Christopher Walsh

Publications

1. 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
2. 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
3. Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. Science. 2024 Oct 11; 386(6718):217-224. View Abstract
4. 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
5. 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
6. Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Hum Genet. 2024 Jul; 143(7):921-938. View Abstract
7. Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease. Acta Neuropathol. 2024 Jul 24; 148(1):10. View Abstract
8. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. medRxiv. 2024 Jul 22. View Abstract
9. 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
10. 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
11. Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease. bioRxiv. 2024 Jun 29. View Abstract
12. Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements. medRxiv. 2024 Jun 19. View Abstract
13. Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification. bioRxiv. 2024 Jun 10. View Abstract
14. ARX regulates cortical interneuron differentiation and migration. bioRxiv. 2024 Jun 06. View Abstract
15. Single-nucleus multi-omic profiling of polyploid heart nuclei identifies fusion-derived cardiomyocytes in the human heart. Res Sq. 2024 May 30. View Abstract
16. Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain. bioRxiv. 2024 May 22. View Abstract
17. BRN1/2 Function in Neocortical Size Determination and Microcephaly. bioRxiv. 2024 May 15. View Abstract
18. 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
19. Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes. Cell. 2024 Apr 11; 187(8):1955-1970.e23. View Abstract
20. Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia. Front Genet. 2023; 14:1294214. View Abstract
21. Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia. bioRxiv. 2024 Jan 04. View Abstract
22. Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. Neurol Genet. 2024 Feb; 10(1):e200117. View Abstract
23. Neurosurgery elucidates somatic mutations. Science. 2023 12 22; 382(6677):1360-1362. View Abstract
24. Shaping the brain: The emergence of cortical structure and folding. Dev Cell. 2023 Dec 18; 58(24):2836-2849. View Abstract
25. Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. bioRxiv. 2023 Dec 01. View Abstract
26. An evolutionary perspective on complex neuropsychiatric disease. Neuron. 2024 Jan 03; 112(1):7-24. View Abstract
27. 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
28. Comparative transcriptomics reveals human-specific cortical features. Science. 2023 10 13; 382(6667):eade9516. View Abstract
29. 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
30. 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
31. Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk. medRxiv. 2023 Sep 22. View Abstract
32. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. JAMA Neurol. 2023 09 01; 80(9):980-988. View Abstract
33. 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
34. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Eur J Hum Genet. 2023 09; 31(9):1023-1031. View Abstract
35. 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
36. 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
37. 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
38. A neural stem cell paradigm of pediatric hydrocephalus. Cereb Cortex. 2023 04 04; 33(8):4262-4279. View Abstract
39. 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
40. 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 Jan 24; 120(4):e2209964120. View Abstract
41. 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
42. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. Genet Med. 2023 01; 25(1):49-62. View Abstract
43. 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
44. 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
45. 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
46. 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
47. 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
48. Landscape of somatic mutations in aging human heart muscle cells. Nat Aging. 2022 08; 2(8):686-687. View Abstract
49. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science. 2022 07 29; 377(6605):511-517. View Abstract
50. ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. Ann Clin Transl Neurol. 2022 08; 9(8):1276-1288. View Abstract
51. 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
52. 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
53. Somatic genomic changes in single Alzheimer's disease neurons. Nature. 2022 04; 604(7907):714-722. View Abstract
54. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nat Neurosci. 2022 04; 25(4):458-473. View Abstract
55. Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders. Nat Rev Neurosci. 2022 05; 23(5):275-286. View Abstract
56. 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
57. Brain ventricles as windows into brain development and disease. Neuron. 2022 01 05; 110(1):12-15. View Abstract
58. Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med. 2022 02; 24(2):319-331. View Abstract
59. 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
60. Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions. Neuron. 2021 10 20; 109(20):3239-3251.e7. View Abstract
61. 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
62. Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain. Cancer Discov. 2022 01; 12(1):172-185. View Abstract
63. Application of single cell genomics to focal epilepsies: A call to action. Brain Pathol. 2021 07; 31(4):e12958. View Abstract
64. 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
65. 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
66. 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
67. Brain Somatic Mutation in Aging and Alzheimer's Disease. Annu Rev Genomics Hum Genet. 2021 08 31; 22:239-256. View Abstract
68. Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial. Epilepsia. 2021 06; 62(6):1416-1428. View Abstract
69. 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
70. Comprehensive identification of somatic nucleotide variants in human brain tissue. Genome Biol. 2021 03 29; 22(1):92. View Abstract
