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169 results on '"Douglas, Ganka"'

1. CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

Author

Maio, Nunziata, Orbach, Rotem, Zaharieva, Irina T., Topf, Ana, Donkervoort, Sandra, Munot, Pinki, Mueller, Juliane, Willis, Tracey, Verma, Sumit, Peric, Stojan, Krishnakumar, Deepa, Sudhakar, Sniya, Foley, A. Reghan, Silverstein, Sarah, Douglas, Ganka, Pais, Lynn, DiTroia, Stephanie, Grunseich, Christopher, Hu, Ying, Sewry, Caroline, Sarkozy, Anna, Straub, Volker, Muntoni, Francesco, Rouault, Tracey A., and Bonnemann, Carsten G.

Subjects
Gene mutations -- Research, Cytoplasm -- Genetic aspects -- Health aspects, Medical research, Medicine, Experimental, Neuromuscular diseases -- Causes of -- Genetic aspects, Iron proteins -- Genetic aspects -- Health aspects, Enzymes -- Genetic aspects -- Health aspects, Health care industry
Abstract

Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance and replication depend on the cytoplasmic Fe-S assembly (CIA) machinery for cluster acquisition. The core of the CIA machinery consists of a complex of CIAO1, MMS19 and FAM96B. The physiological consequences of loss of function in the components of the CIA pathway have thus far remained uncharacterized. Our study revealed that patients with biallelic loss of function in CIAO1 developed proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. In addition, they presented with CNS symptoms including learning difficulties and neurobehavioral comorbidities, along with iron deposition in deep brain nuclei, mild normocytic to macrocytic anemia, and gastrointestinal symptoms. Mutational analysis revealed reduced stability of the variants compared with WT CIAO1. Functional assays demonstrated failure of the variants identified in patients to recruit Fe-S recipient proteins, resulting in compromised activities of DNA helicases, polymerases, and repair enzymes that rely on the CIA complex to acquire their Fe-S cofactors. Lentivirus-mediated restoration of CIAO1 expression reversed all patient-derived cellular abnormalities. Our study identifies CIAO1 as a human disease gene and provides insights into the broader implications of the cytosolic Fe-S assembly pathway in human health and disease., Introduction Iron-sulfur (Fe-S) clusters are ancient and evolutionarily conserved prosthetic groups with unique chemical properties that enable the proteins that contain them (Fe-S proteins) to function in several essential cellular [...]

Published
2024
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2. Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Author

Slavotinek, Anne, Misceo, Doriana, Htun, Stephanie, Mathisen, Linda, Frengen, Eirik, Foreman, Michelle, Hurtig, Jennifer E, Enyenihi, Liz, Sterrett, Maria C, Leung, Sara W, Schneidman-Duhovny, Dina, Estrada-Veras, Juvianee, Duncan, Jacque L, Haaxma, Charlotte A, Kamsteeg, Erik-Jan, Xia, Vivian, Beleford, Daniah, Si, Yue, Douglas, Ganka, Treidene, Hans Einar, van Hoof, Ambro, Fasken, Milo B, and Corbett, Anita H

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Rare Diseases, Neurosciences, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Animals, Antigens, Neoplasm, Cerebellum, Developmental Disabilities, Dwarfism, Exosome Multienzyme Ribonuclease Complex, Frameshift Mutation, Homozygote, Humans, Mutation, Missense, Nervous System Malformations, Pedigree, RNA-Binding Proteins, Zebrafish, Medical and Health Sciences, Genetics & Heredity
Abstract

