Current Environment: Production

Medical Services

Programs & Services

Languages

  • English

Education

Undergraduate School

Bucknell University

1978, Lewisburg, PA

Graduate School

PhD, Neurobiology

University of Chicago

1983, Chicago, IL

Medical School

Pritzker School of Medicine, The University of Chicago

1985, Chicago, IL

Internship

Medicine

Massachusetts General Hospital

1985, Boston, MA

Residency

Neurology

Massachusetts General Hospital

1986, Boston, MA

Fellowship

Neurology and Genetics

Massachusetts General Hospital

1989, Boston, MA

Certifications

  • American Board of Psychiatry and Neurology (Neurology)

Publications

  1. Spatial transcriptomics reveals human cortical layer and area specification. Nature. 2025 May 14. View Abstract

  2. Advances in single-cell DNA sequencing enable insights into human somatic mosaicism. Nat Rev Genet. 2025 Apr 25. View Abstract

  3. Clinical and Neuropsychological Phenotyping of Individuals With Somatic Variants in Neurodevelopmental Disorders. Neurol Genet. 2025 Apr; 11(2):e200254. View Abstract

  4. FOS binding sites are a hub for the evolution of activity-dependent gene regulatory programs in human neurons. bioRxiv. 2025 Mar 31. View Abstract

  5. Human-chimpanzee tetraploid system defines mechanisms of species-specific neural gene regulation. bioRxiv. 2025 Mar 31. View Abstract

  6. ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. Brain. 2025 Mar 22. View Abstract

  7. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. Brain Commun. 2025; 7(2):fcaf113. View Abstract

  8. Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders. bioRxiv. 2025 Mar 08. View Abstract

  9. Biophysical basis for brain folding and misfolding patterns in ferrets and humans. bioRxiv. 2025 Mar 06. View Abstract

  10. Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy. bioRxiv. 2025 Mar 04. View Abstract

  11. Autism-Associated Genes and Neighboring lncRNAs Converge on Key Gene Regulatory Networks. bioRxiv. 2025 Jan 22. View Abstract

  12. Applying single-cell and single-nucleus genomics to studies of cellular heterogeneity and cell fate transitions in the nervous system. Nat Neurosci. 2024 Dec; 27(12):2278-2291. View Abstract

  13. Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. medRxiv. 2024 Nov 18. View Abstract

  14. Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. Science. 2024 10 11; 386(6718):217-224. View Abstract

  15. Conserved transcriptional regulation by BRN1 and BRN2 in neocortical progenitors drives mammalian neural specification and neocortical expansion. Nat Commun. 2024 Sep 14; 15(1):8043. View Abstract

  16. Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain. Am J Hum Genet. 2024 Aug 08; 111(8):1544-1558. View Abstract

  17. Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Hum Genet. 2024 Jul; 143(7):921-938. View Abstract

  18. Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease. Acta Neuropathol. 2024 Jul 24; 148(1):10. View Abstract

  19. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. medRxiv. 2024 Jul 22. View Abstract

  20. Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk. Cell Genom. 2024 Aug 14; 4(8):100609. View Abstract

  21. Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals. J Am Heart Assoc. 2024 Jul 16; 13(14):e033232. View Abstract

  22. Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease. bioRxiv. 2024 Jun 29. View Abstract

  23. Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements. medRxiv. 2024 Jun 19. View Abstract

  24. Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification. bioRxiv. 2024 Jun 10. View Abstract

  25. ARX regulates cortical interneuron differentiation and migration. bioRxiv. 2024 Jun 06. View Abstract

  26. Single-nucleus multi-omic profiling of polyploid heart nuclei identifies fusion-derived cardiomyocytes in the human heart. Res Sq. 2024 May 30. View Abstract

  27. Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain. bioRxiv. 2024 May 22. View Abstract

  28. BRN1/2 Function in Neocortical Size Determination and Microcephaly. bioRxiv. 2024 May 15. View Abstract

  29. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. View Abstract

  30. Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes. Cell. 2024 Apr 11; 187(8):1955-1970.e23. View Abstract

