Ajoy Vincent

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 551 citations · Full text

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Susanne Kohl, Ditta Zobor, Wei‐Chieh Chiang et al. · Nature Genetics · 2015 · 211 citations · Full text

Signal Transduction, Disease Mechanism, Genetic Disorder +7

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Catherine Deveault, Gail Billingsley, Jacque L. Duncan et al. · Human Mutation · 2011 · 123 citations

Neurological Disorder, Genetic Epidemiology, Pathology +22

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

Eva Lenassi, Ajoy Vincent, Zheng Li et al. · European Journal of Human Genetics · 2015 · 119 citations · Full text

Mutations in<i>C8ORF37</i>cause Bardet Biedl syndrome (BBS21)

Elise Héon, Gun‐Hee Kim, Sophie Qin et al. · Human Molecular Genetics · 2016 · 102 citations · Full text