The RNA exosome is an essential ribonuclease complex required for processing and/or degradation of both coding and non-coding RNAs. We identified five patients with biallelic variants in EXOSC5, which encodes a structural subunit of the RNA exosome. The clinical features of these patients include failure to thrive, short stature, feeding difficulties, developmental delays that affect motor skills, hypotonia and esotropia. Brain MRI revealed cerebellar hypoplasia and ventriculomegaly. While we ascertained five patients, three patients with distinct variants of EXOSC5 were studied in detail. The first patient had a deletion involving exons 5-6 of EXOSC5 and a missense variant, p.Thr114Ile, that were inherited in trans, the second patient was homozygous for p.Leu206His and the third patient had paternal isodisomy for chromosome 19 and was homozygous for p.Met148Thr. The additional two patients ascertained are siblings who had an early frameshift mutation in EXOSC5 and the p.Thr114Ile missense variant that were inherited in trans. We employed three complementary approaches to explore the requirement for EXOSC5 in brain development and assess consequences of pathogenic EXOSC5 variants. Loss of function for exosc5 in zebrafish results in shortened and curved tails/bodies, reduced eye/head size and edema. We modeled pathogenic EXOSC5 variants in both budding yeast and mammalian cells. Some of these variants cause defects in RNA exosome function as well as altered interactions with other RNA exosome subunits. These findings expand the number of genes encoding RNA exosome subunits linked to human disease while also suggesting that disease mechanism varies depending on the specific pathogenic variant.

Published
2020

3. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Author

Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T, Nesbitt, Addie I, Au, PY Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M, Cao, Kajia, de Brouwer, Arjan PM, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire LS, Verbeek, Nienke E, Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G, Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Study, Deciphering Developmental Disorders, Kleefstra, Tjitske, Robertson, Stephen P, Santani, Avni, van Gassen, Koen LI, and Deardorff, Matthew A

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Dental/Oral and Craniofacial Disease, Rare Diseases, Neurodegenerative, Epilepsy, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Amino Acid Sequence, Base Sequence, Child, Preschool, Chromosome Deletion, Facies, Female, Gait, Growth and Development, Haploinsufficiency, Humans, Intellectual Disability, Male, Mutation, Proteins, RNA Stability, Seizures, Syndrome, Deciphering Developmental Disorders Study, WD-40, WDR protein, WDR26, intellectual disability, seizure, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. These subjects share a set of common facial features that include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip. Together, these features comprise a recognizable facial phenotype. We compared these features with those of chromosome 1q41q42 microdeletion syndrome, which typically contains WDR26, and noted that clinical features are consistent between the two subsets, suggesting that haploinsufficiency of WDR26 contributes to the pathology of 1q41q42 microdeletion syndrome. Consistent with this, WDR26 loss-of-function single-nucleotide mutations identified in these subjects lead to nonsense-mediated decay with subsequent reduction of RNA expression and protein levels. We derived a structural model of WDR26 and note that missense variants identified in these individuals localize to highly conserved residues of this WD-40-repeat-containing protein. Given that WDR26 mutations have been identified in ∼1 in 2,000 of subjects in our clinical cohorts and that WDR26 might be poorly annotated in exome variant-interpretation pipelines, we would anticipate that this disorder could be more common than currently appreciated.

Published
2017

5. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Author

Kim, Jung-Hyun, Shinde, Deepali N, Reijnders, Margot RF, Hauser, Natalie S, Belmonte, Rebecca L, Wilson, Gregory R, Bosch, Daniëlle GM, Bubulya, Paula A, Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K, Park, Eun Young, Veltman, Joris A, Sinnema, Margje, Stumpel, Connie TRM, Draaisma, Jos M, Nicolai, Joost, Genomics, University of Washington Center for Mendelian, Yntema, Helger G, Lindstrom, Kristin, de Vries, Bert BA, Jewett, Tamison, Santoro, Stephanie L, Vogt, Julie, Study, Deciphering Developmental Disorders, Bachman, Kristine K, Seeley, Andrea H, Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M, Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A, Behunova, Jana, Rehder, Helga, Gordon, Christopher T, Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T, McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander PA, Stevens, Servi JC, Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G, Brunner, Han G, Mancini, Grazia M, Myers, Richard M, Owen, Laurie B, Lim, Ssang-Taek, Stachura, David L, Vissers, Lisenka ELM, and Ahn, Eun-Young Erin

