Publications by authors named "Brett Copeland"

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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Brett Copeland

Nat Genet· February 2023

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Natural Selection Shapes Codon Usage in the Human Genome.
Ryan S Dhindsa, Brett R Copeland, Anthony M Mustoe, David B Goldstein

Am J Hum Genet· August 2022

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Somatic mosaicism reveals clonal distributions of neocortical development.
Martin W Breuss, Xiaoxu Yang, Johannes C M Schlachetzki, Danny Antaki, Addison J Lana, Brett R Copeland

Nature· April 2022

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Natural Selection Shapes Codon Usage in the Human Genome.
Ryan S Dhindsa, Brett R Copeland, Anthony M Mustoe, David B Goldstein

Am J Hum Genet· July 2020

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Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
Roberta De Mori, Mariasavina Severino, Maria Margherita Mancardi, Danila Anello, Silvia Tardivo, Brett R Copeland

Brain· October 2019

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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Brett Copeland

PLoS Genet· April 2019

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Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.
Tristan J Hayeck, Nicholas Stong, Charles J Wolock, Brett Copeland, Sitharthan Kamalakaran

Am J Hum Genet· February 2019

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The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.
Hila Milo Rasouly, Emily E Groopman, Reuben Heyman-Kantor, David A Fasel, Adele Mitrotti, Brett Copeland

Ann Intern Med· January 2019

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Diagnostic Utility of Exome Sequencing for Kidney Disease.
Emily E Groopman, Maddalena Marasa, Sophia Cameron-Christie, Slavé Petrovski, Vimla S Aggarwal, Brett Copeland

N Engl J Med· January 2019

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Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Alicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, Anne Gregor, Maha S Zaki, Brett Copeland

Ann Neurol· November 2018

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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Ashleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, Nouriya Al-Sanaa, Hind Y Al-Abdulwahed, Brett Copeland

Nat Genet· August 2018

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Correction: Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.
Ayal B Gussow, Brett R Copeland, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski

PLoS One· January 2018

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A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
Xiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, Joshua Bridgers, Zhong Ren

PLoS Genet· November 2017

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Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.
Ayal B Gussow, Brett R Copeland, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski

PLoS One· October 2017

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An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development.
Seung Tae Baek, Brett Copeland, Eun-Jin Yun, Seok-Kyu Kwon, Alicia Guemez-Gamboa

Nat Med· December 2015

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Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Alicia Guemez-Gamboa, Long N Nguyen, Hongbo Yang, Maha S Zaki, Majdi Kara, Brett Copeland

Nat Genet· July 2015

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Naiara Akizu, Vincent Cantagrel, Maha S Zaki, Lihadh Al-Gazali, Xin Wang, Brett Copeland

Nat Genet· May 2015

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland

Elife· May 2015

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Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
Rosalind Law, Tracy Dixon-Salazar, Julie Jerber, Na Cai, Ansar A Abbasi, Brett Copeland

Am J Hum Genet· December 2014

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