Author: "Schnur, Rhonda E." - Searchworks@Jio Institute Digital Library Search Results

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284 results on '"Schnur, Rhonda E."'

1. Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

Author: Dang, An N, Chang, Irene J, Jiang, Xutian, Wolfe, Lynne A, Ng, Bobby G, Lam, Christina, Schnur, Rhonda E, Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D, Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y, Wolfenson, Zoe, Perreault, John, Ory, Daniel S, Freeze, Hudson H, Merritt, J Lawrence, and Porter, Forbes D
Subjects: Biochemistry and Cell Biology, Biological Sciences, Clinical Research, Pediatric, Digestive Diseases, Liver Disease, Infant, Child, Humans, Oxysterols, Congenital Disorders of Glycosylation, Niemann-Pick Disease, Type C, Glycosylation, Bile Acids and Salts, Hydrolases, Vacuolar Proton-Translocating ATPases, ATP6AP1, bile acids, congenital disorders of glycosylation, Niemann-pick type C, N-palmitoyl-O-phosphocholineserine, oxysterols, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences
Abstract: Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multisystemic manifestations. Plasma bile acid and N-palmitoyl-O-phosphocholineserine (PPCS) are screening biomarkers with proposed improved sensitivity and specificity for NPC. We report an infant with ATP6AP1-CDG who presented with cholestatic liver failure and elevated plasma oxysterols and bile acid, mimicking NPC clinically and biochemically. On further investigation, PPCS, but not the bile acid derivative N-(3β,5α,6β-trihydroxy-cholan-24-oyl) glycine (TCG), were elevated in plasma samples from individuals with ATP6AP1-, ALG1-, ALG8-, and PMM2-CDG. These findings highlight the importance of keeping CDG within the diagnostic differential when evaluating children with early onset severe liver disease and elevated bile acid or PPCS to prevent delayed diagnosis and treatment.
Published: 2023

2. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

Author: Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier, Corbett, Mark A., Gecz, Jozef, Nicolet, Charles M., Farnham, Peggy J., Kim, Cheol-Hee, and Shinawi, Marwan
Published: 2024
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3. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

Author: Maroofian, Reza, Zamani, Mina, Kaiyrzhanov, Rauan, Liebmann, Lutz, Karimiani, Ehsan Ghayoor, Vona, Barbara, Huebner, Antje K., Calame, Daniel G., Misra, Vinod K., Sadeghian, Saeid, Azizimalamiri, Reza, Mohammadi, Mohammad Hasan, Zeighami, Jawaher, Heydaran, Sogand, Toosi, Mehran Beiraghi, Akhondian, Javad, Babaei, Meisam, Hashemi, Narges, Schnur, Rhonda E., Suri, Mohnish, Setzke, Jonas, Wagner, Matias, Brunet, Theresa, Grochowski, Christopher M., Emrick, Lisa, Chung, Wendy K., Hellmich, Ute A., Schmidts, Miriam, Lupski, James R., Galehdari, Hamid, Severino, Mariasavina, Houlden, Henry, and Hübner, Christian A.
Published: 2024
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4. De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

Author: Ahmad, Natalie, Fazeli, Walid, Schließke, Sophia, Lesca, Gaetan, Gokce-Samar, Zeynep, Mekbib, Kedous Y., Jin, Sheng Chih, Burton, Jennifer, Hoganson, George, Petersen, Andrea, Gracie, Sara, Granger, Leslie, Bartels, Enrika, Oppermann, Henry, Kundishora, Adam, Till, Marianne, Milleret-Pignot, Clara, Dangerfield, Shane, Viskochil, David, Anderson, Katherine J., Palculict, Timothy Blake, Schnur, Rhonda E., Wentzensen, Ingrid M., Tiller, George E., Kahle, Kristopher T., Kunz, Wolfram S., Burkart, Sebastian, Simons, Matias, Sticht, Heinrich, Abou Jamra, Rami, and Neuser, Sonja
Published: 2023
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5. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Author: Ng, Bobby G, Eklund, Erik A, Shiryaev, Sergey A, Dong, Yin Y, Abbott, Mary‐Alice, Asteggiano, Carla, Bamshad, Michael J, Barr, Eileen, Bernstein, Jonathan A, Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K, Ciliberto, Michael A, Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D, Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S, Hoganson, George E, Houck, Kimberly M, Kohler, Jennefer N, Morava, Eva, Larson, Austin A, Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi JL, Miller, Rebecca, Monaghan, Kristin G, Nickerson, Deborah A, Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A, Scheffer, Ingrid E, Schenone, Andrea Beatriz, Schnur, Rhonda E, Si, Yue, Rowe, Leah J, Russi, Alvaro H Serrano, Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Villanueva, María Mercedes, Wang, Raymond Y, Webster, Richard I, Wilson, Dorcas, Zalan, Alice, Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases, Wolfe, Lynne A, Rosenfeld, Jill A, Rhodes, Lindsay, and Freeze, Hudson H
Subjects: Pediatric, Brain Disorders, Neurosciences, Neurodegenerative, Epilepsy, Biomarkers, Child, Preschool, Congenital Disorders of Glycosylation, Diet, Ketogenic, Female, Glycosylation, Humans, Infant, Male, Mutation, N-Acetylglucosaminyltransferases, Spasms, Infantile, Transferrin, congenital disorders of glycosylation, epilepsy, N-linked glycosylation, whole exome sequencing, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity
Abstract: Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants in ALG13 underlie a form of early infantile epileptic encephalopathy known as EIEE36, but given its essential role in glycosylation, it is also considered a congenital disorder of glycosylation (CDG), ALG13-CDG. Twenty-four previously reported ALG13-CDG cases had de novo variants, but surprisingly, unlike most forms of CDG, ALG13-CDG did not show the anticipated glycosylation defects, typically detected by altered transferrin glycosylation. Structural homology modeling of two recurrent de novo variants, p.A81T and p.N107S, suggests both are likely to impact the function of ALG13. Using a corresponding ALG13-deficient yeast strain, we show that expressing yeast ALG13 with either of the highly conserved hotspot variants rescues the observed growth defect, but not its glycosylation abnormality. We present molecular and clinical data on 29 previously unreported individuals with de novo variants in ALG13. This more than doubles the number of known cases. A key finding is that a vast majority of the individuals presents with West syndrome, a feature shared with other CDG types. Among these, the initial epileptic spasms best responded to adrenocorticotropic hormone or prednisolone, while clobazam and felbamate showed promise for continued epilepsy treatment. A ketogenic diet seems to play an important role in the treatment of these individuals.
Published: 2020

6. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Author: Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, and Depienne, Christel
Subjects: Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Mutation, Missense, Neurodevelopmental Disorders, Pedigree, Phenotype, SOXD Transcription Factors, Young Adult, autism, developmental delay, intellectual disability, epilepsy, missense variants, Deciphering Developmental DisorderStudy, missense variants., Clinical Sciences, Genetics & Heredity
Abstract: PurposeLamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.MethodsClinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various types ofSOX5 alterations. Functional consequences of selected substitutions were investigated.ResultsMicrodeletions and truncating variants occurred throughout SOX5. In contrast, most missense variants clustered in the pivotal SOX-specific high-mobility-group domain. The latter variants prevented SOX5 from binding DNA and promoting transactivation in vitro, whereas missense variants located outside the high-mobility-group domain did not. Clinical manifestations and severity varied among patients. No clear genotype-phenotype correlations were found, except that missense variants outside the high-mobility-group domain were generally better tolerated.ConclusionsThis study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features.
Published: 2020

7. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (vol 142, pg 2617, 2019)

Author: Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, De Crescenzo, Angelo Harlan, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Buttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christele, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quelin, Chloe, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan KC, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martinez-Cerdeno, Veronica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, and Jamra, Rami
Subjects: Neurology & Neurosurgery, Medical and Health Sciences, Psychology and Cognitive Sciences
Published: 2019

8. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

Author: Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, De Crescenzo, Angelo Harlan, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Büttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christèle, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quélin, Chloé, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan KC, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martínez-Cerdeño, Verónica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, and Jamra, Rami
Subjects: Biomedical and Clinical Sciences, Health Sciences, Psychology, Stem Cell Research, Neurosciences, Mental Health, Biotechnology, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Clinical Research, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Neurological, Mental health, Adaptor Proteins, Signal Transducing, Adolescent, Animals, Autophagy-Related Proteins, Brain, Child, Child, Preschool, Female, Genetic Variation, Humans, Male, Mice, Mice, Transgenic, Neurodevelopmental Disorders, Organ Size, Protein Structure, Secondary, WDFY3, brain size, neurodevelopmental delay, intellectual disability, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences
Abstract: The underpinnings of mild to moderate neurodevelopmental delay remain elusive, often leading to late diagnosis and interventions. Here, we present data on exome and genome sequencing as well as array analysis of 13 individuals that point to pathogenic, heterozygous, mostly de novo variants in WDFY3 (significant de novo enrichment P = 0.003) as a monogenic cause of mild and non-specific neurodevelopmental delay. Nine variants were protein-truncating and four missense. Overlapping symptoms included neurodevelopmental delay, intellectual disability, macrocephaly, and psychiatric disorders (autism spectrum disorders/attention deficit hyperactivity disorder). One proband presented with an opposing phenotype of microcephaly and the only missense-variant located in the PH-domain of WDFY3. Findings of this case are supported by previously published data, demonstrating that pathogenic PH-domain variants can lead to microcephaly via canonical Wnt-pathway upregulation. In a separate study, we reported that the autophagy scaffolding protein WDFY3 is required for cerebral cortical size regulation in mice, by controlling proper division of neural progenitors. Here, we show that proliferating cortical neural progenitors of human embryonic brains highly express WDFY3, further supporting a role for this molecule in the regulation of prenatal neurogenesis. We present data on Wnt-pathway dysregulation in Wdfy3-haploinsufficient mice, which display macrocephaly and deficits in motor coordination and associative learning, recapitulating the human phenotype. Consequently, we propose that in humans WDFY3 loss-of-function variants lead to macrocephaly via downregulation of the Wnt pathway. In summary, we present WDFY3 as a novel gene linked to mild to moderate neurodevelopmental delay and intellectual disability and conclude that variants putatively causing haploinsufficiency lead to macrocephaly, while an opposing pathomechanism due to variants in the PH-domain of WDFY3 leads to microcephaly.
Published: 2019

9. New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2.

Author: Schnur, Rhonda E., Dvořáček, Lukáš, Kalsner, Louisa, Shapiro, Faye L., Grebeňová, Dana, Yanni, Diana, Wasserman, Barry N., Agrawal, Pankaj, Parker, Margaret, Yu, Timothy, Douglas, Jessica, Young, Vanessa, D'Gama, Alissa, Hills, Sonia, Wojcik, Monika, Brownstein, Catherine, Genetti, Casie, Schmith‐Abe, Klaus, Dyer, Lisa M., and Antonarakis, Stylianos E.
Subjects: *RETROLENTAL fibroplasia, *MISSENSE mutation, *PROTEIN kinases, *RETINAL detachment, *SYMPTOMS, *CELL adhesion
Abstract: The p21‐activated kinase (PAK) family of proteins regulates various processes requiring dynamic cytoskeleton organization such as cell adhesion, migration, proliferation, and apoptosis. Among the six members of the protein family, PAK2 is specifically involved in apoptosis, angiogenesis, or the development of endothelial cells. We report a novel de novo heterozygous missense PAK2 variant, p.(Thr406Met), found in a newborn with clinical manifestations of Knobloch syndrome. In vitro experiments indicated that this and another reported variant, p.(Asp425Asn), result in substantially impaired protein kinase activity. Similar findings were described previously for the PAK2 p.(Glu435Lys) variant found in two siblings with proposed Knobloch syndrome type 2 (KNO2). These new variants support the association of PAK2 kinase deficiency with a second, autosomal dominant form of Knobloch syndrome: KNO2. [ABSTRACT FROM AUTHOR]
Published: 2024
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10. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Author: Calame, Daniel G., Bakhtiari, Somayeh, Logan, Rachel, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Fatih, Jawid M., Hunter, Jill V., Herman, Isabella, Pehlivan, Davut, Jhangiani, Shalini N., Person, Richard, Schnur, Rhonda E., Jin, Sheng Chih, Bilguvar, Kaya, Posey, Jennifer E., Koh, Sookyong, Firouzabadi, Saghar G., Alehabib, Elham, Tafakhori, Abbas, Esmkhani, Sahra, Gibbs, Richard A., Noureldeen, Mahmoud M., Zaki, Maha S., Marafi, Dana, Darvish, Hossein, Kruer, Michael C., and Lupski, James R.
Published: 2021
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11. UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

Author: Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A., Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., and Hufnagel, Robert B.
Published: 2021
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12. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Author: Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., and Reutter, Heiko
Published: 2021
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13. Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

Author: Bai, Renkui, Cui, Hong, Devaney, Joseph M., Allis, Katrina M., Balog, Amanda M., Liu, Xinyue, Schnur, Rhonda E., Shapiro, Faye L., Brautbar, Ariel, Estrada-Veras, Juvianee I., Hochstetler, Laurel, McConkie-Rosell, Allyn, McDonald, Marie T., Solomon, Benjamin D., Hofherr, Sean, Richard, Gabriele, and Suchy, Sharon F.
Published: 2021
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14. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Author: Zarate, Yuri A., Uehara, Tomoko, Abe, Kota, Oginuma, Masayuki, Harako, Sora, Ishitani, Shizuka, Lehesjoki, Anna-Elina, Bierhals, Tatjana, Kloth, Katja, Ehmke, Nadja, Horn, Denise, Holtgrewe, Manuel, Anderson, Katherine, Viskochil, David, Edgar-Zarate, Courtney L., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Morrow, Michelle M., Sanchez-Valle, Amarilis, Pappas, John, Rabin, Rachel, Muona, Mikko, Anttonen, Anna-Kaisa, Platzer, Konrad, Luppe, Johannes, Gburek-Augustat, Janina, Kaname, Tadashi, Okamoto, Nobuhiko, Mizuno, Seiji, Kaido, Yusaku, Ohkuma, Yoshiaki, Hirose, Yutaka, Ishitani, Tohru, and Kosaki, Kenjiro
Published: 2021
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15. Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders

Author: Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, Legros, Christian, Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, and Legros, Christian
Abstract: Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy. To date, HCN2 variants have only been associated with mild epilepsy and recently, one monoallelic missense variant has been linked to developmental and epileptic encephalopathy. Here, we expand the phenotypic spectrum of HCN2- related disorders by describing twenty-one additional individuals from fifteen unrelated families carrying HCN2 variants. Seventeen individuals had developmental delay/intellectual disability (DD/ID), two had borderline DD/ID, and one had borderline DD. Ten individuals had epilepsy with DD/ID, with median age of onset of 10 months, and one had epilepsy with normal development. Molecular diagnosis identified thirteen different pathogenic HCN2 variants, including eleven missense variants affecting highly conserved amino acids, one frameshift variant, and one in-frame deletion. Seven variants were monoallelic of which five occurred de novo, one was not maternally inherited, one was inherited from a father with mild learning disabilities, and one was of unknown inheritance. The remaining six variants were biallelic, with four homozygous and two compound heterozygous variants. Functional studies using two-electrode voltage-clamp recordings in Xenopus laevis oocytes were performed on three monoallelic variants, p.(Arg324His), p.(Ala363Val), and p.(Met374Leu), and three biallelic variants, p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp). The p.(Arg324His) variant induced a strong increase of HCN2 conductance, while p.(Ala363Val) and p.(Met374Leu) displayed dominant negative effects, leading to a partial loss of HCN2 channel function. By confocal imaging, we found that the p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp) pathogenic variants impaired membrane trafficking, resulting in a complete loss of HCN2 elicited
Published: 2024

16. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Author: Muir, Alison M., Gardner, Jennifer F., van Jaarsveld, Richard H., de Lange, Iris M., van der Smagt, Jasper J., Wilson, Golder N., Dubbs, Holly, Goldberg, Ethan M., Zitano, Lia, Bupp, Caleb, Martinez, Jose, Srour, Myriam, Accogli, Andrea, Alhakeem, Afnan, Meltzer, Meira, Gropman, Andrea, Brewer, Carole, Caswell, Richard C., Montgomery, Tara, McKenna, Caoimhe, McKee, Shane, Powell, Corinna, Vasudevan, Pradeep C., Brady, Angela F., Joss, Shelagh, Tysoe, Carolyn, Noh, Grace, Tarnopolsky, Mark, Brady, Lauren, Zafar, Muhammad, Schrier Vergano, Samantha A., Murray, Brianna, Sawyer, Lindsey, Hainline, Bryan E., Sapp, Katherine, DeMarzo, Danielle, Huismann, Darcy J., Wentzensen, Ingrid M., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rhodes, Lindsay, Dobyns, William B., Lecoquierre, Francois, Goldenberg, Alice, Polster, Tilman, Axer-Schaefer, Susanne, Platzer, Konrad, Klöckner, Chiara, Hoffman, Trevor L., MacArthur, Daniel G., O’Leary, Melanie C., VanNoy, Grace E., England, Eleina, Varghese, Vinod C., and Mefford, Heather C.
Published: 2021
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17. Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