Subjects
Brain Disorders, Congenital Structural Anomalies, Neurosciences, Mental Health, Clinical Research, Genetics, Pediatric, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Congenital, Animals, Brain, DNA-Binding Proteins, Developmental Disabilities, Eye Abnormalities, Female, Genes, Essential, Haploinsufficiency, Head, Heterozygote, Humans, Intellectual Disability, Male, Metabolic Diseases, Minor Histocompatibility Antigens, Mutation, Pedigree, RNA Splicing, RNA, Messenger, Spine, Syndrome, Zebrafish, University of Washington Center for Mendelian Genomics, Deciphering Developmental Disorders Study, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants, as well as the underlying molecular mechanisms explaining the diseases, are often lacking. Here, we report on an ID syndrome caused by de novo heterozygous loss-of-function (LoF) mutations in SON. The syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Knockdown of son in zebrafish resulted in severe malformation of the spine, brain, and eyes. Importantly, analyses of RNA from affected individuals revealed that genes critical for neuronal migration and cortex organization (TUBG1, FLNA, PNKP, WDR62, PSMD3, and HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA) are significantly downregulated because of the accumulation of mis-spliced transcripts resulting from erroneous SON-mediated RNA splicing. Our data highlight SON as a master regulator governing neurodevelopment and demonstrate the importance of SON-mediated RNA splicing in human development.

Published
2016

6. Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes

Author

Maio, Nunziata, primary, Orbach, Rotem, additional, Zaharieva, Irina, additional, Töpf, Ana, additional, Donkervoort, Sandra, additional, Munot, Pinki, additional, Mueller, Juliane, additional, Willis, Tracey, additional, Verma, Sumit, additional, Peric, Stojan, additional, Krishnakumar, Deepa, additional, Sudhakar, Sniya, additional, Foley, Aileen Reghan, additional, Silverstein, Sarah, additional, Douglas, Ganka, additional, Pais, Lynn, additional, DiTroia, Stephanie, additional, Grunseich, Christopher, additional, Hu, Ying, additional, Sewry, Caroline, additional, Sarkozy, Anna, additional, Straub, Volker, additional, Muntoni, Francesco, additional, Rouault, Tracey, additional, and Bönnemann, Carsten Gerhart, additional

Published
2023
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8. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Author

Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, Jr., John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., and Juusola, Jane

Published
2019
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9. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

Author

Okur, Volkan, Cho, Megan T., van Wijk, Richard, van Oirschot, Brigitte, Picker, Jonathan, Coury, Stephanie A., Grange, Dorothy, Manwaring, Linda, Krantz, Ian, Muraresku, Colleen Clark, Hulick, Peter J., May, Holley, Pierce, Eric, Place, Emily, Bujakowska, Kinga, Telegrafi, Aida, Douglas, Ganka, Monaghan, Kristin G., Begtrup, Amber, Wilson, Ashley, Retterer, Kyle, Anyane-Yeboa, Kwame, and Chung, Wendy K.

Published
2019
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10. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Author

Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., and Mefford, Heather C.

Published
2019
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11. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Author

Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Harel, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., and Cox, Gregory A.

Published
2020
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12. Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Author

Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Harel, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., and Cox, Gregory A.

Published
2020
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14. 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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15. 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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17. P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

Author

Douglas, Ganka, primary, Meck, Jeanne, additional, Dyer, Lindsay Havens, additional, Brandon, Rhonda, additional, Dyer, Lisa, additional, Ferri, Patricia Fernandez, additional, Liao, Mingjuan, additional, Liu, Shuxi, additional, Matyakhina, Ludmila, additional, Rajcan-Separovic, Evica, additional, Sack, Laura, additional, Sanyoura, May, additional, Wang, Wei, additional, and Kruszka, Paul, additional

Published
2023
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18. 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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22. Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Author

Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., and Mefford, Heather C.

