Dobyns, William B.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., et al. (2012) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 741

Recurrent 16p11.2 microdeletions in autism

Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 731

G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Piao, X., Hill, R. S., Bodell, A., Chang, B. S., Basel-Vanagaite, L., Straussberg, R., Dobyns, W. B., Qasrawi, B., Winter, R. M., Innes, A. M., et al. (2004) · Science

Fetal and Pediatric Neurological DisordersNeurogenesis and neuroplasticity mechanisms

Cited by 517

Malformations of cortical development: clinical features and genetic causes

Guerrini, R., & Dobyns, W. B. (2014) · The Lancet Neurology

Fetal and Pediatric Neurological DisordersEpilepsy research and treatment

Cited by 513

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Jansen, L. A., Mirzaa, G. M., Ishak, G. E., O'Roak, B. J., Hiatt, J. B., Roden, W. H., Gunter, S. A., Christian, S. L., Collins, S., Adams, C., et al. (2015) · Brain

Fetal and Pediatric Neurological DisordersEpilepsy research and treatment

Cited by 364

SRD5A3 Is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., et al. (2010) · Cell

Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus

Cited by 309

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.

Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., Liu, S., Karamohamed, S., Badner, J. A., Matsui, S., Conroy, J., McQuaid, D., et al. (2008) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 299

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

Grinberg, I., Northrup, H., Ardinger, H., Prasad, C., Dobyns, W. B., & Millen, K. J. (2004) · Nature Genetics

Fetal and Pediatric Neurological DisordersSpinal Dysraphism and Malformations

Cited by 246

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

Kelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics

Metabolism and Genetic DisordersGenetic and rare skin diseases.

Cited by 219

Early-life epilepsies and the emerging role of genetic testing

Berg, A. T., Coryell, J., Saneto, R. P., Grinspan, Z. M., Alexander, J. J., Kekis, M., Sullivan, J. E., Wirrell, E. C., Shellhaas, R. A., Mytinger, J. R., et al. (2017) · JAMA Pediatrics

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 156

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., McEntagart, M., Abdel-Salam, G., Zaki, M., Wolf, N. I., et al. (2010) · The American Journal of Human Genetics

Fetal and Pediatric Neurological DisordersBarrier Structure and Function Studies

Cited by 145

Phenotypic spectrum associated with CASK loss-of-function mutations

Moog, U., Kutsche, K., Kortüm, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., et al. (2011) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 135

Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence

Fischer, M., Ryan, S. B., & Dobyns, W. B. (1992) · Archives of Neurology

Hemispheric Asymmetry in NeuroscienceFetal and Pediatric Neurological Disorders

Cited by 110

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Paciorkowski, A. R., Traylor, R. N., Rosenfeld, J. A., Hoover, J. M., Harris, C. J., Winter, S., Lacassie, Y., Bialer, M., Lamb, A. N., Schultz, R. A., et al. (2013) · neurogenetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 109

Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity

Roth, C. L., Eslamy, H., Werny, D., Elfers, C., Shaffer, M. L., Pihoker, C., Ojemann, J., & Dobyns, W. B. (2015) · Obesity

Pituitary Gland Disorders and TreatmentsRegulation of Appetite and Obesity

Cited by 96

Association and mutation analyses of 16p11.2 autism candidate genes

Kumar, R. A., Marshall, C. R., Badner, J. A., Babatz, T. D., Mukamel, Z., Aldinger, K. A., Sudi, J., Brune, C. W., Goh, G., KaraMohamed, S., et al. (2009) · PLoS ONE

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 95

NFIB haploinsufficiency is associated with intellectual disability and macrocephaly

Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 63

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

Pirozzi, F., Berkseth, M., Shear, R., Gonzalez, L., Timms, A. E., Sulc, J., Pao, E., Oyama, N., Forzano, F., Conti, V., et al. (2022) · Brain

Fetal and Pediatric Neurological DisordersEpilepsy research and treatment

Cited by 54

Copy number and sequence variants implicate APBA2 as an autism candidate gene

Babatz, T. D., Kumar, R. A., Sudi, J., Dobyns, W. B., & Christian, S. L. (2009) · Autism Research

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 40

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Akula, S. K., Chen, A. Y., Neil, J. E., Shao, D. D., Mo, A., Hylton, N. K., DiTroia, S., Ganesh, V. S., Smith, R. S., O’Kane, K., et al. (2023) · JAMA Neurology

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 37

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

Muir, A. M., Gardner, J. F., van Jaarsveld, R. H., de Lange, I. M., van der Smagt, J. J., Wilson, G. N., Dubbs, H., Goldberg, E. M., Zitano, L., Bupp, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 35

Neuropathology of brain and spinal malformations in a case of monosomy 1p36

Shiba, N., Daza, R. A., Shaffer, L. G., Barkovich, A. J., Dobyns, W. B., & Hevner, R. F. (2013) · Acta Neuropathologica Communications

Genomic variations and chromosomal abnormalitiesFetal and Pediatric Neurological Disorders

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