Christopher Walsh

Publications

1. Reconstructing multi-scale tissue spatial architecture from single-cell RNA-seq with REMAP. bioRxiv. 2026 Feb 22. View Abstract
2. ARX mutation-associated interneuron defects provide insights into mechanisms underlying developmental epilepsies. Brain. 2026 Feb 03. View Abstract
3. De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder. Eur J Hum Genet. 2026 Jan 28. View Abstract
4. GH Alters Lymphatic Vessels in Female Mice and STAT5 Phosphorylation in Human Lymphatic Endothelial Cells. Endocrinology. 2026 Jan 08; 167(2). View Abstract
5. Biophysical basis for brain folding and misfolding patterns in ferrets and humans. Elife. 2025 Dec 29; 14. View Abstract
6. Targeting Growth Hormone Receptor to Overcome Therapy Resistance in Non-Small Cell Lung Cancer. Int J Mol Sci. 2025 Dec 22; 27(1). View Abstract
7. Sex-Specific transcriptomic changes in adipose tissue following adult-onset disruption of growth hormone receptor. Pituitary. 2025 Dec 05; 29(1):5. View Abstract
8. Amplification of laser imprint in the presence of strong, externally imposed, target-normal magnetic fields. Phys Rev E. 2025 Nov; 112(5-2):055204. View Abstract
9. Corrigendum to "The burden of early onset psychosis: Diagnostic complexity, high comorbidity, and poor functioning in patients and their relatives" [Schizophr. Res. Volume 285, November 2025, Pages 165-174]. Schizophr Res. 2025 Nov; 285:379. View Abstract
10. Transcriptomic Convergence and the Female Protective Effect in Autism. bioRxiv. 2025 Oct 08. View Abstract
11. The burden of early onset psychosis: Diagnostic complexity, high comorbidity, and poor functioning in patients and their relatives. Schizophr Res. 2025 Nov; 285:165-174. View Abstract
12. Anesthetic management with labor epidural analgesia of the parturient with severe factor VII deficiency: a case report. Reg Anesth Pain Med. 2025 09 04; 50(9):764-767. View Abstract
13. ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. Brain. 2025 Sep 03; 148(9):3407-3421. View Abstract
14. Cesarean Scar Niche and Pelvic Pain: A Systematic Review and Meta-Analysis. J Minim Invasive Gynecol. 2025 Dec; 32(12):1053-1061.e15. View Abstract
15. High-resolution detection of copy number alterations in single cells with HiScanner. Nat Commun. 2025 Jul 01; 16(1):5477. View Abstract
16. Cell-type-specific patterns and consequences of somatic mutation in development and aging brain. bioRxiv. 2025 May 31. View Abstract
17. Clonal Hematopoiesis Mutations Increase Risk of Alzheimer's Disease with APOE e3/e3 Genotype. bioRxiv. 2025 May 21. View Abstract
18. Spatial transcriptomics reveals human cortical layer and area specification. Nature. 2025 Aug; 644(8075):153-163. View Abstract
19. Enteral and parenteral nutrition in patients with cancer: complication rates compared-updated systematic review and meta-analysis. BMJ Support Palliat Care. 2025 Apr 30; 15(3):281-290. View Abstract
20. Advances in single-cell DNA sequencing enable insights into human somatic mosaicism. Nat Rev Genet. 2025 Nov; 26(11):761-774. View Abstract
21. Perinatal Elimination of Genetically Aberrant Neurons from Human Cerebral Cortex. bioRxiv. 2025 Apr 03. View Abstract
22. High-resolution detection of copy number alterations in single cells with HiScanner. bioRxiv. 2025 Apr 03. View Abstract
23. Clinical and Neuropsychological Phenotyping of Individuals With Somatic Variants in Neurodevelopmental Disorders. Neurol Genet. 2025 Apr; 11(2):e200254. View Abstract
24. Author Correction: Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome. Nature. 2025 Apr; 640(8060):E34. View Abstract
25. FOS binding sites are a hub for the evolution of activity-dependent gene regulatory programs in human neurons. bioRxiv. 2025 Mar 31. View Abstract
26. Human-chimpanzee tetraploid system defines mechanisms of species-specific neural gene regulation. bioRxiv. 2025 Mar 31. View Abstract
27. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. Brain Commun. 2025; 7(2):fcaf113. View Abstract
28. Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders. bioRxiv. 2025 Mar 08. View Abstract
29. Biophysical basis for brain folding and misfolding patterns in ferrets and humans. bioRxiv. 2025 Mar 06. View Abstract
30. Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy. bioRxiv. 2025 Mar 04. View Abstract
31. 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
32. 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
33. Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. Science. 2024 10 11; 386(6718):217-224. View Abstract
34. Conserved transcriptional regulation by BRN1 and BRN2 in neocortical progenitors drives mammalian neural specification and neocortical expansion. Nat Commun. 2024 09 14; 15(1):8043. View Abstract
35. 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
36. Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Hum Genet. 2024 Jul; 143(7):921-938. View Abstract
37. Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease. Acta Neuropathol. 2024 07 24; 148(1):10. View Abstract
38. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. medRxiv. 2024 Jul 22. View Abstract
39. 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
