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4. The impact of clinical genome sequencing in a global population with suspected rare genetic disease

Author

Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C., Campo, Miguel del, Basel, Donald, McCarrier, Julie, Keppen, Laura Davis, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M., Urraca, Nora, Bosfield, Kerri, Brown, Chester W., Lydigsen, Holly, Mroczkowski, Henry J., Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Peña, Lumaka, Aimé, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D., Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S., Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E., Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, James, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S., Perry, Denise L., Belmont, John, and Taft, Ryan J.

Published
2024
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5. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Author

Marshall, Christian, Meng, Linyan, Jobanputra, Vaidehi, Taft, Ryan, Ashley, Euan, Nakouzi, Ghunwa, Shen, Wei, Kingsmore, Stephen, Rehm, Heidi, Rehm, Heidi L., Alaimo, Joseph T., Aradhya, Swaroop, Bayrak-Toydemir, Pinar, Best, Hunter, Brandon, Rhonda, Buchan, Jillian G., Chao, Elizabeth C., Chen, Elaine, Clifford, Jacob, Cohen, Ana S.A., Conlin, Laura K., Das, Soma, Davis, Kyle W., del Gaudio, Daniela, Del Viso, Florencia, DiVincenzo, Christina, Eisenberg, Marcia, Guidugli, Lucia, Hammer, Monia B., Harrison, Steven M., Hatchell, Kathryn E., Dyer, Lindsay Havens, Hoang, Lily U., Holt, James M., Karbassi, Izabela D., Kearney, Hutton M., Kelly, Melissa A., Kelly, Jacob M., Kluge, Michelle L., Komala, Timothy, Kruszka, Paul, Lau, Lynette, Lebo, Matthew S., Marshall, Christian R., McKnight, Dianalee, McWalter, Kirsty, Meng, Yan, Nagan, Narasimhan, Neckelmann, Christian S., Neerman, Nir, Niu, Zhiyv, Paolillo, Vitoria K., Paolucci, Sarah A., Perry, Denise, Pesaran, Tina, Radtke, Kelly, Rasmussen, Kristen J., Retterer, Kyle, Saunders, Carol J., Spiteri, Elizabeth, Stanley, Christine, Szuto, Anna, Taft, Ryan J., Thiffault, Isabelle, Thomas, Brittany C., Thomas-Wilson, Amanda, Thorpe, Erin, Tidwell, Timothy J., Towne, Meghan C., and Zouk, Hana

Published
2023
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6. Development of a comprehensive genome-wide cardiovascular disease genetic risk assessment test

Author

Amendola, Laura M, primary, Coffey, Alison J, additional, Lowry, Josh, additional, Avecilla, James, additional, Malhotra, Alka, additional, Chawla, Aditi, additional, Thacker, Stetson, additional, Taylor, Julie P, additional, Rajkumar, Revathi, additional, Brown, Carolyn M, additional, Golden-Grant, Katie, additional, Hejja, Rueben, additional, Lee, Jennifer A, additional, Medrano, Phillip, additional, Milewski, Becky, additional, Mullen, Felipe, additional, Walker, Andrew, additional, Huertez-Vasquez, Adriana, additional, Longoni, Mauro, additional, Perry, Denise L, additional, Hostin, Damon, additional, Ajay, Subramanian S, additional, Kesari, Akanchha, additional, Strom, Samuel P, additional, Margulies, Elliott, additional, Belmont, John, additional, Lanfear, David E, additional, and Taft, Ryan J, additional

Published
2024
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7. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Author

Fountain, Michael D, Oleson, David S, Rech, Megan E, Segebrecht, Lara, Hunter, Jill V, McCarthy, John M, Lupo, Philip J, Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A, Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S, Pedersen, Robert C, Morgan, Thomas M, Pfotenhauer, Jean P, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L, Patel, Ankita, Krantz, Ian D, Raible, Sarah E, Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M, Person, Richard E, Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D, van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L, Taft, Ryan J, Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F, Horn, Denise, Spillmann, Rebecca C, Peña, Loren, Wierzba, Jolanta, Strom, Tim M, Parenti, Ilaria, Kaiser, Frank J, Ehmke, Nadja, and Schaaf, Christian P

Subjects
Biological Sciences, Genetics, Brain Disorders, Neurosciences, Behavioral and Social Science, Clinical Research, Pediatric, Congenital Structural Anomalies, Intellectual and Developmental Disabilities (IDD), Mental Health, Autism, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Autism Spectrum Disorder, Child, Child, Preschool, Chromosome Deletion, DNA-Binding Proteins, Genome, Human, Haploinsufficiency, Humans, Infant, Infant, Newborn, Intellectual Disability, Language Development Disorders, Neurodevelopmental Disorders, Nuclear Proteins, Phenotype, Problem Behavior, Proteins, Exome Sequencing, USP7, neurodevelopment, speech delay, white matter paucity, corpus callosum thinning, Clinical Sciences, Genetics & Heredity
Abstract

PurposeHaploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. Further, USP7 was identified to critically incorporate into the MAGEL2-USP7-TRIM27 (MUST), such that pathogenic variants in USP7 lead to altered endosomal F-actin polymerization and dysregulated protein recycling.MethodsWe report 16 newly identified individuals with heterozygous USP7 variants, identified by genome or exome sequencing or by chromosome microarray analysis. Clinical features were evaluated by review of medical records. Additional clinical information was obtained on the seven previously reported individuals to fully elucidate the phenotypic expression associated with USP7 haploinsufficiency.ResultsThe clinical manifestations of these 23 individuals suggest a syndrome characterized by DD/ID, hypotonia, eye anomalies,feeding difficulties, GERD, behavioral anomalies, and ASD, and more specific phenotypes of speech delays including a nonverbal phenotype and abnormal brain magnetic resonance image findings including white matter changes based on neuroradiologic examination.ConclusionThe consistency of clinical features among all individuals presented regardless of de novo USP7 variant type supports haploinsufficiency as a mechanism for pathogenesis and refines the clinical impact faced by affected individuals and caregivers.

Published
2019

8. Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes

Author

Simon, Mariella T, Eftekharian, Shaya S, Stover, Alexander E, Osborne, Aaron F, Braffman, Bruce H, Chang, Richard C, Wang, Raymond Y, Steenari, Maija R, Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J, Benke, Paul J, and Abdenur, Jose E

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Biopsy, Child, Child, Preschool, Electron Transport Complex I, Female, Humans, Infant, Leigh Disease, Male, Methyltransferases, Mitochondrial Diseases, Mitochondrial Proteins, Mutation, Pedigree, Phenotype, Skin, Exome Sequencing, Whole Genome Sequencing, Young Adult, Complex I, Leigh syndrome, Mitochondrial disease, Splicing, Hyponatremia, NDUFAF5, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Primary mitochondrial complex I deficiency is the most common defect of the mitochondrial respiratory chain. It is caused by defects in structural components and assembly factors of this large protein complex. Mutations in the assembly factor NDUFAF5 are rare, with only five families reported to date. This study provides clinical, biochemical, molecular and functional data for four unrelated additional families, and three novel pathogenic variants. Three cases presented in infancy with lactic acidosis and classic Leigh syndrome. One patient, however, has a milder phenotype, with symptoms starting at 27 months and a protracted clinical course with improvement and relapsing episodes. She is homozygous for a previously reported mutation, p.Met279Arg and alive at 19 years with mild neurological involvement, normal lactate but abnormal urine organic acids. We found the same mutation in one of our severely affected patients in compound heterozygosity with a novel p.Lys52Thr mutation. Both patients with p.Met279Arg are of Taiwanese descent and had severe hyponatremia. Our third and fourth patients, both Caucasian, shared a common, newly described, missense mutation p.Lys109Asn which we show induces skipping of exon 3. Both Caucasian patients were compound heterozygotes, one with a previously reported Ashkenazi founder mutation while the other was negative for additional exonic variants. Whole genome sequencing followed by RNA studies revealed a novel deep intronic variant at position c.223-907A>C inducing an exonic splice enhancer. Our report adds significant new information to the mutational spectrum of NDUFAF5, further delineating the phenotypic heterogeneity of this mitochondrial defect.

Published
2019

9. Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Author

Scocchia, Alicia, Wigby, Kristen M, Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I, Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S, Rajan, Vani, Perry, Denise L, Belmont, John W, Bentley, David R, Jones, Marilyn C, and Taft, Ryan J

Subjects
Clinical Research, Pediatric, Human Genome, Genetic Testing, Genetics, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, 4.2 Evaluation of markers and technologies, Good Health and Well Being, ICSL Interpretation and Reporting Team
Abstract

Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the "diagnostic odyssey". Patients in resource-limited areas face even greater challenges-a definitive diagnosis may never be reached due to difficulties in gaining access to clinicians, appropriate specialists, and diagnostic testing. Here, we report on a collaboration of the Illumina iHope Program with the Foundation for the Children of the Californias and Hospital Infantil de Las Californias, to enable deployment of clinical whole genome sequencing (cWGS) as first-tier test in a resource-limited dysmorphology clinic in northern Mexico. A total of 60 probands who were followed for a suspected genetic diagnosis and clinically unresolved after expert examination were tested with cWGS, and the ordering clinicians completed a semi-structured survey to investigate change in clinical management resulting from cWGS findings. Clinically significant genomic findings were identified in 68.3% (n = 41) of probands. No recurrent molecular diagnoses were observed. Copy number variants or gross chromosomal abnormalities accounted for 48.8% (n = 20) of the diagnosed cases, including a mosaic trisomy and suspected derivative chromosomes. A qualitative assessment of clinical management revealed 48.8% (n = 20) of those diagnosed had a change in clinical course based on their cWGS results, despite resource limitations. These data suggest that a cWGS first-tier testing approach can benefit patients with suspected genetic disorders.