Published
2019
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23. Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

Author

Steele, Jacqueline L., primary, Morrow, Michelle M., additional, Sarnat, Harvey B., additional, Alkhunaizi, Ebba, additional, Brandt, Tracy, additional, Chitayat, David A., additional, DeFilippo, Colette P., additional, Douglas, Ganka V., additional, Dubbs, Holly A., additional, Elloumi, Houda Zghal, additional, Glassford, Megan R., additional, Hannibal, Mark C., additional, Héron, Bénédicte, additional, Kim, Linda E., additional, Marco, Elysa J., additional, Mignot, Cyril, additional, Monaghan, Kristin G., additional, Myers, Kenneth A., additional, Parikh, Sumit, additional, Quinonez, Shane C., additional, Rajabi, Farrah, additional, Shankar, Suma P., additional, Shinawi, Marwan S., additional, van de Kamp, Jiddeke J.P., additional, Veerapandiyan, Aravindhan, additional, Waldman, Amy T., additional, and Graf, William D., additional

Published
2022
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24. 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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25. Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Author

Slavotinek, Anne, primary, Misceo, Doriana, additional, Htun, Stephanie, additional, Mathisen, Linda, additional, Frengen, Eirik, additional, Foreman, Michelle, additional, Hurtig, Jennifer E., additional, Enyenihi, Liz, additional, Sterrett, Maria C., additional, Leung, Sara W., additional, Schneidman-Duhovny, Dina, additional, Estrada-Veras, Juvianee, additional, Duncan, Jacque L., additional, Xia, Vivian, additional, Beleford, Daniah, additional, Si, Yue, additional, Douglas, Ganka, additional, Treidene, Hans Einar, additional, van Hoof, Ambro, additional, Fasken, Milo B., additional, and Corbett, Anita H., additional

Published
2020
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26. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Author

Mattioli, Francesca, primary, Hayot, Gaelle, additional, Drouot, Nathalie, additional, Isidor, Bertrand, additional, Courraud, Jérémie, additional, Hinckelmann, Maria-Victoria, additional, Mau-Them, Frederic Tran, additional, Sellier, Chantal, additional, Goldman, Alica, additional, Telegrafi, Aida, additional, Boughton, Alicia, additional, Gamble, Candace, additional, Moutton, Sebastien, additional, Quartier, Angélique, additional, Jean, Nolwenn, additional, Van Ness, Paul, additional, Grotto, Sarah, additional, Nambot, Sophie, additional, Douglas, Ganka, additional, Si, Yue Cindy, additional, Chelly, Jamel, additional, Shad, Zohra, additional, Kaplan, Elisabeth, additional, Dineen, Richard, additional, Golzio, Christelle, additional, Charlet-Berguerand, Nicolas, additional, Mandel, Jean-Louis, additional, and Piton, Amélie, additional

Published
2020
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27. Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features

Author

Mattioli, Francesca, primary, Hayot, Gaelle, additional, Drouot, Nathalie, additional, Isidor, Bertrand, additional, Courraud, Jérémie, additional, Mau-Them, Frederic Tran, additional, Sellier, Chantal, additional, Hinckelmann, Maria-Victoria, additional, Goldman, Alica, additional, Telegrafi, Aida, additional, Boughton, Alicia, additional, Gamble, Candace, additional, Moutton, Sebastien, additional, Quartier, Angélique, additional, Jean, Nolwenn, additional, Ness, Paul Van, additional, Grotto, Sarah, additional, Nambot, Sophie, additional, Douglas, Ganka, additional, Si, Yue Cindy, additional, Chelly, Jamel, additional, Shad, Zohra, additional, Kaplan, Elisabeth, additional, Dineen, Richard, additional, Golzio, Christelle, additional, Charlet, Nicolas, additional, Jean-Louis, Mandel, additional, and Amélie, Piton, additional