40. Growth Hormone Receptor Antagonist Markedly Improves Gemcitabine Response in a Mouse Xenograft Model of Human Pancreatic Cancer. Int J Mol Sci. 2024 Jul 06; 25(13). View Abstract
41. 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
42. Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease. bioRxiv. 2024 Jun 29. View Abstract
43. Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements. medRxiv. 2024 Jun 19. View Abstract
44. Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification. bioRxiv. 2024 Jun 10. View Abstract
45. ARX regulates cortical interneuron differentiation and migration. bioRxiv. 2024 Jun 06. View Abstract
46. Single-nucleus multi-omic profiling of polyploid heart nuclei identifies fusion-derived cardiomyocytes in the human heart. Res Sq. 2024 May 30. View Abstract
47. Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain. bioRxiv. 2024 May 22. View Abstract
48. BRN1/2 Function in Neocortical Size Determination and Microcephaly. bioRxiv. 2024 May 15. View Abstract
49. 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
50. Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes. Cell. 2024 Apr 11; 187(8):1955-1970.e23. View Abstract
51. Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia. Front Genet. 2023; 14:1294214. View Abstract
52. The Effect of Hormonal Treatment on Ovarian Endometriomas: A Systematic Review and Meta-Analysis. J Minim Invasive Gynecol. 2024 Apr; 31(4):273-279. View Abstract
53. Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia. bioRxiv. 2024 Jan 04. View Abstract
54. Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. Neurol Genet. 2024 Feb; 10(1):e200117. View Abstract
55. Neurosurgery elucidates somatic mutations. Science. 2023 12 22; 382(6677):1360-1362. View Abstract
56. Shaping the brain: The emergence of cortical structure and folding. Dev Cell. 2023 12 18; 58(24):2836-2849. View Abstract
57. The Evolving Roles and Expectations of Inpatient Palliative Care Through COVID-19: a Systematic Review and Meta-synthesis. J Gen Intern Med. 2024 Mar; 39(4):661-682. View Abstract
58. Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. bioRxiv. 2023 Dec 01. View Abstract
59. An evolutionary perspective on complex neuropsychiatric disease. Neuron. 2024 Jan 03; 112(1):7-24. View Abstract
60. Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases. Sci Data. 2023 11 20; 10(1):813. View Abstract
61. 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
62. Comparative transcriptomics reveals human-specific cortical features. Science. 2023 10 13; 382(6667):eade9516. View Abstract
63. 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
64. 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
65. Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk. medRxiv. 2023 Sep 22. View Abstract
66. Neurofeedback for obsessive compulsive disorder: A randomized, double-blind trial. Psychiatry Res. 2023 10; 328:115458. View Abstract
67. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. JAMA Neurol. 2023 09 01; 80(9):980-988. View Abstract
68. 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
69. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Eur J Hum Genet. 2023 09; 31(9):1023-1031. View Abstract
70. 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
71. 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
72. Amygdala downregulation training using fMRI neurofeedback in post-traumatic stress disorder: a randomized, double-blind trial. Transl Psychiatry. 2023 05 25; 13(1):177. View Abstract
73. 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
74. A neural stem cell paradigm of pediatric hydrocephalus. Cereb Cortex. 2023 04 04; 33(8):4262-4279. View Abstract
75. 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
76. 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
77. 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
78. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. Genet Med. 2023 01; 25(1):49-62. View Abstract
79. 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
80. 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
81. 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
82. 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
83. Cesarean scar defects and abnormal uterine bleeding: a systematic review and meta-analysis. Fertil Steril. 2022 10; 118(4):758-766. View Abstract
84. 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
85. Landscape of somatic mutations in aging human heart muscle cells. Nat Aging. 2022 08; 2(8):686-687. View Abstract
86. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science. 2022 07 29; 377(6605):511-517. View Abstract
87. ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. Ann Clin Transl Neurol. 2022 08; 9(8):1276-1288. View Abstract
88. 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
89. 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
90. Somatic genomic changes in single Alzheimer's disease neurons. Nature. 2022 04; 604(7907):714-722. View Abstract
91. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nat Neurosci. 2022 04; 25(4):458-473. View Abstract
92. Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders. Nat Rev Neurosci. 2022 05; 23(5):275-286. View Abstract