Author: Snijders Blok, Lot, Vino, Arianna, den Hoed, Joery, Underhill, Hunter R., Monteil, Danielle, Li, Hong, Reynoso Santos, Francis Jeshira, Chung, Wendy K., Amaral, Michelle D., Schnur, Rhonda E., Santiago-Sim, Teresa, Si, Yue, Brunner, Han G., Kleefstra, Tjitske, and Fisher, Simon E.
Published: 2021
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18. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

Author: Ha, Thoa, primary, Morgan, Angela, additional, Bartos, Meghan N., additional, Beatty, Katelyn, additional, Cogné, Benjamin, additional, Braun, Dominique, additional, Gerber, Céline B., additional, Gaspar, Harald, additional, Kopps, Anna M., additional, Rieubland, Claudine, additional, Hurst, Anna C. E., additional, Amor, David J., additional, Nizon, Mathilde, additional, Pasquier, Laurent, additional, Pfundt, Rolph, additional, Reis, André, additional, Siu, Victoria Mok, additional, Tessarech, Marine, additional, Thompson, Michelle L., additional, Vincent, Marie, additional, de Vries, Bert B. A., additional, Walsh, Matthew B., additional, Wechsler, Stephanie Burns, additional, Zweier, Christiane, additional, Schnur, Rhonda E., additional, Guillen Sacoto, Maria J., additional, Margot, Henri, additional, Masotto, Barbara, additional, Palafoll, Maria Irene Valenzuela, additional, Nawaz, Urwah, additional, Voineagu, Irina, additional, and Slavotinek, Anne, additional
Published: 2024
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19. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Author: Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, and Wagner, Matias
Published: 2021
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20. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Author: Fregeau, Brieana, Kim, Bum Jun, Hernández-García, Andrés, Jordan, Valerie K, Cho, Megan T, Schnur, Rhonda E, Monaghan, Kristin G, Juusola, Jane, Rosenfeld, Jill A, Bhoj, Elizabeth, Zackai, Elaine H, Sacharow, Stephanie, Barañano, Kristin, Bosch, Daniëlle GM, de Vries, Bert BA, Lindstrom, Kristin, Schroeder, Audrey, James, Philip, Kulch, Peggy, Lalani, Seema R, van Haelst, Mieke M, van Gassen, Koen LI, van Binsbergen, Ellen, Barkovich, A James, Scott, Daryl A, and Sherr, Elliott H
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Neurosciences, Brain Disorders, Autism, Pediatric, Mental Health, Intellectual and Developmental Disabilities (IDD), Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Animals, Carrier Proteins, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 1, Developmental Disabilities, Female, Haploinsufficiency, Humans, Infant, Male, Mice, Mutation, Phenotype, Prognosis, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract: Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are associated with developmental delay, intellectual disability, and defects involving the brain, eye, ear, heart, and kidney. Arginine-glutamic acid dipeptide repeats (RERE) is located in the proximal 1p36 critical region. RERE is a widely-expressed nuclear receptor coregulator that positively regulates retinoic acid signaling. Animal models suggest that RERE deficiency might contribute to many of the structural and developmental birth defects and medical problems seen in individuals with 1p36 deletion syndrome, although human evidence supporting this role has been lacking. In this report, we describe ten individuals with intellectual disability, developmental delay, and/or autism spectrum disorder who carry rare and putatively damaging changes in RERE. In all cases in which both parental DNA samples were available, these changes were found to be de novo. Associated features that were recurrently seen in these individuals included hypotonia, seizures, behavioral problems, structural CNS anomalies, ophthalmologic anomalies, congenital heart defects, and genitourinary abnormalities. The spectrum of defects documented in these individuals is similar to that of a cohort of 31 individuals with isolated 1p36 deletions that include RERE and are recapitulated in RERE-deficient zebrafish and mice. Taken together, our findings suggest that mutations in RERE cause a genetic syndrome and that haploinsufficiency of RERE might be sufficient to cause many of the phenotypes associated with proximal 1p36 deletions.
Published: 2016

21. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

Author: Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffaul, Isabelle, Schnur, Rhonda E., Breen, Catherine, Oegema, Renske, Weiss, Marjan M.M., Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A., Boon, Elles M.J., Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T., Scarano, Maria, Schaefer, G. Bradley, Brooks, Susan S., Hughes, Susan Starling, van Gassen, K.L.I., van Hagen, Johanna M., Pandita, Tej K., Agrawal, Pankaj B., Campeau, Philippe M., and Yang, Xiang- Jiao
Subjects: Thermo Fisher Scientific Inc., Brain, Epigenetic inheritance, Lysine, Apoptosis, Scientific equipment industry, Acylation, Disabilities, Autism, Seizures (Medicine), Epilepsy, Diseases, Health care industry
Abstract: Epigenetic integrity is critical for many eukaryotic cellular processes. An important question is how different epigenetic regulators control development and influence disease. Lysine acetyltransferase 8 (KAT8) is critical for acetylation of histone H4 at lysine 16 (H4K16), an evolutionarily conserved epigenetic mark. It is unclear what roles KAT8 plays in cerebral development and human disease. Here, we report that cerebrum-specific knockout mice displayed cerebral hypoplasia in the neocortex and hippocampus, along with improper neural stem and progenitor cell (NSPC) development. Mutant cerebrocortical neuroepithelia exhibited faulty proliferation, aberrant neurogenesis, massive apoptosis, and scant H4K16 propionylation. Mutant NSPCs formed poor neurospheres, and pharmacological KAT8 inhibition abolished neurosphere formation. Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. The variants altered chromobarrel and catalytic domains of KAT8, thereby impairing nucleosomal H4K16 acetylation. Valproate was effective for treating epilepsy in at least 2 of the individuals. This study uncovers a critical role of KAT8 in cerebral and NSPC development, identifies 9 individuals with KAT8 variants, and links deficient H4K16 acylation directly to intellectual disability, epilepsy, and other developmental anomalies., Introduction Hundreds of epigenetic regulators have been identified and characterized, but much less is known about their pathophysiological roles. Lysine acetyltransferases (KATs) form a prominent group of chromatin regulators, catalyze [...]
Published: 2020
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22. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Author: Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N., Clark, Karl J., Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B., Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E., Millan, Francisca, Si, Yue, Mall, Volker, Winkelmann, Juliane, Gavrilova, Ralitza H., Klee, Eric W., Engleman, Kendra, Safina, Nicole P., Slaugh, Rachel, Bryant, Emily M., Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N., Schaefer, G. Bradley, Towner, Shelley, Brilstra, Eva H., and Koeleman, Bobby P. C.
Published: 2020
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23. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Author: Besnard, Thomas, Sloboda, Natacha, Goldenberg, Alice, Küry, Sébastien, Cogné, Benjamin, Breheret, Flora, Trochu, Eva, Conrad, Solène, Vincent, Marie, Deb, Wallid, Balguerie, Xavier, Barbarot, Sébastien, Baujat, Geneviève, Ben-Omran, Tawfeg, Bursztejn, Anne-Claire, Carmignac, Virginie, Datta, Alexandre N., Delignières, Aline, Faivre, Laurence, Gardie, Betty, Guéant, Jean-Louis, Kuentz, Paul, Lenglet, Marion, Nassogne, Marie-Cécile, Ramaekers, Vincent, Schnur, Rhonda E., Si, Yue, Torti, Erin, Thevenon, Julien, Vabres, Pierre, Van Maldergem, Lionel, Wand, Dorothea, Wiedemann, Arnaud, Cariou, Bertrand, Redon, Richard, Lamazière, Antonin, Bézieau, Stéphane, Feillet, Francois, and Isidor, Bertrand
Published: 2019
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24. Variants in DOCK3 cause developmental delay and hypotonia