Published
2019
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28. Variants in the degron ofAFF3cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental 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, Amor, David, additional, Brusco, Alfredo, additional, Bebin, E. Martina, additional, Cappuccio, Gerarda, additional, Charrow, Joel, additional, Chatron, Nicolas, additional, Cooper, Gregory M., additional, Dadali, Elena, additional, Delafontaine, Julien, additional, Del Giudice, Ennio, additional, Douglas, Ganka, additional, Funari, Tara, additional, Giannuzzi, Giuliana, 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, Merckoll, Else, additional, Mikhaleva, Anna, additional, Norman, Jennifer, additional, Pradervand, Sylvain, additional, Sanders, Victoria, additional, Sirchia, Fabio, additional, Takenouchi, Toshiki, additional, Tanaka, Akemi J., additional, Taska-Tench, Heidi, additional, Tønne, Elin, additional, Tveten, Kristian, additional, Vitiello, Giuseppina, 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
2019
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30. SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

Author

Kim, Jung-Hyun, primary, Park, Eun Young, additional, Chitayat, David, additional, Stachura, David L., additional, Schaper, Jörg, additional, Lindstrom, Kristin, additional, Jewett, Tamison, additional, Wieczorek, Dagmar, additional, Draaisma, Jos M., additional, Sinnema, Margje, additional, Hoeberigs, Christianne, additional, Hempel, Maja, additional, Bachman, Kristine K., additional, Seeley, Andrea H., additional, Stone, Joshua K., additional, Kong, Hyun Kyung, additional, Vukadin, Lana, additional, Richard, Alexander, additional, Shinde, Deepali N., additional, McWalter, Kirsty, additional, Si, Yue Cindy, additional, Douglas, Ganka, additional, Lim, Ssang-Taek, additional, Vissers, Lisenka E.L.M., additional, Lemaire, Mathieu, additional, and Ahn, Eun-Young Erin, additional

Published
2019
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31. 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, Andre, 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, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M., 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, Andre, 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, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., and Campeau, Philippe M.

Published
2018

32. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author

Genetica Klinische Genetica, Brain, MS Gynaecologische Oncologie, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Child Health, 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, Andre, 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, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M., Genetica Klinische Genetica, Brain, MS Gynaecologische Oncologie, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Child Health, 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, Andre, 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, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., and Campeau, Philippe M.

Published
2018

33. Correction: Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes (PLoS ONE (2010) 5:12 (e15687) DOI: 10.1371/journal.pone.0015687)

Author

Sadikovic, Bekim, Wang, Jing, El-Hattab, Ayman W., Landsverk, Megan, Douglas, Ganka, Brundage, Ellen K., Craigen, William J., Schmitt, Eric S., and Wong, Lee Jun C.

Abstract

The middle initial of the third author is missing. The third author’s complete name is: Ayman W. El-Hattab. The correct citation is: Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, et al. (2010) Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes. PLoS ONE 5(12): e15687. https://doi.org/10.1371/journal.pone.0015687.

Published
2017

34. Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Author

Dines, Jennifer N., primary, Golden-Grant, Katie, additional, LaCroix, Amy, additional, Muir, Alison M., additional, Cintrón, Dianne Laboy, additional, McWalter, Kirsty, additional, Cho, Megan T., additional, Sun, Angela, additional, Merritt, J. Lawrence, additional, Thies, Jenny, additional, Niyazov, Dmitriy, additional, Burton, Barbara, additional, Kim, Katherine, additional, Fleming, Leah, additional, Westman, Rachel, additional, Karachunski, Peter, additional, Dalton, Joline, additional, Basinger, Alice, additional, Ficicioglu, Can, additional, Helbig, Ingo, additional, Pendziwiat, Manuela, additional, Muhle, Hiltrud, additional, Helbig, Katherine L., additional, Caliebe, Almuth, additional, Santer, René, additional, Becker, Kolja, additional, Suchy, Sharon, additional, Douglas, Ganka, additional, Millan, Francisca, additional, Begtrup, Amber, additional, Monaghan, Kristin G., additional, and Mefford, Heather C., additional

Published
2018
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35. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Author