  31. Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia. Front Genet. 2023; 14:1294214. View Abstract

  32. Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia. bioRxiv. 2024 Jan 04. View Abstract

  33. Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. Neurol Genet. 2024 Feb; 10(1):e200117. View Abstract

  34. Neurosurgery elucidates somatic mutations. Science. 2023 12 22; 382(6677):1360-1362. View Abstract

  35. Shaping the brain: The emergence of cortical structure and folding. Dev Cell. 2023 12 18; 58(24):2836-2849. View Abstract

  36. Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. bioRxiv. 2023 Dec 01. View Abstract

  37. An evolutionary perspective on complex neuropsychiatric disease. Neuron. 2024 Jan 03; 112(1):7-24. View Abstract

  38. Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex. bioRxiv. 2023 Nov 06. View Abstract

  39. Comparative transcriptomics reveals human-specific cortical features. Science. 2023 10 13; 382(6667):eade9516. View Abstract

  40. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. View Abstract

  41. Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci. 2023 Oct; 26(10):1833. View Abstract

  42. Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk. medRxiv. 2023 Sep 22. View Abstract

  43. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. JAMA Neurol. 2023 09 01; 80(9):980-988. View Abstract

  44. Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions. Cell Genom. 2023 Aug 09; 3(8):100356. View Abstract

  45. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Eur J Hum Genet. 2023 09; 31(9):1023-1031. View Abstract

  46. Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. JAMA Neurol. 2023 06 01; 80(6):578-587. View Abstract

  47. Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome. Proc Natl Acad Sci U S A. 2023 06 06; 120(23):e2300052120. View Abstract

  48. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 05 04; 110(5):774-789. View Abstract

  49. A neural stem cell paradigm of pediatric hydrocephalus. Cereb Cortex. 2023 04 04; 33(8):4262-4279. View Abstract

  50. A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. Clin Genet. 2023 07; 104(1):73-80. View Abstract

  51. TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system. Proc Natl Acad Sci U S A. 2023 01 24; 120(4):e2209964120. View Abstract

  52. Contrasting patterns of somatic mutations in neurons and glia reveal differential predisposition to disease in the aging human brain. bioRxiv. 2023 Jan 14. View Abstract

  53. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. Genet Med. 2023 01; 25(1):49-62. View Abstract

  54. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell. 2022 10 24; 57(20):2381-2396.e13. View Abstract

  55. Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders. Nat Commun. 2022 10 07; 13(1):5918. View Abstract

  56. Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements. Nat Genet. 2022 10; 54(10):1564-1571. View Abstract

  57. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 11; 24(11):2240-2248. View Abstract

  58. Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity. Nat Aging. 2022 08; 2(8):714-725. View Abstract

  59. Landscape of somatic mutations in aging human heart muscle cells. Nat Aging. 2022 08; 2(8):686-687. View Abstract

  60. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science. 2022 07 29; 377(6605):511-517. View Abstract

  61. ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. Ann Clin Transl Neurol. 2022 08; 9(8):1276-1288. View Abstract

  62. The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission. Epilepsia. 2022 08; 63(8):1899-1919. View Abstract

  63. Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nat Commun. 2022 06 10; 13(1):3243. View Abstract

  64. Somatic genomic changes in single Alzheimer's disease neurons. Nature. 2022 04; 604(7907):714-722. View Abstract

  65. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nat Neurosci. 2022 04; 25(4):458-473. View Abstract

  66. Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders. Nat Rev Neurosci. 2022 05; 23(5):275-286. View Abstract

  67. Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder. Am J Hum Genet. 2022 02 03; 109(2):345-360. View Abstract

  68. Brain ventricles as windows into brain development and disease. Neuron. 2022 01 05; 110(1):12-15. View Abstract

  69. Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med. 2022 02; 24(2):319-331. View Abstract

  70. Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. Mob DNA. 2021 Nov 27; 12(1):28. View Abstract