71. Landmarks of human embryonic development inscribed in somatic mutations. Science. 2021 03 19; 371(6535):1249-1253. View Abstract
72. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718. View Abstract
73. MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations. BMC Med Genomics. 2021 Feb 12; 14(1):47. View Abstract
74. 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
75. Large mosaic copy number variations confer autism risk. Nat Neurosci. 2021 02; 24(2):197-203. View Abstract
76. 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
77. Somatic copy number variants in neuropsychiatric disorders. Curr Opin Genet Dev. 2021 06; 68:9-17. View Abstract
78. 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
79. Author Correction: Innovations present in the primate interneuron repertoire. Nature. 2020 Dec; 588(7837):E17. View Abstract
80. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Abstract
81. Innovations present in the primate interneuron repertoire. Nature. 2020 10; 586(7828):262-269. View Abstract
82. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2020 Sep; 23(9):1176. View Abstract
83. Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. Sci Rep. 2020 08 20; 10(1):14045. View Abstract
84. APP gene copy number changes reflect exogenous contamination. Nature. 2020 08; 584(7821):E20-E28. View Abstract
85. Jettison-MS of Nucleic Acid Species. J Am Soc Mass Spectrom. 2020 Jul 09. View Abstract
86. 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
87. PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. Clin Genet. 2020 07; 98(1):80-85. View Abstract
88. Recent Advances in Understanding the Genetic Architecture of Autism. Annu Rev Genomics Hum Genet. 2020 08 31; 21:289-304. View Abstract
89. 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
90. 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
91. Ion Channel Functions in Early Brain Development. Trends Neurosci. 2020 02; 43(2):103-114. View Abstract
92. Accurate detection of mosaic variants in sequencing data without matched controls. Nat Biotechnol. 2020 03; 38(3):314-319. View Abstract
93. In Memoriam: Frederick Andermann, MD. Ann Neurol. 2020 Jan; 87(1):1-3. View Abstract
94. Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356. View Abstract
95. 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
96. 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
97. Recessive gene disruptions in autism spectrum disorder. Nat Genet. 2019 07; 51(7):1092-1098. View Abstract
98. 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
99. 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
100. Linked-read analysis identifies mutations in single-cell DNA-sequencing data. Nat Genet. 2019 04; 51(4):749-754. View Abstract
101. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. Am J Med Genet B Neuropsychiatr Genet. 2018 12; 177(8):736-745. View Abstract
102. Somatic mosaicism and neurodevelopmental disease. Nat Neurosci. 2018 11; 21(11):1504-1514. View Abstract
103. Rainer W. Guillery and the genetic analysis of brain development. Eur J Neurosci. 2019 04; 49(7):900-908. View Abstract
104. Genomic and phenotypic delineation of congenital microcephaly. Genet Med. 2019 03; 21(3):545-552. View Abstract
105. 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
106. 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
107. The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position. Neuron. 2018 07 11; 99(1):239-241. View Abstract
108. Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions. Annu Rev Neurosci. 2018 07 08; 41:185-206. View Abstract
109. The Genetics of Primary Microcephaly. Annu Rev Genomics Hum Genet. 2018 08 31; 19:177-200. View Abstract
110. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281. View Abstract
111. Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size. Nature. 2018 04; 556(7701):370-375. View Abstract
112. 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
113. 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
114. Cover Image, Volume 176A, Number 2, February 2018. Am J Med Genet A. 2018 Feb; 176(2):i. View Abstract
115. 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
116. Aging and neurodegeneration are associated with increased mutations in single human neurons. Science. 2018 02 02; 359(6375):555-559. View Abstract
117. Rare variant association test in family-based sequencing studies. Brief Bioinform. 2017 Nov 01; 18(6):954-961. View Abstract
118. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224. View Abstract
119. 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
120. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science. 2017 04 28; 356(6336). View Abstract
121. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. View Abstract
122. 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
123. 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
124. Building a lineage from single cells: genetic techniques for cell lineage tracking. Nat Rev Genet. 2017 04; 18(4):230-244. View Abstract
125. A microRNA negative feedback loop downregulates vesicle transport and inhibits fear memory. Elife. 2016 12 21; 5. View Abstract
126. Cerebral cortical neuron diversity and development at single-cell resolution. Curr Opin Neurobiol. 2017 02; 42:9-16. View Abstract
127. Evolution of Osteocrin as an activity-regulated factor in the primate brain. Nature. 2016 11 10; 539(7628):242-247. View Abstract
128. 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
129. Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Cell. 2016 Oct 06; 167(2):341-354.e12. View Abstract
130. Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex. Cell. 2016 Aug 25; 166(5):1147-1162.e15. View Abstract
131. Resolving rates of mutation in the brain using single-neuron genomics. Elife. 2016 Feb 22; 5. View Abstract
132. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 02; 88(5):910-917. View Abstract
133. 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
134. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015 Oct 02; 350(6256):94-98. View Abstract
135. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 2015 Sep 23; 87(6):1215-1233. View Abstract
136. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Elife. 2015 Aug 22; 4. View Abstract
137. 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
138. Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am. 2015 Jun; 62(3):571-85. View Abstract
139. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28; 84(17):1745-50. View Abstract
140. Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex. Nat Neurosci. 2015 May; 18(5):637-46. View Abstract
141. 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
142. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. View Abstract
143. Genetic changes shaping the human brain. Dev Cell. 2015 Feb 23; 32(4):423-34. View Abstract
144. 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
145. Cell lineage analysis in human brain using endogenous retroelements. Neuron. 2015 Jan 07; 85(1):49-59. View Abstract
146. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014 Dec 17; 84(6):1240-57. View Abstract
147. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13; 515(7526):209-15. View Abstract
148. 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
149. 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
150. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. View Abstract
151. 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
152. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014 Nov 01; 23(21):5781-92. View Abstract
153. 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
154. 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
155. Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science. 2014 Feb 14; 343(6172):764-8. View Abstract
156. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014 Jul 01; 23(13):3456-66. View Abstract
157. The diverse genetic landscape of neurodevelopmental disorders. Annu Rev Genomics Hum Genet. 2014; 15:195-213. View Abstract
158. SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec; 74(6):873-82. View Abstract
159. Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 2014 Apr; 45(2):93-101. View Abstract
160. Neuroscience. What are mini-brains? Science. 2013 Oct 11; 342(6155):200-1. View Abstract
161. Peter Huttenlocher (1931-2013). Nature. 2013 Oct 10; 502(7470):172. View Abstract
162. 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
163. New innovations: therapeutic opportunities for intellectual disabilities. Ann Neurol. 2013 Sep; 74(3):382-90. View Abstract
164. Somatic mutation, genomic variation, and neurological disease. Science. 2013 Jul 05; 341(6141):1237758. View Abstract
165. 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
166. Isolation of cerebrospinal fluid from rodent embryos for use with dissected cerebral cortical explants. J Vis Exp. 2013 Mar 11; (73):e50333. View Abstract
167. 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
168. 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
169. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. View Abstract
170. Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol. 2013 Feb; 28(2):198-203. View Abstract
171. 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
172. Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell. 2012 Oct 26; 151(3):483-96. View Abstract
173. Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism. 2012 Oct 15; 3(1):9. View Abstract
174. Genetic causes of microcephaly and lessons for neuronal development. Wiley Interdiscip Rev Dev Biol. 2013 Jul; 2(4):461-78. View Abstract
175. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov; 44(11):1260-4. View Abstract
176. 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
177. 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
178. Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins. Mol Cell. 2012 Sep 14; 47(5):707-21. View Abstract
179. Developmental basis for filamin-A-associated myxomatous mitral valve disease. Cardiovasc Res. 2012 Oct 01; 96(1):109-19. View Abstract
180. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. View Abstract
181. Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. Nucleic Acids Res. 2012 Aug; 40(14):6608-19. View Abstract
182. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 2012; 8(4):e1002635. View Abstract
183. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012 Apr 12; 74(1):41-8. View Abstract
184. Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. Am J Med Genet A. 2012 Apr; 158A(4):888-93. View Abstract
185. Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2. BMC Res Notes. 2011 Dec 13; 4:534. View Abstract
186. Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. Am J Med Genet A. 2011 Nov; 155A(11):2647-53. View Abstract
187. Neurogenesis at the brain-cerebrospinal fluid interface. Annu Rev Cell Dev Biol. 2011; 27:653-79. View Abstract
188. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011 Jun 09; 70(5):863-85. View Abstract
189. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet. 2011 May; 7(5):e1002062. View Abstract
190. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13; 88(5):536-47. View Abstract
191. The cerebrospinal fluid provides a proliferative niche for neural progenitor cells. Neuron. 2011 Mar 10; 69(5):893-905. View Abstract
192. Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome. Nature. 2011 Apr 14; 472(7342):221-5. View Abstract
193. What disorders of cortical development tell us about the cortex: one plus one does not always make two. Curr Opin Genet Dev. 2011 Jun; 21(3):333-9. View Abstract
194. A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype. Neural Dev. 2011 Jan 07; 6:3. View Abstract
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392. Age-related fiber order in the optic tract of the ferret. J Neurosci. 1985 Nov; 5(11):3061-9. View Abstract
393. The topography of ganglion cell production in the cat's retina. J Neurosci. 1985 Mar; 5(3):741-50. View Abstract
394. A technique for flat embedding and en face sectioning of the mammalian retina for autoradiography. J Neurosci Methods. 1984 Nov; 12(1):57-64. View Abstract
395. Generation of cat retinal ganglion cells in relation to central pathways. Nature. 1983 Apr 14; 302(5909):611-4. View Abstract
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