Ferreira, Carlos R., primary, Xia, Zhi-Jie, additional, Clément, Aurélie, additional, Parry, David A., additional, Davids, Mariska, additional, Taylan, Fulya, additional, Sharma, Prashant, additional, Turgeon, Coleman T., additional, Blanco-Sánchez, Bernardo, additional, Ng, Bobby G., additional, Logan, Clare V., additional, Wolfe, Lynne A., additional, Solomon, Benjamin D., additional, Cho, Megan T., additional, Douglas, Ganka, additional, Carvalho, Daniel R., additional, Bratke, Heiko, additional, Haug, Marte Gjøl, additional, Phillips, Jennifer B., additional, Wegner, Jeremy, additional, Tiemeyer, Michael, additional, Aoki, Kazuhiro, additional, Nordgren, Ann, additional, Hammarsjö, Anna, additional, Duker, Angela L., additional, Rohena, Luis, additional, Hove, Hanne Buciek, additional, Ek, Jakob, additional, Adams, David, additional, Tifft, Cynthia J., additional, Onyekweli, Tito, additional, Weixel, Tara, additional, Macnamara, Ellen, additional, Radtke, Kelly, additional, Powis, Zöe, additional, Earl, Dawn, additional, Gabriel, Melissa, additional, Russi, Alvaro H. Serrano, additional, Brick, Lauren, additional, Kozenko, Mariya, additional, Tham, Emma, additional, Raymond, Kimiyo M., additional, Phillips, John A., additional, Tiller, George E., additional, Wilson, William G., additional, Hamid, Rizwan, additional, Malicdan, May C.V., additional, Nishimura, Gen, additional, Grigelioniene, Giedre, additional, Jackson, Andrew, additional, Westerfield, Monte, additional, Bober, Michael B., additional, Gahl, William A., additional, and Freeze, Hudson H., additional

Published
2018
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36. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

Author

Granadillo, Jorge L., primary, Chung, Wendy K., additional, Hecht, Leah, additional, Corsten-Janssen, Nicole, additional, Wegner, Daniel, additional, Nij Bijvank, Sebastiaan W.A., additional, Toler, Tomi L., additional, Pineda-Alvarez, Daniel E., additional, Douglas, Ganka, additional, Murphy, Joshua J., additional, Shimony, Joshua, additional, and Shinawi, Marwan, additional

Published
2018
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37. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

Author

Douglas, Ganka, primary, Cho, Megan T., additional, Telegrafi, Aida, additional, Winter, Susan, additional, Carmichael, Jason, additional, Zackai, Elaine H., additional, Deardorff, Matthew A., additional, Harr, Margaret, additional, Williams, Linford, additional, Psychogios, Apostolos, additional, Erwin, Angelika L., additional, Grebe, Theresa, additional, Retterer, Kyle, additional, and Juusola, Jane, additional

Published
2018
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38. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Author

Straub, Jonas, primary, Konrad, Enrico D.H., additional, Grüner, Johanna, additional, Toutain, Annick, additional, Bok, Levinus A., additional, Cho, Megan T., additional, Crawford, Heather P., additional, Dubbs, Holly, additional, Douglas, Ganka, additional, Jobling, Rebekah, additional, Johnson, Diana, additional, Krock, Bryan, additional, Mikati, Mohamad A., additional, Nesbitt, Addie, additional, Nicolai, Joost, additional, Phillips, Meredith, additional, Poduri, Annapurna, additional, Ortiz-Gonzalez, Xilma R., additional, Powis, Zöe, additional, Santani, Avni, additional, Smith, Lacey, additional, Stegmann, Alexander P.A., additional, Stumpel, Constance, additional, Vreeburg, Maaike, additional, Fliedner, Anna, additional, Gregor, Anne, additional, Sticht, Heinrich, additional, and Zweier, Christiane, additional

Published
2018
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39. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Author

Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T., Nesbitt, Addie I, Au, P Y Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P M, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L S, Verbeek, Nienke E., Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A, Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T., Nesbitt, Addie I, Au, P Y Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P M, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L S, Verbeek, Nienke E., Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., and Deardorff, Matthew A