  71. Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions. Neuron. 2021 10 20; 109(20):3239-3251.e7. View Abstract

  72. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. Eur J Hum Genet. 2021 11; 29(11):1663-1668. View Abstract

  73. Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain. Cancer Discov. 2022 01; 12(1):172-185. View Abstract

  74. Application of single cell genomics to focal epilepsies: A call to action. Brain Pathol. 2021 07; 31(4):e12958. View Abstract

  75. Early role for a Na+,K+-ATPase (ATP1A3) in brain development. Proc Natl Acad Sci U S A. 2021 06 22; 118(25). View Abstract

  76. 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. Nat Commun. 2021 05 18; 12(1):2897. View Abstract

  77. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Am J Med Genet A. 2021 08; 185(8):2384-2390. View Abstract

  78. Brain Somatic Mutation in Aging and Alzheimer's Disease. Annu Rev Genomics Hum Genet. 2021 08 31; 22:239-256. View Abstract

  79. Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial. Epilepsia. 2021 06; 62(6):1416-1428. View Abstract

  80. Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci. 2021 Apr; 24(4):611. View Abstract

  81. Comprehensive identification of somatic nucleotide variants in human brain tissue. Genome Biol. 2021 03 29; 22(1):92. View Abstract

  82. Landmarks of human embryonic development inscribed in somatic mutations. Science. 2021 03 19; 371(6535):1249-1253. View Abstract

  83. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718. View Abstract

  84. MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations. BMC Med Genomics. 2021 Feb 12; 14(1):47. View Abstract

  85. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 06; 23(6):1158-1162. View Abstract

  86. Large mosaic copy number variations confer autism risk. Nat Neurosci. 2021 02; 24(2):197-203. View Abstract

  87. The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci. 2021 02; 24(2):176-185. View Abstract

  88. Somatic copy number variants in neuropsychiatric disorders. Curr Opin Genet Dev. 2021 06; 68:9-17. View Abstract

  89. The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets. Sci Rep. 2020 12 09; 10(1):21516. View Abstract

  90. Author Correction: Innovations present in the primate interneuron repertoire. Nature. 2020 Dec; 588(7837):E17. View Abstract

  91. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Abstract

  92. Innovations present in the primate interneuron repertoire. Nature. 2020 10; 586(7828):262-269. View Abstract

  93. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2020 Sep; 23(9):1176. View Abstract

  94. Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. Sci Rep. 2020 08 20; 10(1):14045. View Abstract

  95. APP gene copy number changes reflect exogenous contamination. Nature. 2020 08; 584(7821):E20-E28. View Abstract

  96. Jettison-MS of Nucleic Acid Species. J Am Soc Mass Spectrom. 2020 Jul 09. View Abstract

  97. Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain. Proc Natl Acad Sci U S A. 2020 06 23; 117(25):13886-13895. View Abstract

  98. PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. Clin Genet. 2020 07; 98(1):80-85. View Abstract

  99. Recent Advances in Understanding the Genetic Architecture of Autism. Annu Rev Genomics Hum Genet. 2020 08 31; 21:289-304. View Abstract

  100. Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genet Med. 2020 06; 22(6):1040-1050. View Abstract

  101. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. Neuron. 2020 04 22; 106(2):246-255.e6. View Abstract

  102. Ion Channel Functions in Early Brain Development. Trends Neurosci. 2020 02; 43(2):103-114. View Abstract

  103. Accurate detection of mosaic variants in sequencing data without matched controls. Nat Biotechnol. 2020 03; 38(3):314-319. View Abstract

  104. In Memoriam: Frederick Andermann, MD. Ann Neurol. 2020 Jan; 87(1):1-3. View Abstract

  105. Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356. View Abstract

  106. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 11 07; 105(5):1048-1056. View Abstract

  107. Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms. Hum Mol Genet. 2019 10 15; 28(R2):R197-R206. View Abstract