Published
2019

10. Heterozygous WNT1 variant causing a variable bone phenotype

Author

Alhamdi, Shatha, Lee, Yi‐Chien, Chowdhury, Shimul, Byers, Peter H, Gottschalk, Michael, Taft, Ryan J, Joeng, Kyu Sang, Lee, Brendan H, and Bird, Lynne M

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Pediatric, Congenital Structural Anomalies, Rare Diseases, Clinical Research, Osteogenesis Imperfecta, Osteoporosis, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Adolescent, Aged, 80 and over, Bone and Bones, Child, Child, Preschool, Chromosome Duplication, Chromosomes, Human, Pair 22, Conserved Sequence, Female, Genetic Variation, Heterozygote, Humans, Infant, Male, Middle Aged, Pedigree, Phenotype, Wnt1 Protein, osteogenesis imperfecta, osteoporosis, WNT1 variant, WNT1 variant, Clinical Sciences, Clinical sciences
Abstract

Osteogenesis imperfecta (OI) is a family of heritable disorders of bone fragility. Most individuals with OI have mutations in the genes encoding type I collagen; at least 17 other genes have been associated with OI. Biallelic loss-of-function mutations in WNT1 cause severe OI. Heterozygous missense variants in WNT1 are responsible for early-onset osteoporosis with variable bone phenotypes. Herein, we report a third-generation family with four affected individuals, some presenting with multiple low-impact fractures in childhood and others presenting with early-onset osteoporosis without a striking fracture history. A WNT1 variant (c. 1051 > C; p.Trp351Arg) was identified in the proband and segregated with a bone phenotype in three additional family members, consistent with autosomal dominant inheritance. In the proband, whole genome sequencing also revealed a de novo duplication (434 kb) of 22q11.2 that involves 25 genes, 4 of which are associated with human disease when haploinsufficient. Though smaller than the typical (1.5 Mb) 22q11.2 duplication, the duplication in the proband may be responsible for additional nonosseous aspects of his phenotype (hypotonia, developmental delay, small genitalia, strabismus, and depression in preadolescence). This case demonstrates the variability of bone phenotype conferred by a WNT1 variant and extends the spectrum of bone phenotypes associated with heterozygous WNT1 mutations.

Published
2018

11. Best practices for the interpretation and reporting of clinical whole genome sequencing

Author

Austin-Tse, Christina A., Jobanputra, Vaidehi, Perry, Denise L., Bick, David, Taft, Ryan J., Venner, Eric, Gibbs, Richard A., Young, Ted, Barnett, Sarah, Belmont, John W., Boczek, Nicole, Chowdhury, Shimul, Ellsworth, Katarzyna A., Guha, Saurav, Kulkarni, Shashikant, Marcou, Cherisse, Meng, Linyan, Murdock, David R., Rehman, Atteeq U., Spiteri, Elizabeth, Thomas-Wilson, Amanda, Kearney, Hutton M., and Rehm, Heidi L.

Published
2022
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12. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Author

McDonagh, Ellen M, Rueda, Antonio, Polychronopoulos, Dimitris, Chan, Georgia, Angus-Leppan, Heather, Bhatia, Kailash P, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, McEntagart, Meriel, Menzies, Lara, Morris, Huw, Reilly, Mary M, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Warner, Thomas T, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Labrum, Robyn, Twiss, Philip, Abbs, Stephen, Santos, Liana, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Patch, Christine, Taylor Tavares, Ana Lisa, Hyder, Zerin, Need, Anna, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Chawla, Aditi, Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Douglas, Angela, Wilson, Gill, Ellard, Sian, Temple, I Karen, Mumford, Andrew, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Chitty, Lyn S, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.H., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, and Tucci, Arianna

Published
2022
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13. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Author

Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M, Baratang, Nissan V, Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A, Laniewski, Stephanie C, Jones, Julie, Iglesias, Alejandro D, Jones, Marilyn C, Masser-Frye, Diane, Scheuerle, Angela E, Perry, Denise L, Taft, Ryan J, Le Deist, Françoise, Thompson, Miles, Kinoshita, Taroh, and Campeau, Philippe M

Subjects
Neurodegenerative, Congenital Structural Anomalies, Pediatric, Brain Disorders, Rare Diseases, Genetics, Human Genome, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Acyltransferases, Arthrogryposis, Cell Line, Cerebellar Ataxia, Child, Child, Preschool, Developmental Disabilities, Epilepsy, Generalized, Female, HEK293 Cells, Humans, Intellectual Disability, Male, Muscle Hypotonia, Mutation, Nervous System Malformations, Pedigree, Seizures, Syndrome, Whole Exome Sequencing, Exome Sequencing, PIGS, epilepsy, glycosylphosphatidylinositol, glycosylphosphatidylinositol biosynthesis defect, inherited GPI deficiency, seizures, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result of advances in whole-exome sequencing (WES) and whole-genome sequencing (WGS). IGDs cause a series of overlapping phenotypes consisting of seizures, dysmorphic features, multiple congenital malformations, and severe intellectual disability. We present a study of six individuals from three unrelated families in which WES or WGS identified bi-allelic phosphatidylinositol glycan class S (PIGS) biosynthesis mutations. Phenotypes included severe global developmental delay, seizures (partly responding to pyridoxine), hypotonia, weakness, ataxia, and dysmorphic facial features. Two of them had compound-heterozygous variants c.108G>A (p.Trp36∗) and c.101T>C (p.Leu34Pro), and two siblings of another family were homozygous for a deletion and insertion leading to p.Thr439_Lys451delinsArgLeuLeu. The third family had two fetuses with multiple joint contractures consistent with fetal akinesia. They were compound heterozygous for c.923A>G (p.Glu308Gly) and c.468+1G>C, a splicing mutation. Flow-cytometry analyses demonstrated that the individuals with PIGS mutations show a GPI-AP deficiency profile. Expression of the p.Trp36∗ variant in PIGS-deficient HEK293 cells revealed only partial restoration of cell-surface GPI-APs. In terms of both biochemistry and phenotype, loss of function of PIGS shares features with PIGT deficiency and other IGDs. This study contributes to the understanding of the GPI-AP biosynthesis pathway by describing the consequences of PIGS disruption in humans and extending the family of IGDs.