Published
2017

41. Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Author

Chen, Chun-An, primary, Bosch, Daniëlle G M, additional, Cho ScM, Megan T, additional, Rosenfeld, Jill A, additional, Shinawi, Marwan, additional, Lewis, Richard Alan, additional, Mann, John, additional, Jayakar, Parul, additional, Payne, Katelyn, additional, Walsh, Laurence, additional, Moss, Timothy, additional, Schreiber, Allison, additional, Schoonveld, Cheri, additional, Monaghan, Kristin G, additional, Elmslie, Frances, additional, Douglas, Ganka, additional, Boonstra, F Nienke, additional, Millan, Francisca, additional, Cremers, Frans P M, additional, McKnight, Dianalee, additional, Richard, Gabriele, additional, Juusola, Jane, additional, Kendall, Fran, additional, Ramsey, Keri, additional, Anyane-Yeboa, Kwame, additional, Malkin, Elfrida, additional, Chung, Wendy K, additional, Niyazov, Dmitriy, additional, Pascual, Juan M, additional, Walkiewicz, Magdalena, additional, Veluchamy, Vivekanand, additional, Li, Chumei, additional, Hisama, Fuki M, additional, de Vries, Bert B A, additional, and Schaaf, Christian, additional

Published
2017
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44. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Author

Chen, Chun-An, primary, Bosch, Daniëlle G.M., additional, Cho, Megan T., additional, Rosenfeld, Jill A., additional, Shinawi, Marwan, additional, Lewis, Richard Alan, additional, Mann, John, additional, Jayakar, Parul, additional, Payne, Katelyn, additional, Walsh, Laurence, additional, Moss, Timothy, additional, Schreiber, Allison, additional, Schoonveld, Cheri, additional, Monaghan, Kristin G., additional, Elmslie, Frances, additional, Douglas, Ganka, additional, Boonstra, F. Nienke, additional, Millan, Francisca, additional, Cremers, Frans P.M., additional, McKnight, Dianalee, additional, Richard, Gabriele, additional, Juusola, Jane, additional, Kendall, Fran, additional, Ramsey, Keri, additional, Anyane-Yeboa, Kwame, additional, Malkin, Elfrida, additional, Chung, Wendy K., additional, Niyazov, Dmitriy, additional, Pascual, Juan M., additional, Walkiewicz, Magdalena, additional, Veluchamy, Vivekanand, additional, Li, Chumei, additional, Hisama, Fuki M., additional, de Vries, Bert B.A., additional, and Schaaf, Christian, additional

Published
2016
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45. Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Author

Flex, Elisabetta, primary, Niceta, Marcello, additional, Cecchetti, Serena, additional, Thiffault, Isabelle, additional, Au, Margaret G., additional, Capuano, Alessandro, additional, Piermarini, Emanuela, additional, Ivanova, Anna A., additional, Francis, Joshua W., additional, Chillemi, Giovanni, additional, Chandramouli, Balasubramanian, additional, Carpentieri, Giovanna, additional, Haaxma, Charlotte A., additional, Ciolfi, Andrea, additional, Pizzi, Simone, additional, Douglas, Ganka V., additional, Levine, Kara, additional, Sferra, Antonella, additional, Dentici, Maria Lisa, additional, Pfundt, Rolph R., additional, Le Pichon, Jean-Baptiste, additional, Farrow, Emily, additional, Baas, Frank, additional, Piemonte, Fiorella, additional, Dallapiccola, Bruno, additional, Graham, John M., additional, Saunders, Carol J., additional, Bertini, Enrico, additional, Kahn, Richard A., additional, Koolen, David A., additional, and Tartaglia, Marco, additional

Published
2016
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46. Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Author

Bhoj, Elizabeth J., primary, Li, Dong, additional, Harr, Margaret, additional, Edvardson, Shimon, additional, Elpeleg, Orly, additional, Chisholm, Elizabeth, additional, Juusola, Jane, additional, Douglas, Ganka, additional, Guillen Sacoto, Maria J., additional, Siquier-Pernet, Karine, additional, Saadi, Abdelkrim, additional, Bole-Feysot, Christine, additional, Nitschke, Patrick, additional, Narravula, Alekhya, additional, Walke, Maria, additional, Horner, Michele B., additional, Day-Salvatore, Debra-Lynn, additional, Jayakar, Parul, additional, Vergano, Samantha A. Schrier, additional, Tarnopolsky, Mark A., additional, Hegde, Madhuri, additional, Colleaux, Laurence, additional, Crino, Peter, additional, and Hakonarson, Hakon, additional

Published
2016
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47. Variants in TCF20in neurodevelopmental disability: description of 27 new patients and review of literature

Author

Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., and Juusola, Jane

Abstract

To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients.

