Wafaa Eyaid

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

Russell J. Ferland, Wafaa Eyaid, Randall V. Collura et al. · Nature Genetics · 2004 · 411 citations · Full text

Developmental Anomaly, Axonal Decussation, Abnormal Cerebellar Development +11

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis et al. · Nature Genetics · 2008 · 394 citations

Syndromic Encephalocele Genes, Developmental Biology, Mendelian Disorder +9

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy et al. · European Journal of Human Genetics · 2016 · 361 citations · Full text

Wes Processes, Genetics, Genetic Epidemiology +21

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

Simeon A. Boyadjiev, J. Christopher Fromme, Jin Ben et al. · Nature Genetics · 2006 · 317 citations

Developmental Anomaly, Developmental Biology, Genetic Disorder +10

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

Jun Shen, Edward C. Gilmore, Christine A Marshall et al. · Nature Genetics · 2010 · 289 citations · Full text

Genome Instability, Genetic Disorder, Genetics +7