Published
2018

14. Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)

Author

Hirabayashi, Kristin E, Moore, Anthony T, Mendelsohn, Bryce A, Taft, Ryan J, Chawla, Aditi, Perry, Denise, Henry, Duncan, and Slavotinek, Anne

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Genetics, Eye Disease and Disorders of Vision, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Eye, Alleles, Amino Acid Substitution, Coloboma, DNA Mutational Analysis, Diarrhea, Facies, Genetic Association Studies, Humans, Infant, Male, Membrane Glycoproteins, Mutation, Ophthalmoscopes, Optic Nerve, Phenotype, Whole Genome Sequencing, coloboma, congenital sodium diarrhea, congenital tufting enteropathy, corneal erosions, eye findings with SPINT2, keratitis, ocular findings with SPINT2, SPINT2, Clinical Sciences, Clinical sciences
Abstract

Congenital sodium diarrhea is a rare and life-threatening disorder characterized by a severe, secretory diarrhea containing high concentrations of sodium, leading to hyponatremia and metabolic acidosis. It may occur in isolation or in association with systemic features such as facial dysmorphism, choanal atresia, imperforate anus, and corneal erosions. Mutations in the serine protease inhibitor, Kunitz-Type 2 (SPINT2) gene have been associated with congenital sodium diarrhea and additional syndromic features. We present a child with congenital sodium diarrhea, cleft lip and palate, corneal erosions, optic nerve coloboma, and intermittent exotropia who was found to have biallelic mutations in SPINT2. One mutation, c.488A > G, predicting p.(Tyr163Cys), has been previously associated with a syndromic form of congenital sodium diarrhea. The other mutation, c.166_167dupTA, predicting p.(Asn57Thrfs*24) has not previously been reported and is likely a novel pathogenic variant for this disorder. We found only one other report of an optic nerve coloboma associated with SPINT2 mutations and this occurred in a patient with congenital tufting enteropathy. Our patient confirms an association of ocular coloboma with presumed loss of SPINT2 function.

Published
2018

15. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Author

Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Vermeulen, R. Jeroen, Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, and Thorburn, David R.

Published
2021
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19. TUBB4A de novo mutations cause isolated hypomyelination

Author

Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J, van der Knaap, Marjo S, Bernard, Geneviève, Schiffmann, Raphael, Simons, Cas, and Vanderver, Adeline

Subjects
Pediatric, Congenital Structural Anomalies, Neurosciences, Brain Disorders, Genetics, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Atrophy, Basal Ganglia, Cerebellum, Child, Child, Preschool, Exome, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Phenotype, Registries, Tubulin, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveWe present a series of unrelated patients with isolated hypomyelination, with or without mild cerebellar atrophy, and de novo TUBB4A mutations.MethodsPatients in 2 large institutional review board-approved leukodystrophy bioregistries at Children's National Medical Center and Montreal Children's Hospital with similar MRI features had whole-exome sequencing performed. MRIs and clinical information were reviewed.ResultsFive patients who presented with hypomyelination without the classic basal ganglia abnormalities were found to have novel TUBB4A mutations through whole-exome sequencing. Clinical and imaging characteristics were reviewed suggesting a spectrum of clinical manifestations.ConclusionHypomyelinating leukodystrophies remain a diagnostic challenge with a large percentage of unresolved cases. This finding expands the phenotype of TUBB4A-related hypomyelinating conditions beyond hypomyelination with atrophy of the basal ganglia and cerebellum. TUBB4A mutation screening should be considered in cases of isolated hypomyelination or hypomyelination with nonspecific cerebellar atrophy.

Published
2014

20. Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.