Author: Wiltrout, Kimberly, Ferrer, Alejandro, van de Laar, Ingrid, Namekata, Kazuhiko, Harada, Takayuki, Klee, Eric W., Zimmerman, Michael T., Cousin, Margot A., Kempainen, Jennifer L., Babovic-Vuksanovic, Dusica, van Slegtenhorst, Marjon A., Aarts-Tesselaar, Coranne D., Schnur, Rhonda E., Andrews, Marisa, and Shinawi, Marwan
Published: 2019
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25. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Author: Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E. L. M., and de Vries, Bert B. A.
Published: 2019
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26. Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

Author: Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Care 4 Rare Canada Consortium, Schneidman-Duhovny, Dina, Innes, A. Micheil, Mancini, Grazia M. S., and Slavotinek, Anne M.
Published: 2019
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27. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Author: Sheppard, Sarah E., primary, Bryant, Laura, additional, Wickramasekara, Rochelle N., additional, Vaccaro, Courtney, additional, Robertson, Brynn, additional, Hallgren, Jodi, additional, Hulen, Jason, additional, Watson, Cynthia J., additional, Faundes, Victor, additional, Duffourd, Yannis, additional, Lee, Pearl, additional, Simon, M. Celeste, additional, de la Cruz, Xavier, additional, Padilla, Natália, additional, Flores-Mendez, Marco, additional, Akizu, Naiara, additional, Smiler, Jacqueline, additional, Pellegrino Da Silva, Renata, additional, Li, Dong, additional, March, Michael, additional, Diaz-Rosado, Abdias, additional, Peixoto de Barcelos, Isabella, additional, Choa, Zhao Xiang, additional, Lim, Chin Yan, additional, Dubourg, Christèle, additional, Journel, Hubert, additional, Demurger, Florence, additional, Mulhern, Maureen, additional, Akman, Cigdem, additional, Lippa, Natalie, additional, Andrews, Marisa, additional, Baldridge, Dustin, additional, Constantino, John, additional, van Haeringen, Arie, additional, Snoeck-Streef, Irina, additional, Chow, Penny, additional, Hing, Anne, additional, Graham, John M., additional, Au, Margaret, additional, Faivre, Laurence, additional, Shen, Wei, additional, Mao, Rong, additional, Palumbos, Janice, additional, Viskochil, David, additional, Gahl, William, additional, Tifft, Cynthia, additional, Macnamara, Ellen, additional, Hauser, Natalie, additional, Miller, Rebecca, additional, Maffeo, Jessica, additional, Afenjar, Alexandra, additional, Doummar, Diane, additional, Keren, Boris, additional, Arn, Pamela, additional, Macklin-Mantia, Sarah, additional, Meerschaut, Ilse, additional, Callewaert, Bert, additional, Reis, André, additional, Zweier, Christiane, additional, Brewer, Carole, additional, Saggar, Anand, additional, Smeland, Marie F., additional, Kumar, Ajith, additional, Elmslie, Frances, additional, Deshpande, Charu, additional, Nizon, Mathilde, additional, Cogne, Benjamin, additional, van Ierland, Yvette, additional, Wilke, Martina, additional, van Slegtenhorst, Marjon, additional, Koudijs, Suzanne, additional, Chen, Jin Yun, additional, Dredge, David, additional, Pier, Danielle, additional, Wortmann, Saskia, additional, Kamsteeg, Erik-Jan, additional, Koch, Johannes, additional, Haynes, Devon, additional, Pollack, Lynda, additional, Titheradge, Hannah, additional, Ranguin, Kara, additional, Denommé-Pichon, Anne-Sophie, additional, Weber, Sacha, additional, Pérez de la Fuente, Rubén, additional, Sánchez del Pozo, Jaime, additional, Lezana Rosales, Jose Miguel, additional, Joset, Pascal, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Mei, Davide, additional, Mari, Francesco, additional, Guerrini, Renzo, additional, Lespinasse, James, additional, Tran Mau-Them, Frédéric, additional, Philippe, Christophe, additional, Dauriat, Benjamin, additional, Raymond, Laure, additional, Moutton, Sébastien, additional, Cueto-González, Anna M., additional, Tan, Tiong Yang, additional, Mignot, Cyril, additional, Grotto, Sarah, additional, Renaldo, Florence, additional, Drivas, Theodore G., additional, Hennessy, Laura, additional, Raper, Anna, additional, Parenti, Ilaria, additional, Kaiser, Frank J., additional, Kuechler, Alma, additional, Busk, Øyvind L., additional, Islam, Lily, additional, Siedlik, Jacob A., additional, Henderson, Lindsay B., additional, Juusola, Jane, additional, Person, Richard, additional, Schnur, Rhonda E., additional, Vitobello, Antonio, additional, Banka, Siddharth, additional, Bhoj, Elizabeth J., additional, and Stessman, Holly A. F., additional
Published: 2023
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28. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Author: Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A.F., Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., and Stessman, Holly A.F.
Abstract: Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5Brelated neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.
Published: 2023

29. Neurofibromatosis, type 1

Author: Ghazi, Elizabeth, primary and Schnur, Rhonda E., additional
Published: 2018
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30. Fabry disease

Author: Ganesh, Jaya, primary, Schnur, Rhonda E., additional, and Child, Fiona, additional
Published: 2018
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31. List of Contributors