  108. Recessive gene disruptions in autism spectrum disorder. Nat Genet. 2019 07; 51(7):1092-1098. View Abstract

  109. SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL. J Cell Biol. 2019 07 01; 218(7):2185-2197. View Abstract

  110. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. Am J Hum Genet. 2019 06 06; 104(6):1073-1087. View Abstract

  111. Linked-read analysis identifies mutations in single-cell DNA-sequencing data. Nat Genet. 2019 04; 51(4):749-754. View Abstract

  112. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. Am J Med Genet B Neuropsychiatr Genet. 2018 12; 177(8):736-745. View Abstract

  113. Somatic mosaicism and neurodevelopmental disease. Nat Neurosci. 2018 11; 21(11):1504-1514. View Abstract

  114. Rainer W. Guillery and the genetic analysis of brain development. Eur J Neurosci. 2019 04; 49(7):900-908. View Abstract

  115. Genomic and phenotypic delineation of congenital microcephaly. Genet Med. 2019 03; 21(3):545-552. View Abstract

  116. Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. Neuron. 2018 09 05; 99(5):905-913.e7. View Abstract

  117. The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Cell Rep. 2018 07 24; 24(4):973-986.e8. View Abstract

  118. The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position. Neuron. 2018 07 11; 99(1):239-241. View Abstract

  119. Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions. Annu Rev Neurosci. 2018 07 08; 41:185-206. View Abstract

  120. The Genetics of Primary Microcephaly. Annu Rev Genomics Hum Genet. 2018 08 31; 19:177-200. View Abstract

  121. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281. View Abstract

  122. Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size. Nature. 2018 04; 556(7701):370-375. View Abstract

  123. PaSD-qc: quality control for single cell whole-genome sequencing data using power spectral density estimation. Nucleic Acids Res. 2018 02 28; 46(4):e20. View Abstract

  124. Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations. Am J Med Genet A. 2018 02; 176(2):337-350. View Abstract

  125. Cover Image, Volume 176A, Number 2, February 2018. Am J Med Genet A. 2018 Feb; 176(2):i. View Abstract

  126. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017 12 26; 21(13):3754-3766. View Abstract

  127. Aging and neurodegeneration are associated with increased mutations in single human neurons. Science. 2018 02 02; 359(6375):555-559. View Abstract

  128. Rare variant association test in family-based sequencing studies. Brief Bioinform. 2017 Nov 01; 18(6):954-961. View Abstract

  129. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224. View Abstract

  130. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res. 2017 08; 27(8):1323-1335. View Abstract

  131. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science. 2017 04 28; 356(6336). View Abstract

  132. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. View Abstract

  133. Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. Eur J Med Genet. 2017 May; 60(5):245-249. View Abstract

  134. Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits. Cereb Cortex. 2017 02 01; 27(2):1670-1685. View Abstract

  135. Building a lineage from single cells: genetic techniques for cell lineage tracking. Nat Rev Genet. 2017 04; 18(4):230-244. View Abstract

  136. A microRNA negative feedback loop downregulates vesicle transport and inhibits fear memory. Elife. 2016 12 21; 5. View Abstract

  137. Cerebral cortical neuron diversity and development at single-cell resolution. Curr Opin Neurobiol. 2017 02; 42:9-16. View Abstract

  138. Evolution of Osteocrin as an activity-regulated factor in the primate brain. Nature. 2016 11 10; 539(7628):242-247. View Abstract

  139. Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 2016 Nov 23; 92(4):813-828. View Abstract

  140. Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Cell. 2016 Oct 06; 167(2):341-354.e12. View Abstract

  141. Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex. Cell. 2016 Aug 25; 166(5):1147-1162.e15. View Abstract

  142. Resolving rates of mutation in the brain using single-neuron genomics. Elife. 2016 Feb 22; 5. View Abstract

  143. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 02; 88(5):910-917. View Abstract

  144. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. Am J Med Genet A. 2016 Feb; 170A(2):435-440. View Abstract

  145. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015 Oct 02; 350(6256):94-98. View Abstract

