J. Partlow

发表

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Eric M. Morrow, Annapurna Poduri, Fuki M. Hisama, 2013, Neuron.

Developmental and Degenerative Features in a Complicated Spastic Paraplegia

C. Walsh, A. LaMantia, T. Maynard, 2009, Annals of neurology.

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

Michael E. Coulter, C. Walsh, S. Wiemann, 2017, Genome research.

Loss of PCLO function underlies pontocerebellar hypoplasia type III

M. Hurles, C. Walsh, M. Patton, 2015, Neurology.

Deficient activity of alanyl‐tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

A. Barkovich, P. Galvin-Parton, R. Hill, 2017, Human mutation.

Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

C. Walsh, F. Alkuraya, T. Yu, 2014, Neuron.

Genomic and phenotypic delineation of congenital microcephaly

C. Walsh, F. Alkuraya, S. Arold, 2018, Genetics in Medicine.

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

Eric M. Morrow, Soher Balkhy, Christopher A. Walsh, 2008, Science.

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

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.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

J. Lupski, C. Walsh, S. Jhangiani, 2019, American journal of human genetics.

Evolution of Osteocrin as an activity-regulated factor in the primate brain

Athar N. Malik, Eric C. Griffith, C. Walsh, 2016, Nature.

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.

Genomic and phenotypic delineation of congenital microcephaly

C. Walsh, F. Alkuraya, S. Arold, 2018, Genetics in Medicine.

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.

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

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

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.

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.

Ethnically diverse causes of Walker‐Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

C. Walsh, W. Dobyns, Karen R Schmidt, 2008, Human mutation.

Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort

C. Walsh, G. Shaw, A. Barkovich, 2010, American journal of medical genetics. Part A.

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 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.

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.

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

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

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

C. Walsh, N. Krogan, Jeffrey R. Johnson, 2015, eLife.

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.

SLC25A22 is a novel gene for migrating partial seizures in infancy

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

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

C. Walsh, Ryan N. Doan, J. Partlow, 2017, European journal of medical genetics.

Expanding the clinical spectrum of biallelic ZNF335 variants

C. Walsh, S. Seneca, A. Stergachis, 2018, Clinical genetics.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

C. Walsh, A. Barkovich, D. Riva, 2010, Brain and Development.

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

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

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

S. Tinschert, G. Mochida, J. Partlow, 2010, American journal of human genetics.

I. Scheffer, P. Striano, F. Alkuraya, 2023, European 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.

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.