R. Hill

S. Gabriel, C. Walsh, J. Ellison, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

I. Scheffer, C. Walsh, Y. Shugart, 2004, Brain and Development.

CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

C. Walsh, F. Alkuraya, R. Hill, 2014, Cell reports.

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

Timothy W. Yu, Christopher A. Walsh, Michael E. Coulter, 2012, PLoS genetics.

SLC25A22 is a novel gene for migrating partial seizures in infancy

I. Scheffer, C. Walsh, A. Barkovich, 2013, Annals of neurology.

Exome Analyses Reveal New Autism Genes in Synaptic, Transcriptional, and Chromatin Networks Supplementary Methods

Christopher S. Poultney, Stephan J Sanders, Evan T. Geller, 2022 .

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

C. Walsh, M. Greenberg, T. Yu, 2020, Scientific Reports.

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Maria K. Lehtinen, C. Walsh, R. Beroukhim, 2012, Neuron.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

C. Walsh, A. Barkovich, S. Tinschert, 2010, American journal of human genetics.

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia

J. V. Moran, Michael E. Coulter, Laurel L. Ball, 2019, bioRxiv.

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Michael E. Coulter, C. Walsh, C. Schubert, 2014, Human molecular genetics.

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Athar N. Malik, C. Walsh, L. Zon, 2012, Nature Genetics.

Somatic mutations in cerebral cortical malformations.

J. Shendure, I. Scheffer, C. Walsh, 2014, The New England journal of medicine.

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Sara B. Linker, Ryan E. Mills, Kiely N. James, 2023, Nature Genetics.

Comment on "Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens"

David Reich, Christopher A Walsh, Pardis C Sabeti, 2007, Science.

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

C. Walsh, E. Yang, A. Barkovich, 2020, Neuron.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Dian Donnai, Graeme C.M. Black, Nicolas Chassaing, 2007, Nature Genetics.

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

S. Gabriel, K. Shianna, C. Walsh, 2012, American journal of human genetics.

EMX2‐independent familial schizencephaly: Clinical and genetic analyses

C. Walsh, I. Tietjen, B. Chang, 2005, American journal of medical genetics. Part A.

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

C. Walsh, L. Zon, A. Munnich, 2014, American journal of human genetics.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Michael E. Coulter, A. Barkovich, J. Stoler, 2015, American journal of human genetics.

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Masahiko Watanabe, A. Barkovich, J. Stoler, 2013, Neurology.

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

C. Walsh, P. Grant, Y. Shugart, 2004, Nature Genetics.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Isabella Moroni, Thomas Voit, Hamid Galehdari, 2017, American journal of human genetics.

Molecular insights into human brain evolution

C. Walsh, R. Hill, 2005, Nature.

Early role for a Na+,K+-ATPase (ATP1A3) in brain development

C. Walsh, S. Mccarroll, Melissa Goldman, 2021, Proceedings of the National Academy of Sciences.

Impaired proliferation and migration in human Miller‐Dieker neural precursors

J. Corbo, R. Folkerth, A. Chenn, 2006, Annals of neurology.

Neocortical neuronal arrangement in Miller Dieker syndrome

C. Walsh, J. Corbo, R. Folkerth, 2006, Acta Neuropathologica.

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

R. Deberardinis, D. Housman, A. Barkovich, 2016, Proceedings of the National Academy of Sciences.

The genetic basis of inherited primary nocturnal enuresis: A UAE study.

R. Bayoumi, V. Eapen, R. Hill, 2006, Journal of psychosomatic research.

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

C. Walsh, G. Gascon, F. Alkuraya, 2011, American journal of human genetics.

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

E. M. DeGennaro, Kiely N. James, Michael E. Coulter, 2020, Genetics in Medicine.

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

C. Walsh, P. Bauer, A. Barkovich, 2021, Genetics in Medicine.

Autosomal recessive form of periventricular heterotopia

C. Walsh, Y. Shugart, S. Berkovic, 2003, Neurology.

Role for the Na+/K+ ATPase pump alpha 3 (ATP1A3) subunit in folding and lamination of the human neocortex

C. Walsh, S. Mccarroll, Melissa Goldman, 2020 .

Cerebellar ataxia with progressive improvement.

C. Walsh, J. Tsao, W. Dobyns, 2006, Archives of neurology.

Mutations in ARFGEF 2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

C. Walsh, P. Grant, Y. Shugart, 2022 .

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

C. Walsh, Ming-Hui Chen, S. Robertson, 2005, Neurology.

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

Sara B. Linker, Evan Z. Macosko, Thomas G. Gilgenast, 2023, Cell genomics.

Response: Filamin A, Periventricular Nodular Heterotopia, and West Syndrome

C. Walsh, A. Sakamoto, R. Hill, 2006 .

Corrigendum: Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

C. Walsh, Y. Shugart, M. Ruvolo, 2004, Nature Genetics.

Control-independent mosaic single nucleotide variant detection with DeepMosaic

Ryan E. Mills, J. V. Moran, Michael E. Coulter, 2023, Nature Biotechnology.

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

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia

Sara B. Linker, Ryan E. Mills, J. V. Moran, 2021, Nature Neuroscience.

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

G. Gascon, F. Alkuraya, R. Hill, 2011, American journal of human genetics.

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

S. Gabriel, K. Shianna, C. Walsh, 2012, American journal of human genetics.

Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex

Michael A. Lodato, R. Hill, Yanmei Dou, 2023, bioRxiv.