Author

Chandrasekhar, Anjana, Mroczkowski, Henry J., Urraca, Nora, Gross, Andrew, Bluske, Krista, Thorpe, Erin, Hagelstrom, R. Tanner, Schonberg, Steven A., Perry, Denise L., Taft, Ryan J., and Kesari, Akanchha

Abstract

We describe a family with two maternal half‐brothers both of whom presented with muscular dystrophy, autism spectrum disorder, developmental delay, and sensorineural hearing loss. The elder brother had onset of features at ~3 months of age, followed by clinical confirmation of muscular dystrophy at 3 years. Skeletal biopsy staining at 4.7 years showed an absence of dystrophin protein which prompted extensive molecular testing over 4 years that included gene panels, targeted single‐gene assays, arrays, and karyotyping, all of which failed to identify a clinically significant variant in the DMD gene. At 10 years of age, clinical whole‐genome sequencing (cWGS) was performed, which revealed a novel hemizygous ~50.7 Mb balanced pericentric inversion on chromosome X that disrupts the DMD gene in both siblings, consistent with the muscular dystrophy phenotype. This inversion also impacts the upstream regulatory region of POU3F4, structural rearrangements which are known to cause hearing loss. The unaffected mother is a heterozygous carrier for the pericentric inversion. This finding illustrates the ability of cWGS to detect a wide breadth of disease‐causing genomic variations including large genomic rearrangements. [ABSTRACT FROM AUTHOR]

Published
2024
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21. The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development

Author

Sajan, Samin A., primary, Brown, Carolyn M., additional, Davis‐Keppen, Laura, additional, Burns, Kaitlyn, additional, Royer, Erin, additional, Coleman, Jessica A. Cooley, additional, Hilton, Benjamin A., additional, DuPont, Barbara R., additional, Perry, Denise L., additional, Taft, Ryan J., additional, and Kesari, Akanchha, additional

Published
2023
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23. Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum

Author

Emrick, Lisa T., Rosenfeld, Jill A., Lalani, Seema R., Jain, Mahim, Desai, Nilesh K., Larson, Austin, Kripps, Kimberly, Vanderver, Adeline, Taft, Ryan J., Bluske, Krista, Perry, Denise, Nagakura, Honey, Immken, LaDonna L., Burrage, Lindsay C., Bacino, Carlos A., Belmont, John W., Network, Undiagnosed Diseases, and Lee, Brendan

Published
2019
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24. ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Author

Dolzhenko, Egor, Bennett, Mark F., Richmond, Phillip A., Trost, Brett, Chen, Sai, van Vugt, Joke J. F. A., Nguyen, Charlotte, Narzisi, Giuseppe, Gainullin, Vladimir G., Gross, Andrew M., Lajoie, Bryan R., Taft, Ryan J., Wasserman, Wyeth W., Scherer, Stephen W., Veldink, Jan H., Bentley, David R., Yuen, Ryan K. C., Bahlo, Melanie, and Eberle, Michael A.

Published
2020
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26. Supplementary Figures 1 - 5 from MicroRNAs Regulate Tumor Angiogenesis Modulated by Endothelial Progenitor Cells

Author

Plummer, Prue N., primary, Freeman, Ruth, primary, Taft, Ryan J., primary, Vider, Jelena, primary, Sax, Michael, primary, Umer, Brittany A., primary, Gao, Dingcheng, primary, Johns, Christopher, primary, Mattick, John S., primary, Wilton, Stephen D., primary, Ferro, Vito, primary, McMillan, Nigel A.J., primary, Swarbrick, Alexander, primary, Mittal, Vivek, primary, and Mellick, Albert S., primary

Published
2023
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27. Supplementary Methods and Figure Legend from MicroRNAs Regulate Tumor Angiogenesis Modulated by Endothelial Progenitor Cells

Author

Plummer, Prue N., primary, Freeman, Ruth, primary, Taft, Ryan J., primary, Vider, Jelena, primary, Sax, Michael, primary, Umer, Brittany A., primary, Gao, Dingcheng, primary, Johns, Christopher, primary, Mattick, John S., primary, Wilton, Stephen D., primary, Ferro, Vito, primary, McMillan, Nigel A.J., primary, Swarbrick, Alexander, primary, Mittal, Vivek, primary, and Mellick, Albert S., primary

Published
2023
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28. Data from MicroRNAs Regulate Tumor Angiogenesis Modulated by Endothelial Progenitor Cells

Author

Plummer, Prue N., primary, Freeman, Ruth, primary, Taft, Ryan J., primary, Vider, Jelena, primary, Sax, Michael, primary, Umer, Brittany A., primary, Gao, Dingcheng, primary, Johns, Christopher, primary, Mattick, John S., primary, Wilton, Stephen D., primary, Ferro, Vito, primary, McMillan, Nigel A.J., primary, Swarbrick, Alexander, primary, Mittal, Vivek, primary, and Mellick, Albert S., primary

Published
2023
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29. Supplementary Figures 9 - 10 from MicroRNAs Regulate Tumor Angiogenesis Modulated by Endothelial Progenitor Cells

Author

Plummer, Prue N., primary, Freeman, Ruth, primary, Taft, Ryan J., primary, Vider, Jelena, primary, Sax, Michael, primary, Umer, Brittany A., primary, Gao, Dingcheng, primary, Johns, Christopher, primary, Mattick, John S., primary, Wilton, Stephen D., primary, Ferro, Vito, primary, McMillan, Nigel A.J., primary, Swarbrick, Alexander, primary, Mittal, Vivek, primary, and Mellick, Albert S., primary