93. 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
94. Brain ventricles as windows into brain development and disease. Neuron. 2022 01 05; 110(1):12-15. View Abstract
95. Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med. 2022 02; 24(2):319-331. View Abstract
96. 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
97. Retrograde Bladder Filling After Outpatient Gynecologic Surgery: A Systematic Review and Meta-analysis. Obstet Gynecol. 2021 10 01; 138(4):647-654. View Abstract
98. Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions. Neuron. 2021 10 20; 109(20):3239-3251.e7. View Abstract
99. 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
100. Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain. Cancer Discov. 2022 01; 12(1):172-185. View Abstract
101. DNA Adductomics by mass tag prelabeling. Rapid Commun Mass Spectrom. 2021 Jul 15; 35(13):e9095. View Abstract
102. Application of single cell genomics to focal epilepsies: A call to action. Brain Pathol. 2021 07; 31(4):e12958. View Abstract
103. Mesenchymal Stem/Stromal Cells Increase Cardiac miR-187-3p Expression in a Polymicrobial Animal Model of Sepsis. Shock. 2021 07 01; 56(1):133-141. View Abstract
104. 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
105. Medical treatment of uterine arteriovenous malformation: a systematic review and meta-analysis. Fertil Steril. 2021 10; 116(4):1107-1116. View Abstract
106. 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
107. 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
108. Brain Somatic Mutation in Aging and Alzheimer's Disease. Annu Rev Genomics Hum Genet. 2021 08 31; 22:239-256. View Abstract
109. Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial. Epilepsia. 2021 06; 62(6):1416-1428. View Abstract
110. 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
111. Comprehensive identification of somatic nucleotide variants in human brain tissue. Genome Biol. 2021 03 29; 22(1):92. View Abstract
112. Landmarks of human embryonic development inscribed in somatic mutations. Science. 2021 03 19; 371(6535):1249-1253. View Abstract
113. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718. View Abstract
114. MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations. BMC Med Genomics. 2021 Feb 12; 14(1):47. View Abstract
115. 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
116. Large mosaic copy number variations confer autism risk. Nat Neurosci. 2021 02; 24(2):197-203. View Abstract
117. 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
118. Somatic copy number variants in neuropsychiatric disorders. Curr Opin Genet Dev. 2021 06; 68:9-17. View Abstract
119. Identified unmet needs and proposed solutions in mild-to-moderate haemophilia: A summary of opinions from a roundtable of haemophilia experts. Haemophilia. 2021 Jan; 27 Suppl 1:25-32. View Abstract
120. 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
121. Author Correction: Innovations present in the primate interneuron repertoire. Nature. 2020 Dec; 588(7837):E17. View Abstract
122. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Abstract
123. Innovations present in the primate interneuron repertoire. Nature. 2020 10; 586(7828):262-269. View Abstract
124. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2020 Sep; 23(9):1176. View Abstract
125. Optimal trough levels in haemophilia B: Raising expectations. Haemophilia. 2020 Nov; 26(6):e334-e336. View Abstract
126. Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. Sci Rep. 2020 08 20; 10(1):14045. View Abstract
127. APP gene copy number changes reflect exogenous contamination. Nature. 2020 08; 584(7821):E20-E28. View Abstract
128. Jettison-MS of Nucleic Acid Species. J Am Soc Mass Spectrom. 2020 Jul 09. View Abstract
129. 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
130. PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. Clin Genet. 2020 07; 98(1):80-85. View Abstract
131. Recent Advances in Understanding the Genetic Architecture of Autism. Annu Rev Genomics Hum Genet. 2020 08 31; 21:289-304. View Abstract
132. 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
133. 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
134. Ion Channel Functions in Early Brain Development. Trends Neurosci. 2020 02; 43(2):103-114. View Abstract
135. Accurate detection of mosaic variants in sequencing data without matched controls. Nat Biotechnol. 2020 03; 38(3):314-319. View Abstract
136. In Memoriam: Frederick Andermann, MD. Ann Neurol. 2020 Jan; 87(1):1-3. View Abstract
137. Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356. View Abstract
138. 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
139. 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
140. Growth Hormone Upregulates Melanocyte-Inducing Transcription Factor Expression and Activity via JAK2-STAT5 and SRC Signaling in GH Receptor-Positive Human Melanoma. Cancers (Basel). 2019 Sep 12; 11(9). View Abstract
141. Randomized, Sham-Controlled Trial of Real-Time Functional Magnetic Resonance Imaging Neurofeedback for Tics in Adolescents With Tourette Syndrome. Biol Psychiatry. 2020 06 15; 87(12):1063-1070. View Abstract
142. Recessive gene disruptions in autism spectrum disorder. Nat Genet. 2019 07; 51(7):1092-1098. View Abstract