Published
2019
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48. De novo variants in HK1associated with neurodevelopmental abnormalities and visual impairment

Author

Okur, Volkan, Cho, Megan T., van Wijk, Richard, van Oirschot, Brigitte, Picker, Jonathan, Coury, Stephanie A., Grange, Dorothy, Manwaring, Linda, Krantz, Ian, Muraresku, Colleen Clark, Hulick, Peter J., May, Holley, Pierce, Eric, Place, Emily, Bujakowska, Kinga, Telegrafi, Aida, Douglas, Ganka, Monaghan, Kristin G., Begtrup, Amber, Wilson, Ashley, Retterer, Kyle, Anyane-Yeboa, Kwame, and Chung, Wendy K.

Abstract

Hexokinase 1 (HK1)phosphorylates glucose to glucose-6-phosphate, the first rate-limiting step in glycolysis. Homozygous and heterozygous variants in HK1have been shown to cause autosomal recessive non-spherocytic hemolytic anemia, autosomal recessive Russe type hereditary motor and sensory neuropathy, and autosomal dominant retinitis pigmentosa (adRP). We report seven patients from six unrelated families with a neurodevelopmental disorder associated with developmental delay, intellectual disability, structural brain abnormality, and visual impairments in whom we identified four novel, de novo missense variants in the N-terminal half of HK1. Hexokinase activity in red blood cells of two patients was normal, suggesting that the disease mechanism is not due to loss of hexokinase enzymatic activity.

Published
2019
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49. SONhaploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

Author

Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek, Vissers, Lisenka E.L.M., Lemaire, Mathieu, and Ahn, Eun-Young Erin

Abstract

Although genetic testing is increasingly used in clinical nephrology, a large number of patients with congenital abnormalities of the kidney and urinary tract (CAKUT) remain undiagnosed with current gene panels. Therefore, careful curation of novel genetic findings is key to improving diagnostic yields. We recently described a novel intellectual disability syndrome caused by de novoheterozygous loss-of-function mutations in the gene encoding the splicing factor SON. Here, we show that many of these patients, including two previously unreported, exhibit a wide array of kidney abnormalities. Detailed phenotyping of 14 patients with SONhaploinsufficiency identified kidney anomalies in 8 patients, including horseshoe kidney, unilateral renal hypoplasia, and renal cysts. Recurrent urinary tract infections, electrolyte disturbances, and hypertension were also observed in some patients. SONknockdown in kidney cell lines leads to abnormal pre-mRNA splicing, resulting in decreased expression of several established CAKUT genes. Furthermore, these molecular events were observed in patient-derived cells with SONhaploinsufficiency. Taken together, our data suggest that the wide spectrum of phenotypes in patients with a pathogenic SONmutation is a consequence of impaired pre-mRNA splicing of several CAKUT genes. We propose that genetic testing panels designed to diagnose children with a kidney phenotype should include the SONgene.

Published
2019
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50. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

Author

Tanaka, Akemi J., primary, Cho, Megan T., additional, Retterer, Kyle, additional, Jones, Julie R., additional, Nowak, Catherine, additional, Douglas, Jessica, additional, Jiang, Yong-Hui, additional, McConkie-Rosell, Allyn, additional, Schaefer, G. Bradley, additional, Kaylor, Julie, additional, Rahman, Omar A., additional, Telegrafi, Aida, additional, Friedman, Bethany, additional, Douglas, Ganka, additional, Monaghan, Kristin G., additional, and Chung, Wendy K., additional

Published
2015
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