Published
2023
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30. Supplementary Figure 11 from MicroRNAs Regulate Tumor Angiogenesis Modulated by Endothelial Progenitor Cells

Author

Plummer, Prue N., primary, Freeman, Ruth, primary, Taft, Ryan J., primary, Vider, Jelena, primary, Sax, Michael, primary, Umer, Brittany A., primary, Gao, Dingcheng, primary, Johns, Christopher, primary, Mattick, John S., primary, Wilton, Stephen D., primary, Ferro, Vito, primary, McMillan, Nigel A.J., primary, Swarbrick, Alexander, primary, Mittal, Vivek, primary, and Mellick, Albert S., primary

Published
2023
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31. Supplementary Figures 6 - 8 from MicroRNAs Regulate Tumor Angiogenesis Modulated by Endothelial Progenitor Cells

Author

Plummer, Prue N., primary, Freeman, Ruth, primary, Taft, Ryan J., primary, Vider, Jelena, primary, Sax, Michael, primary, Umer, Brittany A., primary, Gao, Dingcheng, primary, Johns, Christopher, primary, Mattick, John S., primary, Wilton, Stephen D., primary, Ferro, Vito, primary, McMillan, Nigel A.J., primary, Swarbrick, Alexander, primary, Mittal, Vivek, primary, and Mellick, Albert S., primary

Published
2023
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32. Supplementary Tables 1 - 8 from MicroRNAs Regulate Tumor Angiogenesis Modulated by Endothelial Progenitor Cells

Author

Plummer, Prue N., primary, Freeman, Ruth, primary, Taft, Ryan J., primary, Vider, Jelena, primary, Sax, Michael, primary, Umer, Brittany A., primary, Gao, Dingcheng, primary, Johns, Christopher, primary, Mattick, John S., primary, Wilton, Stephen D., primary, Ferro, Vito, primary, McMillan, Nigel A.J., primary, Swarbrick, Alexander, primary, Mittal, Vivek, primary, and Mellick, Albert S., primary

Published
2023
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33. Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Author

Clause, Amanda R., primary, Taylor, Julie P., additional, Rajkumar, Revathi, additional, Bluske, Krista, additional, Bennett, Maren, additional, Amendola, Laura M., additional, Bentley, David R., additional, Taft, Ryan J., additional, Perry, Denise L., additional, Coffey, Alison J., additional, Brown, Carolyn, additional, Brown, Matthew P., additional, Buchanan, Amanda, additional, Burns, Brendan, additional, Burns, Nicole J., additional, Chandrasekhar, Anjana, additional, Chawla, Aditi, additional, Golden-Grant, Katie, additional, Kesari, Akanchha, additional, Malhotra, Alka, additional, Milewski, Becky, additional, Sajan, Samin A., additional, Schlachetzki, Zinayida, additional, Schmidt, Sarah, additional, Thomas, Brittany, additional, and Thorpe, Erin, additional

Published
2023
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34. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Author

van der Knaap, Marjo S., Bugiani, Marianna, Mendes, Marisa I., Riley, Lisa G., Smith, Desiree E.C., Rudinger-Thirion, Joëlle, Frugier, Magali, Breur, Marjolein, Crawford, Joanna, van Gaalen, Judith, Schouten, Meyke, Willems, Marjolaine, Waisfisz, Quinten, Mau-Them, Frederic Tran, Rodenburg, Richard J., Taft, Ryan J., Keren, Boris, Christodoulou, John, Depienne, Christel, Simons, Cas, Salomons, Gajja S., and Mochel, Fanny

Published
2019
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36. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Author

Miyake, Noriko, Wolf, Nicole I., Cayami, Ferdy K., Crawford, Joanna, Bley, Annette, Bulas, Dorothy, Conant, Alex, Bent, Stephen J., Gripp, Karen W., Hahn, Andreas, Humphray, Sean, Kimura-Ohba, Shihoko, Kingsbury, Zoya, Lajoie, Bryan R., Lal, Dennis, Micha, Dimitra, Pizzino, Amy, Sinke, Richard J., Sival, Deborah, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Ulrick, Nicole, Taft, Ryan J., Ogata, Tsutomu, Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas, and Vanderver, Adeline

Published
2017
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38. Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Author

Brown, Carolyn, Brown, Matthew P., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Golden-Grant, Katie, Kesari, Akanchha, Malhotra, Alka, Milewski, Becky, Sajan, Samin A., Schlachetzki, Zinayida, Schmidt, Sarah, Thomas, Brittany, Thorpe, Erin, Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Bentley, David R., Taft, Ryan J., Perry, Denise L., and Coffey, Alison J.