143. 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
144. Palliative Care Transitions From Acute Care to Community-Based Care-A Systematic Review. J Pain Symptom Manage. 2019 10; 58(4):721-734.e1. View Abstract
145. 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
146. Linked-read analysis identifies mutations in single-cell DNA-sequencing data. Nat Genet. 2019 04; 51(4):749-754. View Abstract
147. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. Am J Med Genet B Neuropsychiatr Genet. 2018 12; 177(8):736-745. View Abstract
148. Somatic mosaicism and neurodevelopmental disease. Nat Neurosci. 2018 11; 21(11):1504-1514. View Abstract
149. Rainer W. Guillery and the genetic analysis of brain development. Eur J Neurosci. 2019 04; 49(7):900-908. View Abstract
150. Genomic and phenotypic delineation of congenital microcephaly. Genet Med. 2019 03; 21(3):545-552. View Abstract
151. 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
152. Somatic Mutation in Pediatric Neurological Diseases. Pediatr Neurol. 2018 10; 87:20-22. View Abstract
153. 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
154. The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position. Neuron. 2018 07 11; 99(1):239-241. View Abstract
155. Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions. Annu Rev Neurosci. 2018 07 08; 41:185-206. View Abstract
156. Making a Notch in the Evolution of the Human Cortex. Dev Cell. 2018 06 04; 45(5):548-550. View Abstract
157. The Genetics of Primary Microcephaly. Annu Rev Genomics Hum Genet. 2018 08 31; 19:177-200. View Abstract
158. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281. View Abstract
159. Time course of clinical change following neurofeedback. Neuroimage. 2018 11 01; 181:807-813. View Abstract
160. Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size. Nature. 2018 04; 556(7701):370-375. View Abstract
161. 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
162. 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
163. Cover Image, Volume 176A, Number 2, February 2018. Am J Med Genet A. 2018 Feb; 176(2):i. View Abstract
164. 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
165. Aging and neurodegeneration are associated with increased mutations in single human neurons. Science. 2018 02 02; 359(6375):555-559. View Abstract
166. Rare variant association test in family-based sequencing studies. Brief Bioinform. 2017 Nov 01; 18(6):954-961. View Abstract
167. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224. View Abstract
168. 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
169. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science. 2017 04 28; 356(6336). View Abstract
170. Management of US men, women, and children with hemophilia and methods and demographics of the Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. Eur J Haematol. 2017 Apr; 98 Suppl 86:5-17. View Abstract
171. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. View Abstract
172. 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
173. 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
174. Building a lineage from single cells: genetic techniques for cell lineage tracking. Nat Rev Genet. 2017 04; 18(4):230-244. View Abstract
175. A microRNA negative feedback loop downregulates vesicle transport and inhibits fear memory. Elife. 2016 12 21; 5. View Abstract
176. Cerebral cortical neuron diversity and development at single-cell resolution. Curr Opin Neurobiol. 2017 02; 42:9-16. View Abstract
177. Evolution of Osteocrin as an activity-regulated factor in the primate brain. Nature. 2016 11 10; 539(7628):242-247. View Abstract
178. 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
179. Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Cell. 2016 Oct 06; 167(2):341-354.e12. View Abstract
180. Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex. Cell. 2016 Aug 25; 166(5):1147-1162.e15. View Abstract
181. Resolving rates of mutation in the brain using single-neuron genomics. Elife. 2016 Feb 22; 5. View Abstract
182. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 02; 88(5):910-917. View Abstract
183. 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
184. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015 Oct 02; 350(6256):94-98. View Abstract
185. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 2015 Sep 23; 87(6):1215-1233. View Abstract
186. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Elife. 2015 Aug 22; 4. View Abstract
187. 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
188. Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am. 2015 Jun; 62(3):571-85. View Abstract
189. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28; 84(17):1745-50. View Abstract
190. Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex. Nat Neurosci. 2015 May; 18(5):637-46. View Abstract
191. 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
192. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. View Abstract
193. Genetic changes shaping the human brain. Dev Cell. 2015 Feb 23; 32(4):423-34. View Abstract
194. 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
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