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Author Details

Brett Copeland
University of California
2014
18
15
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
35931054Natural Selection Shapes Codon Usage in the Human Genome.Am J Hum Genet2022
35444276Somatic mosaicism reveals clonal distributions of neocortical development.Nature2022
32516569Natural Selection Shapes Codon Usage in the Human Genome.Am J Hum Genet2020
30686509Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.Am J Hum Genet2019
31412107Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.Brain2019
31034465Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.PLoS Genet2019
30476936The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.Ann Intern Med2019
30586318Diagnostic Utility of Exome Sequencing for Kidney Disease.N Engl J Med2019
29324863Correction: Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.PLoS One2018
30178464Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.Ann Neurol2018
30013181Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.Nat Genet2018
28797091Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.PLoS One2017
29186148A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.PLoS Genet2017
26026149Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.Elife2015
26523971An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development.Nat Med2015
25848753Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.Nat Genet2015
26005868Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.Nat Genet2015
25480035Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.Am J Hum Genet2014
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University of California
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Yale School of Medicine
Co-authored papers 4
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Duke University School of Medicine
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Hamad Medical Corporation.
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University of Pavia
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Fondazione IRCCS Casa Sollievo della Sofferenza,71013
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Ali G Gharavi
Columbia University College of Physicians and Surgeons
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Matloob Azam
Wah Medical College
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Faruk Incecik
Cukurova University Faculty of Medicine
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Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
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H??lya Kayserili
Istanbul University
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Basak Rosti
Howard Hughes Medical Institute, The Rockefeller University
Co-authored papers 2
William B Dobyns
University of Minnesota
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Faezeh Mojahedi
Blood Borne Infections Research Center, Academic Center for Education
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Mahmoud Y Issa
Human Genetics and Genome Research Institute, National Research Centre
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Laila Selim
Cairo University
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Release 1.2