Author: Abdullah, Anthony, primary, Abrouk, Michael, additional, Ahad, Tashmeeta, additional, Ahmed, Imtiaz, additional, Al Hammadi, Anwar, additional, Allen, Caroline, additional, Almohssen, Amer Ali, additional, Alwan, Wisam, additional, Ameen, Mahreen, additional, Amini, Sadegh, additional, Anderson, Bryan E., additional, Anhalt, Grant J., additional, Baker, Donald J., additional, Bala, Harini Rajgopal, additional, Baltz, Julia, additional, Banach, David, additional, Banfield, Cedric C., additional, Baran, Robert, additional, Bardhan, Ajoy, additional, Barkham, Melissa C., additional, Bello, Ysabel M., additional, Benton, Emma, additional, Bergfeld, Wilma F., additional, Berkowitz, Eric, additional, Berman, Brian, additional, Bernhard, Jeffrey D., additional, Bernstein, Daniel, additional, Berth-Jones, John, additional, Bhate, Chinmoy, additional, Bhatia, Bhavnit K., additional, Blume, Jonathan E., additional, Bordet, Nevianna, additional, Borysiewicz, Catherine, additional, Brauner, Gary J., additional, Brodell, Robert T., additional, Brown, Marc D., additional, Burd, Robert M., additional, Burdick, Anne E., additional, Butala, Niraj, additional, Callen, Jeffrey P., additional, Camacho, Ivan D., additional, Camasmie, Helena, additional, Caplivski, Daniel, additional, Cappell, Mitchell S., additional, Casey, Genevieve A., additional, Chan, Lawrence S., additional, Chan, Loi-Yuen, additional, Chen, Jennifer K., additional, Chen, Chen “Mary”, additional, Chiang, Nicole Yi Zhen, additional, Chiaravalloti, Anthony J., additional, Child, Fiona J., additional, Chu, Anthony C., additional, Clayton, Timothy H., additional, Cohen, Steven R., additional, Cooper, Elizabeth A., additional, Cooper, Susan M., additional, Collier, Nick, additional, Correnti, Christina M., additional, Coulson, Ian H., additional, Council, M. Laurin, additional, Cowper, Shawn E., additional, Craven, Nicholas M., additional, Creamer, Daniel, additional, Cruz, Ponciano D., additional, Cusack, Carrie Ann R., additional, Daunton, Adam, additional, Davis, Mark D.P., additional, Dawe, Robert S., additional, D’Cruz, David P., additional, de Berker, David, additional, DeHoratius, Danielle M., additional, Deng, Min, additional, Desai, Seemal R., additional, Devlin, Georgina, additional, DiGiovanna, John J., additional, Doctoroff, Alexander, additional, Dodiuk-Gad, Roni P., additional, Eichenfield, Dawn Z., additional, Eichenfield, Lawrence F., additional, Eisen, Drore, additional, Eke, Ure, additional, Elston, Dirk M., additional, Emanuel, Patrick O.M., additional, Enos, Clinton W., additional, Ensanyat, Shaheen H., additional, Falabella, Anna F., additional, Farberg, Aaron S., additional, Feigenbaum, Lawrence S., additional, Fernandez, Kristen Heins, additional, Fett, Nicole, additional, Finlay, Andrew Y., additional, Firoz, Bahar F., additional, Firoz, Elnaz F., additional, Fitzpatrick, James E., additional, Flischel, Amy E., additional, Foley, Kelly A., additional, Freedman, Derek, additional, Fremlin, Georgina A., additional, Fried, Richard, additional, Friedlander, Philip, additional, Friedman, Adam, additional, Forrestel, Amy K., additional, Fuchs, Brian S., additional, Gach, Joanna E., additional, Galan, Anjela, additional, Ganesh, Jaya, additional, Garg, Amit, additional, Geller, Lauren, additional, Gelmetti, Carlo M., additional, Ghazi, Elizabeth, additional, Ghunawat, Sneha, additional, Goldberg, Leonard H., additional, Goodfield, Mark J.D., additional, Gordon, Marsha L., additional, Gowda, Asha, additional, Grabell, Daniel A., additional, Grant, Matthew, additional, Grattan, Clive E.H., additional, Greaves, Malcolm W., additional, Green, Justin J., additional, Griffiths, Christopher E.M., additional, Gropper, Charles A., additional, Grossberg, Anna L., additional, Gupta, Aditya K., additional, Hadi, Ali S., additional, Hadi, Suhail M., additional, Hagans, Iris A., additional, Hairston, Bethany R., additional, Halpern, Analisa Vincent, additional, Halverstam, Caroline, additional, Harper, Natasha, additional, Harries, Matthew J., additional, Harris, John, additional, Harrison, Shannon, additional, Hatch, Michael M., additional, Heagerty, Adrian H.M., additional, Hebert, Adelaide A., additional, Helms, Stephen E., additional, Hexsel, Camile L., additional, Hexsel, Doris M., additional, Heymann, Warren R., additional, Higgins, Elisabeth M., additional, Higgins, Claire L., additional, High, Whitney A., additional, Hönigsmann, Herbert, additional, Horenstein, Marcelo G., additional, Hruza, George J., additional, Hui, Andrea, additional, Huo, Ran, additional, Ibbotson, Sally H., additional, Ibrahim, Sherrif F., additional, Ilchyshyn, Andrew, additional, Ismail, Dina, additional, Jablonska, Stefania, additional, Jacobe, Heidi T., additional, James, William D., additional, Javed, Aysha, additional, Jemec, Gregor B.E., additional, Johnston, Graham A., additional, Jones, Stephen K., additional, Junkins-Hopkins, Jacqueline M., additional, Kaffenberger, Jessica, additional, Kane, Kelly R., additional, Kanelleas, Antonios, additional, Karadağ, Ayşe Serap, additional, Karas, Laura, additional, Katugampola, Ruwani P., additional, Katz, Bruce E., additional, Kellen, Roselyn, additional, Khan, Murtaza, additional, Khorasani, Hooman, additional, Kim, Ellen J., additional, Kim, Hee J., additional, Kirby, Brian, additional, Kirby, Joslyn S., additional, Klein, Rachel S., additional, Kleydman, Kate, additional, Koch, Dimitra, additional, Kohorst, John J., additional, Koo, John Y.M., additional, Kopp, Sandra A., additional, Korman, Neil J., additional, Kovarik, Carrie, additional, Kraemer, Kenneth H., additional, Krafchik, Bernice R., additional, Krishnamurthy, Karthik, additional, Kvernebo, Knut, additional, Lam, Charlene, additional, Lambert, Peter C., additional, Langtry, James A.A., additional, Larian, Amir A., additional, Larocca, Cecilia A., additional, Lawlor, E. Frances, additional, Lawrence, Clifford M., additional, Lebwohl, Mark G., additional, Lebwohl, Oscar, additional, Lehman, Julia S., additional, Leslie, Tabi A., additional, Lessin, Stuart R., additional, Levitt, Jacob O., additional, Lewis, Fiona M., additional, Liaqat, Maryam, additional, Liu, Kristina J., additional, Loosemore, Michael P., additional, Luger, Thomas A., additional, Lupi, Omar, additional, Lushniak, Boris D., additional, Lyon, Calum C., additional, Maderal, Andrea D., additional, Mahmoud, Bassel H., additional, Majewski, Slawomir, additional, Mallett, Richard B., additional, Manders, Steven M., additional, Mann, Ranon, additional, Mansouri, Yasaman, additional, Margolis, David J., additional, Markowitz, Orit, additional, Marsland, Alexander, additional, Martin-Clavijo, Agustin, additional, Martinez, Daniela, additional, Matiz, Catalina, additional, Maurer, Marcus, additional, McKerrow, Kevin, additional, Meah, Nekma, additional, Micali, Giuseppe, additional, Micheletti, Robert G., additional, Millard, Leslie G., additional, Miller, James E., additional, Wong Millsop, Jillian W., additional, Mimouni, Daniel, additional, Mirowski, Ginat W., additional, Mirza, Sultan A., additional, Molin, Sonja, additional, Morales-Burgos, Adisbeth, additional, Morison, Warwick L., additional, Mørk, Cato, additional, Morton, Colin A., additional, Motley, Richard J., additional, Mowbray, Megan, additional, Muldoon, Eavan G., additional, Muncaster, Anna E., additional, Murakawa, George J., additional, Murase, Jenny E., additional, Murdoch, Michele E., additional, Nabatian, Adam S., additional, Nakamura, Mio, additional, Nalluri, Rajani, additional, Nawas, Zeena Y., additional, Needham, Glen R., additional, Newell, Glenn C., additional, Newton-Bishop, Julia, additional, Nguyen, Adam V., additional, Nixon, Rosemary L., additional, O’Brien, Jack C., additional, Ogden, Stephanie, additional, Olbricht, Suzanne M., additional, O’Shea, Sally Jane, additional, Owen, Cindy E., additional, Pan, Michael, additional, Pappas-Taffer, Lisa, additional, Parish, Jennifer L., additional, Parish, Lawrence Charles, additional, Payette, Michael, additional, Peck, Gary L., additional, Pena, Sandra, additional, Peranteau, Jarad, additional, Pereira, Frederick A., additional, Perkins, William, additional, Perlis, Clifford S., additional, Phelps, Robert G., additional, Phillips, Tania J., additional, Poh-Fitzpatrick, Maureen B., additional, Pomeranz, Miriam Keltz, additional, Pop, Samantha R., additional, Porcu, Pierluigi, additional, Powell, James B., additional, Prok, Lori D., additional, Pyle, Tia M., additional, Qazaz, Surod, additional, Rajkomar, Vikram, additional, Rashid, Rabia S., additional, Rashighi, Mehdi, additional, Ratnavel, Ravi, additional, Regula, Christie G., additional, Renzi, Michael, additional, Revuz, Jean, additional, Reynolds, Rachel V., additional, Richard, Elisabeth, additional, Richard, Gabriele, additional, Rigel, Darrell S., additional, Robles, Wanda Sonia, additional, Rogge, Megan, additional, Rook, Alain H., additional, Manning, Jamie R., additional, Rosen, Ted, additional, Rosenbach, Misha, additional, Rosenfeld, David, additional, Rowland Payne, Christopher, additional, Rubin, Adam I., additional, Rubin, Courtney, additional, Rustin, Malcolm H.A., additional, Ruzicka, Thomas, additional, Samimi, Sara, additional, Schachner, Lawrence A., additional, Scheinfeld, Noah, additional, Schlosser, Bethanee J., additional, Schnur, Rhonda E., additional, Schwartz, Robert A., additional, Scorer, Matthew J., additional, Selkin, Bryan A., additional, Seymour, Jamie, additional, Shaver, Christine M., additional, Shea, Christopher R., additional, Shear, Neil H., additional, Shim, Tang Ngee, additional, Shimizu, Hiroshi, additional, Siegel, Julia, additional, Singer, Elisha, additional, Skelsey, Maral Kibarian, additional, Sladden, Chris, additional, Sladden, Michael, additional, Smith, Janellen, additional, Smucker, Joanne E., additional, Somani, Najwa, additional, Sommer, Lacy L., additional, Sommerlad, Mary, additional, Soon, Christine, additional, Sopkovich, Jennifer A., additional, Soter, Nicholas A., additional, Spencer, James M., additional, Staughton, Richard C.D., additional, Sterling, Jane C., additional, Sunderkötter, Cord, additional, Taibjee, Saleem M., additional, Tamura, Deborah, additional, Tan, Eunice, additional, Tang, William Y-M., additional, Taylor, Lynsey, additional, Thiers, Bruce H., additional, Thomas, Lucy J., additional, Thornton, Cody R., additional, Tobin, Anne-Marie, additional, Torgerson, Rochelle R., additional, Tosti, Antonella, additional, Tsatsou, Fragkiski, additional, Tsuji-Abe, Yukiko, additional, Tucker, William F.G., additional, Tyring, Stephen K., additional, Udkoff, Jeremy, additional, Unger, Robin H., additional, Unger, Walter P., additional, Utz, Sarah, additional, Valbuena, Martha C., additional, van de Kerkhof, Peter, additional, Van Voorhees, Abby S., additional, Vangipuram, Ramya, additional, Veitch, David, additional, Venning, Vanessa, additional, Versteeg, Sarah G., additional, Viera, Martha, additional, Vittorio, Carmela C., additional, Vleugels, Ruth Ann, additional, Wali, Gorav N., additional, Wallengren, Joanna, additional, Wan, Joy, additional, Wanat, Karolyn A., additional, Weichert, Gabriele, additional, Weidmann, Anja K., additional, Weinberg, Jeffrey M., additional, Werth, Victoria P., additional, White, Lucile E., additional, Wiener, Adam H., additional, Wilkin, Jonathan K., additional, Wilkin, Nathaniel K., additional, Williams, Jason, additional, Wilson, Niall, additional, Wiss, Karen, additional, Witkowski, Joseph A., additional, Wiznia, Lauren E., additional, Wong, Henry K., additional, Wong, Junie Li Chun, additional, Wright, Andrew L., additional, Wriston, Cooper C., additional, Wu, Benedict C., additional, Wulkan, Adam, additional, Zaenglein, Andrea L., additional, Zaki, Irshad, additional, Zeichner, Joshua A., additional, Zhu, Tian Hao, additional, Zone, John J., additional, Zouboulis, Christos C., additional, and Zuberbeir, Torstein, additional
Published: 2018
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32. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author: Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, The DDD study, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., and Campeau, Philippe M.
Published: 2019
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33. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author: Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, The DDD study, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., and Campeau, Philippe M.
Published: 2019
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34. Elevated Oxysterol andN‐ Palmitoyl‐ O ‐PhosphocholineserineLevels in Congenital Disorders of Glycosylation