Published
2023
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39. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Author

Rehm, Heidi L, primary, Alaimo, Joseph T, additional, Aradhya, Swaroop, additional, Bayrak-Toydemir, Pinar, additional, Best, Hunter, additional, Brandon, Rhonda, additional, Buchan, Jillian G, additional, Chao, Elizabeth C, additional, Chen, Elaine, additional, Clifford, Jacob, additional, Cohen, Ana S, additional, Conlin, Laura K, additional, Das, Soma, additional, Davis, Kyle W, additional, Gaudio, Daniela del, additional, Viso, Florencia Del, additional, DiVincenzo, Christina, additional, Eisenberg, Marcia, additional, Guidugli, Lucia, additional, Hammer, Monia B, additional, Harrison, Steven M, additional, Hatchell, Kathryn E, additional, Dyer, Lindsay Havens, additional, Hoang, Lily U, additional, Holt, James M, additional, Jobanputra, Vaidehi, additional, Karbassi, Izabela D, additional, Kearney, Hutton M, additional, Kelly, Melissa A, additional, Kelly, Jacob M, additional, Kluge, Michelle L, additional, Komala, Timothy, additional, Kruszka, Paul, additional, Lau, Lynette, additional, Lebo, Matthew S, additional, Marshall, Christian R, additional, McKnight, Dianalee, additional, McWalter, Kirsty, additional, Meng, Yan, additional, Nagan, Narasimhan, additional, Neckelmann, Christian S, additional, Neerman, Nir, additional, Niu, Zhiyv, additional, Paolillo, Vitoria K, additional, Paolucci, Sarah A, additional, Perry, Denise, additional, Pesaran, Tina, additional, Radtke, Kelly, additional, Rasmussen, Kristen J, additional, Retterer, Kyle, additional, Saunders, Carol J, additional, Spiteri, Elizabeth, additional, Stanley, Christine M, additional, Szuto, Anna, additional, Taft, Ryan J, additional, Thiffault, Isabelle, additional, Thomas, Brittany C, additional, Thomas-Wilson, Amanda, additional, Thorpe, Erin, additional, Tidwell, Timothy J, additional, Towne, Meghan C, additional, and Zouk, Hana, additional

Published
2022
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40. HeterozygousNOTCH1Variants Cause CNS Immune Activation and Microangiopathy

Author

Helman, Guy, primary, Zarekiani, Parand, additional, Tromp, Samantha A.M., additional, Andrews, Ashley, additional, Botto, Lorenzo D., additional, Bonkowsky, Joshua L., additional, Chassevent, Anna, additional, Giorgio, Elisa, additional, Pippucci, Tommaso, additional, Wei, Shen, additional, Smith‐Hicks, Constance, additional, Vaula, Giovanna, additional, Willemsen, Michèl A.A.P, additional, Schimmel, Mareike, additional, Vollert, Kurt, additional, Shimizu, Fumitaka, additional, Kanda, Takashi, additional, Lynch, Matthew, additional, Roscioli, Tony, additional, Taft, Ryan J., additional, Simons, Cas, additional, Bugiani, Marianna, additional, Kuijpers, Taco W., additional, and van der Knaap, Marjo S., additional

Published
2022
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41. Inactivation of AMMECR1 is associated with growth, bone, and heart alterations

Author

Moysés‐Oliveira, Mariana, Giannuzzi, Giuliana, Fish, Richard J., Rosenfeld, Jill A., Petit, Florence, Soares, Maria de Fatima, Kulikowski, Leslie Domenici, Di‐Battista, Adriana, Zamariolli, Malú, Xia, Fan, Liehr, Thomas, Kosyakova, Nadezda, Carvalheira, Gianna, Parker, Michael, Seaby, Eleanor G., Ennis, Sarah, Gilbert, Rodney D., Hagelstrom, R. Tanner, Cremona, Maria L., Li, Wenhui L., Malhotra, Alka, Chandrasekhar, Anjana, Perry, Denise L., Taft, Ryan J., McCarrier, Julie, Basel, Donald G., Andrieux, Joris, Stumpp, Taiza, Antunes, Fernanda, Pereira, Gustavo José, Neerman‐Arbez, Marguerite, Meloni, Vera Ayres, Drummond‐Borg, Margaret, Melaragno, Maria Isabel, and Reymond, Alexandre

Published
2018
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43. PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing

Author

Makay, Prince, primary, Mubungu, Gerrye, additional, Mupuala, Aimée, additional, Bluske, Krista, additional, Brown, Carolyn, additional, Schmidt, Sarah A., additional, Ngole, Mamy, additional, Fuanani, Patrick, additional, Perry, Denise L., additional, Lukusa, Prosper, additional, Devriendt, Koenraad, additional, Taft, Ryan J., additional, and Lumaka, Aimé, additional

Published
2022
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46. A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships

Author

Taylor, Julie P., primary, Malhotra, Alka, additional, Burns, Nicole J., additional, Clause, Amanda R., additional, Brown, Carolyn M., additional, Burns, Brendan T., additional, Chandrasekhar, Anjana, additional, Schlachetzki, Zinayida, additional, Bennett, Maren, additional, Thorpe, Erin, additional, Taft, Ryan J., additional, Perry, Denise L., additional, and Coffey, Alison J., additional

Published
2022
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47. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Author