  146. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 2015 Sep 23; 87(6):1215-1233. View Abstract

  147. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Elife. 2015 Aug 22; 4. View Abstract

  148. A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly. Am J Med Genet A. 2015 Nov; 167A(11):2808-16. View Abstract

  149. Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am. 2015 Jun; 62(3):571-85. View Abstract

  150. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28; 84(17):1745-50. View Abstract

  151. Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex. Nat Neurosci. 2015 May; 18(5):637-46. View Abstract

  152. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. Genes Dev. 2015 Mar 01; 29(5):501-12. View Abstract

  153. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. View Abstract

  154. Genetic changes shaping the human brain. Dev Cell. 2015 Feb 23; 32(4):423-34. View Abstract

  155. Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2015 Feb 03; 10(4):645. View Abstract

  156. Cell lineage analysis in human brain using endogenous retroelements. Neuron. 2015 Jan 07; 85(1):49-59. View Abstract

  157. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014 Dec 17; 84(6):1240-57. View Abstract

  158. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13; 515(7526):209-15. View Abstract

  159. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biol Psychiatry. 2015 May 01; 77(9):775-84. View Abstract

  160. Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2014 Sep 11; 8(5):1280-9. View Abstract

  161. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. View Abstract

  162. CC2D1A regulates human intellectual and social function as well as NF-?B signaling homeostasis. Cell Rep. 2014 Aug 07; 8(3):647-55. View Abstract

  163. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014 Nov 01; 23(21):5781-92. View Abstract

  164. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Res. 2014 Jun; 7(3):355-62. View Abstract

  165. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 03; 94(4):547-58. View Abstract

  166. Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science. 2014 Feb 14; 343(6172):764-8. View Abstract

  167. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014 Jul 01; 23(13):3456-66. View Abstract

  168. The diverse genetic landscape of neurodevelopmental disorders. Annu Rev Genomics Hum Genet. 2014; 15:195-213. View Abstract

  169. SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec; 74(6):873-82. View Abstract

  170. Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 2014 Apr; 45(2):93-101. View Abstract

  171. Neuroscience. What are mini-brains? Science. 2013 Oct 11; 342(6155):200-1. View Abstract

  172. Peter Huttenlocher (1931-2013). Nature. 2013 Oct 10; 502(7470):172. View Abstract

  173. G-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivo. FEBS J. 2013 Dec; 280(23):6097-113. View Abstract

  174. New innovations: therapeutic opportunities for intellectual disabilities. Ann Neurol. 2013 Sep; 74(3):382-90. View Abstract

  175. Somatic mutation, genomic variation, and neurological disease. Science. 2013 Jul 05; 341(6141):1237758. View Abstract

  176. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biol Psychiatry. 2013 Oct 15; 74(8):576-84. View Abstract

  177. Isolation of cerebrospinal fluid from rodent embryos for use with dissected cerebral cortical explants. J Vis Exp. 2013 Mar 11; (73):e50333. View Abstract

  178. Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Hum Mutat. 2013 Mar; 34(3):498-505. View Abstract

  179. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Mar 07; 92(3):354-65. View Abstract

  180. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. View Abstract

  181. Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol. 2013 Feb; 28(2):198-203. View Abstract

  182. Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. Cell. 2012 Nov 21; 151(5):1097-112. View Abstract

  183. Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell. 2012 Oct 26; 151(3):483-96. View Abstract

  184. Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism. 2012 Oct 15; 3(1):9. View Abstract

  185. Genetic causes of microcephaly and lessons for neuronal development. Wiley Interdiscip Rev Dev Biol. 2013 Jul; 2(4):461-78. View Abstract

  186. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov; 44(11):1260-4. View Abstract

  187. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 07; 91(3):541-7. View Abstract

  188. Small molecule-mediated TGF-ß type II receptor degradation promotes cardiomyogenesis in embryonic stem cells. Cell Stem Cell. 2012 Aug 03; 11(2):242-52. View Abstract

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