Author: Dang Do, An N., primary, Chang, Irene J., additional, Jiang, Xutian, additional, Wolfe, Lynne A., additional, Ng, Bobby G., additional, Lam, Christina, additional, Schnur, Rhonda E., additional, Allis, Katrina, additional, Hansikova, Hana, additional, Ondruskova, Nina, additional, O'Connor, Shawn D., additional, Sanchez‐Valle, Amarilis, additional, Vollo, Arve, additional, Wang, Raymond Y., additional, Wolfenson, Zoe, additional, Perreault, John, additional, Ory, Daniel S., additional, Freeze, Hudson H., additional, Merritt, J. Lawrence, additional, and Porter, Forbes D., additional
Published: 2023
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35. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Author: Cali, Elisa, primary, Suri, Mohnish, additional, Scala, Marcello, additional, Ferla, Matteo P., additional, Alavi, Shahryar, additional, Faqeih, Eissa Ali, additional, Bijlsma, Emilia K., additional, Wigby, Kristen M., additional, Baralle, Diana, additional, Mehrjardi, Mohammad Y.V., additional, Schwab, Jennifer, additional, Platzer, Konrad, additional, Steindl, Katharina, additional, Hashem, Mais, additional, Jones, Marilyn, additional, Niyazov, Dmitriy M., additional, Jacober, Jennifer, additional, Littlejohn, Rebecca Okashah, additional, Weis, Denisa, additional, Zadeh, Neda, additional, Rodan, Lance, additional, Goldenberg, Alice, additional, Lecoquierre, François, additional, Dutra-Clarke, Marina, additional, Horvath, Gabriella, additional, Young, Dana, additional, Orenstein, Naama, additional, Bawazeer, Shahad, additional, Vulto-van Silfhout, Anneke T., additional, Herenger, Yvan, additional, Dehghani, Mohammadreza, additional, Seyedhassani, Seyed Mohammad, additional, Bahreini, Amir, additional, Nasab, Mahya E., additional, Ercan-Sencicek, A. Gulhan, additional, Firoozfar, Zahra, additional, Movahedinia, Mojtaba, additional, Efthymiou, Stephanie, additional, Striano, Pasquale, additional, Karimiani, Ehsan Ghayoor, additional, Salpietro, Vincenzo, additional, Taylor, Jenny C., additional, Redman, Melody, additional, Stegmann, Alexander P.A., additional, Laner, Andreas, additional, Abdel-Salam, Ghada, additional, Li, Megan, additional, Bengala, Mario, additional, Müller, Amelie Johanna, additional, Digilio, Maria C., additional, Rauch, Anita, additional, Gunel, Murat, additional, Titheradge, Hannah, additional, Schweitzer, Daniela N., additional, Kraus, Alison, additional, Valenzuela, Irene, additional, McLean, Scott D., additional, Phornphutkul, Chanika, additional, Salih, Mustafa, additional, Begtrup, Amber, additional, Schnur, Rhonda E., additional, Torti, Erin, additional, Haack, Tobias B., additional, Prada, Carlos E., additional, Alkuraya, Fowzan S., additional, Houlden, Henry, additional, and Maroofian, Reza, additional
Published: 2023
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36. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

Author: Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M., Cho, Megan T., Krokosky, Alyson, Turner, Clesson E., Lindstrom, Kristin, Bupp, Caleb P., Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A., Lewis, Andrea M., White, Janson J., Jhangiani, Shalani N., Gulec, Elif Yilmaz, Lalani, Seema R., Lupski, James R., Retterer, Kyle, Schnur, Rhonda E., Wentzensen, Ingrid M., Bale, Sherri, and Chung, Wendy K.
Published: 2016
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37. Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients

Author: Adutwum, Michelle, primary, Hurst, Anna, additional, Mirzaa, Ghayda, additional, Kushner, Jessica D., additional, Rogers, Caleb, additional, Khalek, Nahla, additional, Cristancho, Ana G., additional, Burrill, Natalie, additional, Seifert, Michael E., additional, Scarano, Maria I., additional, Schnur, Rhonda E., additional, and Slavotinek, Anne, additional
Published: 2022
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38. Chromosomes, Genes, and the Thyroid Gland

Author: Halpern, Analisa V., Schnur, Rhonda E., and Heymann, Warren R., editor
Published: 2008
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39. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author: Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, The DDD study, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., and Campeau, Philippe M.
Published: 2018
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40. Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Author: Küry, Sébastien, Ebstein, Frédéric, Mollé, Alice, Besnard, Thomas, Lee, Ming Kang, Vignard, Virginie, Hery, Tiphaine, Nizon, Mathilde, Mancini, Grazia M.S., Giltay, Jacques C., Cogné, Benjamin, McWalter, Kirsty, Deb, Wallid, Mor-Shaked, Hagar, Li, Hong, Schnur, Rhonda E., Wentzensen, Ingrid M., Denommé-Pichon, Anne Sophie, Fourgeux, Cynthia, Verheijen, Frans W., Faurie, Eva, Schot, Rachel, Stevens, Cathy A., Smits, Daphne J., Barr, Eileen, Sheffer, Ruth, Bernstein, Jonathan A., Stimach, Chandler L., Kovitch, Eliana, Shashi, Vandana, Schoch, Kelly, Smith, Whitney, van Jaarsveld, Richard H., Hurst, Anna C.E., Smith, Kirstin, Baugh, Evan H., Bohm, Suzanne G., Vyhnálková, Emílie, Ryba, Lukáš, Delnatte, Capucine, Neira, Juanita, Bonneau, Dominique, Toutain, Annick, Rosenfeld, Jill A., Audebert-Bellanger, Séverine, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Laumonnier, Frédéric, Berger, Seth I., Smith, Ann C.M., Küry, Sébastien, Ebstein, Frédéric, Mollé, Alice, Besnard, Thomas, Lee, Ming Kang, Vignard, Virginie, Hery, Tiphaine, Nizon, Mathilde, Mancini, Grazia M.S., Giltay, Jacques C., Cogné, Benjamin, McWalter, Kirsty, Deb, Wallid, Mor-Shaked, Hagar, Li, Hong, Schnur, Rhonda E., Wentzensen, Ingrid M., Denommé-Pichon, Anne Sophie, Fourgeux, Cynthia, Verheijen, Frans W., Faurie, Eva, Schot, Rachel, Stevens, Cathy A., Smits, Daphne J., Barr, Eileen, Sheffer, Ruth, Bernstein, Jonathan A., Stimach, Chandler L., Kovitch, Eliana, Shashi, Vandana, Schoch, Kelly, Smith, Whitney, van Jaarsveld, Richard H., Hurst, Anna C.E., Smith, Kirstin, Baugh, Evan H., Bohm, Suzanne G., Vyhnálková, Emílie, Ryba, Lukáš, Delnatte, Capucine, Neira, Juanita, Bonneau, Dominique, Toutain, Annick, Rosenfeld, Jill A., Audebert-Bellanger, Séverine, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Laumonnier, Frédéric, Berger, Seth I., and Smith, Ann C.M.
Abstract: Nuclear deubiquitinase BAP1 (BRCA1-associated protein 1) is a core component of multiprotein complexes that promote transcription by reversing the ubiquitination of histone 2A (H2A). BAP1 is a tumor suppressor whose germline loss-of-function variants predispose to cancer. To our knowledge, there are very rare examples of different germline variants in the same gene causing either a neurodevelopmental disorder (NDD) or a tumor predisposition syndrome. Here, we report a series of 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic NDD. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. In T cells isolated from two affected children, H2A deubiquitination was impaired. In matching peripheral blood mononuclear cells, histone H3 K27 acetylation ChIP-seq indicated that these BAP1 variants induced genome-wide chromatin state alterations, with enrichment for regulatory regions surrounding genes of the ubiquitin-proteasome system (UPS). Altogether, these results define a clinical syndrome caused by rare germline missense BAP1 variants that alter chromatin remodeling through abnormal histone ubiquitination and lead to transcriptional dysregulation of developmental genes.
Published: 2022

41. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

Author: O'Grady, Lauren, primary, Schrier Vergano, Samantha A., additional, Hoffman, Trevor L., additional, Sarco, Dean, additional, Cherny, Sara, additional, Bryant, Emily, additional, Schultz‐Rogers, Laura, additional, Chung, Wendy K., additional, Sacharow, Stephanie, additional, Immken, Ladonna L., additional, Holder, Susan, additional, Blackwell, Rebecca R., additional, Buchanan, Catherine, additional, Yusupov, Roman, additional, Lecoquierre, François, additional, Guerrot, Anne‐Marie, additional, Rodan, Lance, additional, de Vries, Bert B. A., additional, Kamsteeg, Erik Jan, additional, Santos Simarro, Fernando, additional, Palomares‐Bralo, Maria, additional, Brown, Natasha, additional, Pais, Lynn, additional, Ferrer, Alejandro, additional, Klee, Eric W., additional, Babovic‐Vuksanovic, Dusica, additional, Rhodes, Lindsay, additional, Person, Richard, additional, Begtrup, Amber, additional, Keller‐Ramey, Jennifer, additional, Santiago‐Sim, Teresa, additional, Schnur, Rhonda E., additional, Sweetser, David A., additional, and Gold, Nina B., additional
Published: 2022
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42. 169 - Neurofibromatosis, type 1

Author: Matthew McLarney, R. and Schnur, Rhonda E.
Published: 2022
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43. Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Author: Küry, Sébastien, primary, Ebstein, Frédéric, additional, Mollé, Alice, additional, Besnard, Thomas, additional, Lee, Ming-Kang, additional, Vignard, Virginie, additional, Hery, Tiphaine, additional, Nizon, Mathilde, additional, Mancini, Grazia M.S., additional, Giltay, Jacques C., additional, Cogné, Benjamin, additional, McWalter, Kirsty, additional, Deb, Wallid, additional, Mor-Shaked, Hagar, additional, Li, Hong, additional, Schnur, Rhonda E., additional, Wentzensen, Ingrid M., additional, Denommé-Pichon, Anne-Sophie, additional, Fourgeux, Cynthia, additional, Verheijen, Frans W., additional, Faurie, Eva, additional, Schot, Rachel, additional, Stevens, Cathy A., additional, Smits, Daphne J., additional, Barr, Eileen, additional, Sheffer, Ruth, additional, Bernstein, Jonathan A., additional, Stimach, Chandler L., additional, Kovitch, Eliana, additional, Shashi, Vandana, additional, Schoch, Kelly, additional, Smith, Whitney, additional, van Jaarsveld, Richard H., additional, Hurst, Anna C.E., additional, Smith, Kirstin, additional, Baugh, Evan H., additional, Bohm, Suzanne G., additional, Vyhnálková, Emílie, additional, Ryba, Lukáš, additional, Delnatte, Capucine, additional, Neira, Juanita, additional, Bonneau, Dominique, additional, Toutain, Annick, additional, Rosenfeld, Jill A., additional, Audebert-Bellanger, Séverine, additional, Gilbert-Dussardier, Brigitte, additional, Odent, Sylvie, additional, Laumonnier, Frédéric, additional, Berger, Seth I., additional, Smith, Ann C.M., additional, Bourdeaut, Franck, additional, Stern, Marc-Henri, additional, Redon, Richard, additional, Krüger, Elke, additional, Margueron, Raphaël, additional, Bézieau, Stéphane, additional, Poschmann, Jeremie, additional, and Isidor, Bertrand, additional
Published: 2022
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44. Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients.

Author: Adutwum, Michelle, Hurst, Anna, Mirzaa, Ghayda, Kushner, Jessica D., Rogers, Caleb, Khalek, Nahla, Cristancho, Ana G., Burrill, Natalie, Seifert, Michael E., Scarano, Maria I., Schnur, Rhonda E., and Slavotinek, Anne
Subjects: NEPHROTIC syndrome, SCIMITAR syndrome, SYNDROMES, CENTRAL nervous system, KIDNEY diseases, AMNIOTIC liquid, AMNIOTIC fluid embolism
Abstract: The Crumbs homolog‐2 (CRB2)‐related syndrome (CRBS‐RS) is a rarely encountered condition initially described as a triad comprising ventriculomegaly, Finnish nephrosis, and elevated alpha‐fetoprotein levels in maternal serum and amniotic fluid. CRB2‐related syndrome is caused by biallelic, pathogenic variants in the CRB2 gene. Recent reports of CRB2‐RS have highlighted renal disease with persistent proteinuria and steroid‐resistant nephrotic syndrome (SRNS). We report six new and review 28 reported patients with pathogenic variants in CRB2. We compare clinical features and variant information in CRB2 in patients with CRB2‐RS and in those with isolated renal disease. The kidneys were the most frequently involved body system and 11 patients had only renal manifestations with SRNS or nephrotic syndrome. Central nervous system involvement was the next most common manifestation, followed by cardiac findings that included Scimitar syndrome. There was a significant clustering of pathogenic variants for CRB2‐RS in exons 8 and 10, whereas pathogenic variants in exons 12 and 13 were associated with isolated renal disease. Further information is needed to determine optimal management but monitoring for renal and ocular complications should be considered. [ABSTRACT FROM AUTHOR]
Published: 2023
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45. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Author: Richard, Elodie M., primary, Bakhtiari, Somayeh, additional, Marsh, Ashley P.L., additional, Kaiyrzhanov, Rauan, additional, Wagner, Matias, additional, Shetty, Sheetal, additional, Pagnozzi, Alex, additional, Nordlie, Sandra M., additional, Guida, Brandon S., additional, Cornejo, Patricia, additional, Magee, Helen, additional, Liu, James, additional, Norton, Bethany Y., additional, Webster, Richard I., additional, Worgan, Lisa, additional, Hakonarson, Hakon, additional, Li, Jiankang, additional, Guo, Yiran, additional, Jain, Mahim, additional, Blesson, Alyssa, additional, Rodan, Lance H., additional, Abbott, Mary-Alice, additional, Comi, Anne, additional, Cohen, Julie S., additional, Alhaddad, Bader, additional, Meitinger, Thomas, additional, Lenz, Dominic, additional, Ziegler, Andreas, additional, Kotzaeridou, Urania, additional, Brunet, Theresa, additional, Chassevent, Anna, additional, Smith-Hicks, Constance, additional, Ekstein, Joseph, additional, Weiden, Tzvi, additional, Hahn, Andreas, additional, Zharkinbekova, Nazira, additional, Turnpenny, Peter, additional, Tucci, Arianna, additional, Yelton, Melissa, additional, Horvath, Rita, additional, Gungor, Serdal, additional, Hiz, Semra, additional, Oktay, Yavuz, additional, Lochmuller, Hanns, additional, Zollino, Marcella, additional, Morleo, Manuela, additional, Marangi, Giuseppe, additional, Nigro, Vincenzo, additional, Torella, Annalaura, additional, Pinelli, Michele, additional, Amenta, Simona, additional, Husain, Ralf A., additional, Grossmann, Benita, additional, Rapp, Marion, additional, Steen, Claudia, additional, Marquardt, Iris, additional, Grimmel, Mona, additional, Grasshoff, Ute, additional, Korenke, G. Christoph, additional, Owczarek-Lipska, Marta, additional, Neidhardt, John, additional, Radio, Francesca Clementina, additional, Mancini, Cecilia, additional, Claps Sepulveda, Dianela Judith, additional, McWalter, Kirsty, additional, Begtrup, Amber, additional, Crunk, Amy, additional, Guillen Sacoto, Maria J., additional, Person, Richard, additional, Schnur, Rhonda E., additional, Mancardi, Maria Margherita, additional, Kreuder, Florian, additional, Striano, Pasquale, additional, Zara, Federico, additional, Chung, Wendy K., additional, Marks, Warren A., additional, van Eyk, Clare L., additional, Webber, Dani L., additional, Corbett, Mark A., additional, Harper, Kelly, additional, Berry, Jesia G., additional, MacLennan, Alastair H., additional, Gecz, Jozef, additional, Tartaglia, Marco, additional, Salpietro, Vincenzo, additional, Christodoulou, John, additional, Kaslin, Jan, additional, Padilla-Lopez, Sergio, additional, Bilguvar, Kaya, additional, Munchau, Alexander, additional, Ahmed, Zubair M., additional, Hufnagel, Robert B., additional, Fahey, Michael C., additional, Maroofian, Reza, additional, Houlden, Henry, additional, Sticht, Heinrich, additional, Mane, Shrikant M., additional, Rad, Aboulfazl, additional, Vona, Barbara, additional, Jin, Sheng Chih, additional, Haack, Tobias B., additional, Makowski, Christine, additional, Hirsch, Yoel, additional, Riazuddin, Saima, additional, and Kruer, Michael C., additional
Published: 2021
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46. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