Ibañez, Kristina, primary, Polke, James, additional, Hagelstrom, R Tanner, additional, Dolzhenko, Egor, additional, Pasko, Dorota, additional, Thomas, Ellen Rachel Amy, additional, Daugherty, Louise C, additional, Kasperaviciute, Dalia, additional, Smith, Katherine R, additional, Deans, Zandra C, additional, Hill, Sue, additional, Fowler, Tom, additional, Scott, Richard H, additional, Hardy, John, additional, Chinnery, Patrick F, additional, Houlden, Henry, additional, Rendon, Augusto, additional, Caulfield, Mark J, additional, Eberle, Michael A, additional, Taft, Ryan J, additional, Tucci, Arianna, additional, McDonagh, Ellen M, additional, Rueda, Antonio, additional, Polychronopoulos, Dimitris, additional, Chan, Georgia, additional, Angus-Leppan, Heather, additional, Bhatia, Kailash P, additional, Davison, James E, additional, Festenstein, Richard, additional, Fratta, Pietro, additional, Giunti, Paola, additional, Howard, Robin, additional, Venkata, Laxmi, additional, Laurá, Matilde, additional, McEntagart, Meriel, additional, Menzies, Lara, additional, Morris, Huw, additional, Reilly, Mary M, additional, Robinson, Robert, additional, Rosser, Elisabeth, additional, Faravelli, Francesca, additional, Schrag, Anette, additional, Schott, Jonathan M, additional, Warner, Thomas T, additional, Wood, Nicholas W, additional, Bourn, David, additional, Eggleton, Kelly, additional, Labrum, Robyn, additional, Twiss, Philip, additional, Abbs, Stephen, additional, Santos, Liana, additional, Almheiri, Ghareesa, additional, Sheikh, Isabella, additional, Vandrovcova, Jana, additional, Patch, Christine, additional, Taylor Tavares, Ana Lisa, additional, Hyder, Zerin, additional, Need, Anna, additional, Brittain, Helen, additional, Baple, Emma, additional, Moutsianas, Loukas, additional, Deshpande, Viraj, additional, Perry, Denise L, additional, Ajay, Subramanian S., additional, Chawla, Aditi, additional, Rajan, Vani, additional, Oprych, Kathryn, additional, Douglas, Angela, additional, Wilson, Gill, additional, Ellard, Sian, additional, Temple, I Karen, additional, Mumford, Andrew, additional, McMullan, Dom, additional, Naresh, Kikkeri, additional, Flinter, Frances A, additional, Taylor, Jenny C, additional, Greenhalgh, Lynn, additional, Newman, William, additional, Brennan, Paul, additional, Sayer, John A, additional, Raymond, F Lucy, additional, Chitty, Lyn S, additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boissiere, Jeanne M., additional, Boustred, Christopher R., additional, Craig, Clare E.H., additional, de Burca, Anna, additional, Devereau, Andrew, additional, Elgar, Greg, additional, Foulger, Rebecca E., additional, Furió-Tarí, Pedro, additional, Hackett, Joanne, additional, Halai, Dina, additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Holman, James, additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kayikci, Melis, additional, Lahnstein, Lea, additional, Lawson, Kay, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, Mason, Joanne, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Odhams, Chris A., additional, Perez-Gil, Daniel, additional, Pullinger, John, additional, Rahim, Tahrima, additional, Riesgo-Ferreiro, Pablo, additional, Rogers, Tim, additional, Ryten, Mina, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smedley, Damian, additional, Sosinsky, Alona, additional, Spooner, William, additional, Stevens, Helen E., additional, Stuckey, Alexander, additional, Sultana, Razvan, additional, Thompson, Simon R., additional, Tregidgo, Carolyn, additional, Walsh, Emma, additional, Watters, Sarah A., additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, Wood, Suzanne M., additional, and Zarowiecki, Magdalena, additional

Published
2022
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48. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome

Author

Dohrn, Maike F., primary, Rebelo, Adriana P., additional, Srivastava, Siddharth, additional, Cappuccio, Gerarda, additional, Smigiel, Robert, additional, Malhotra, Alka, additional, Basel, Donald, additional, van de Laar, Ingrid, additional, Neuteboom, Rinze Frederik, additional, Aarts-Tesselaar, Coranne, additional, Mahida, Sonal, additional, Brunetti-Pierri, Nicola, additional, Taft, Ryan J., additional, and Züchner, Stephan, additional

Published
2022
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50. Whole Exome Sequencing in Patients with White Matter Abnormalities

Author

Vanderver, Adeline, Simons, Cas, Helman, Guy, Crawford, Joanna, Wolf, Nicole I., Bernard, Geneviève, Pizzino, Amy, Schmidt, Johanna L., Takanohashi, Asako, Miller, David, Khouzam, Amirah, Rajan, Vani, Ramos, Erica, Chowdhury, Shimul, Hambuch, Tina, Ru, Kelin, Baillie, Gregory J., Grimmond, Sean M., Caldovic, Ljubica, Devaney, Joseph, Bloom, Miriam, Evans, Sarah H., Murphy, Jennifer L. P., McNeill, Nathan, Fogel, Brent L., Schiffmann, Raphael, van der Knaap, Marjo S., and Taft, Ryan J.

Published
2016
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