Author: DeSanto, Cori, DʼAco, Kristin, Araujo, Gabriel C, Shannon, Nora, Study, DDD, Vernon, Hilary, Rahrig, April, Monaghan, Kristin G, Niu, Zhiyv, Vitazka, Patrik, Dodd, Jonathan, Tang, Sha, Manwaring, Linda, Martir-Negron, Arelis, Schnur, Rhonda E, Juusola, Jane, Schroeder, Audrey, Pan, Vivian, Helbig, Katherine L, Friedman, Bethany, and Shinawi, Marwan
Published: 2015
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47. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

Author: Ballif, Blake C., Rosenfeld, Jill A., Traylor, Ryan, Theisen, Aaron, Bader, Patricia I., Ladda, Roger L., Sell, Susan L., Steinraths, Michelle, Surti, Urvashi, McGuire, Marianne, Williams, Shelley, Farrell, Sandra A., Filiano, James, Schnur, Rhonda E., Coffey, Lauren B., Tervo, Raymond C., Stroud, Tracy, Marble, Michael, Netzloff, Michael, Hanson, Kristen, Aylsworth, Arthur S., Bamforth, J. S., Babu, Deepti, Niyazov, Dmitriy M., Ravnan, J. Britt, Schultz, Roger A., Lamb, Allen N., Torchia, Beth S., Bejjani, Bassem A., and Shaffer, Lisa G.
Published: 2012
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48. Biallelic PRMT7pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Author: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P., Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K., Wigby, Kristen M., Baralle, Diana, Mehrjardi, Mohammad Y.V., Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M., Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T., Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E., Ercan-Sencicek, A. Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C., Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N., Kraus, Alison, Valenzuela, Irene, McLean, Scott D., Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E., Torti, Erin, Haack, Tobias B., Prada, Carlos E., Alkuraya, Fowzan S., Houlden, Henry, and Maroofian, Reza
Abstract: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome. Thus, we aim to delineate the phenotypic spectrum of PRMT7-related disorder.
Published: 2023
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49. De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Author: Sleyp, Yoeri, Valenzuela, Irene, Accogli, Andrea, Ballon, Katleen, Ben-Zeev, Bruria, Berkovic, Samuel F., Broly, Martin, Callaerts, Patrick, Caylor, Raymond C., Charles, Perrine, Chatron, Nicolas, Cohen, Lior, Coppola, Antonietta, Cordeiro, Dawn, Cuccurullo, Claudia, Cuscó, Ivon, diMonda, Janette, Duran-Romaña, Ramon, Ekhilevitch, Nina, Fernández-Alvarez, Paula, Gordon, Christopher T., Isidor, Bertrand, Keren, Boris, Lesca, Gaetan, Maljaars, Jarymke, Mercimek-Andrews, Saadet, Morrow, Michelle M., Muir, Alison M., Rousseau, Frederic, Salpietro, Vincenzo, Scheffer, Ingrid E., Schnur, Rhonda E., Schymkowitz, Joost, Souche, Erika, Steyaert, Jean, Stolerman, Elliot S., Vengoechea, Jaime, Ville, Dorothée, Washington, Camerun, Weiss, Karin, Zaid, Rinat, Sadleir, Lynette G., Mefford, Heather C., and Peeters, Hilde
Abstract: KLHL20 is part of a CUL3-RING E3 ubiquitin ligase involved in protein ubiquitination. KLHL20 functions as the substrate adaptor that recognizes substrates and mediates the transfer of ubiquitin to the substrates. Although KLHL20 regulates neurite outgrowth and synaptic development in animal models, a role in human neurodevelopment has not yet been described. We report on a neurodevelopmental disorder caused by de novo missense variants in KLHL20.
Published: 2022
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50. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Author: Voisin, Norine, primary, Schnur, Rhonda E., additional, Douzgou, Sofia, additional, Hiatt, Susan M., additional, Rustad, Cecilie F., additional, Brown, Natasha J., additional, Earl, Dawn L., additional, Keren, Boris, additional, Levchenko, Olga, additional, Geuer, Sinje, additional, Verheyen, Sarah, additional, Johnson, Diana, additional, Zarate, Yuri A., additional, Hančárová, Miroslava, additional, Amor, David J., additional, Bebin, E. Martina, additional, Blatterer, Jasmin, additional, Brusco, Alfredo, additional, Cappuccio, Gerarda, additional, Charrow, Joel, additional, Chatron, Nicolas, additional, Cooper, Gregory M., additional, Courtin, Thomas, additional, Dadali, Elena, additional, Delafontaine, Julien, additional, Del Giudice, Ennio, additional, Doco, Martine, additional, Douglas, Ganka, additional, Eisenkölbl, Astrid, additional, Funari, Tara, additional, Giannuzzi, Giuliana, additional, Gruber-Sedlmayr, Ursula, additional, Guex, Nicolas, additional, Heron, Delphine, additional, Holla, Øystein L., additional, Hurst, Anna C.E., additional, Juusola, Jane, additional, Kronn, David, additional, Lavrov, Alexander, additional, Lee, Crystle, additional, Lorrain, Séverine, additional, Merckoll, Else, additional, Mikhaleva, Anna, additional, Norman, Jennifer, additional, Pradervand, Sylvain, additional, Prchalová, Darina, additional, Rhodes, Lindsay, additional, Sanders, Victoria R., additional, Sedláček, Zdeněk, additional, Seebacher, Heidelis A., additional, Sellars, Elizabeth A., additional, Sirchia, Fabio, additional, Takenouchi, Toshiki, additional, Tanaka, Akemi J., additional, Taska-Tench, Heidi, additional, Tønne, Elin, additional, Tveten, Kristian, additional, Vitiello, Giuseppina, additional, Vlčková, Markéta, additional, Uehara, Tomoko, additional, Nava, Caroline, additional, Yalcin, Binnaz, additional, Kosaki, Kenjiro, additional, Donnai, Dian, additional, Mundlos, Stefan, additional, Brunetti-Pierri, Nicola, additional, Chung, Wendy K., additional, and Reymond, Alexandre, additional
Published: 2021
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