Wadih M. Zein

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Christina Lam, Carlos R. Ferreira, Donna M. Krasnewich et al. · Genetics in Medicine · 2016 · 145 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +6

A Phase I Study of PF-04929113 (SNX-5422), an Orally Bioavailable Heat Shock Protein 90 Inhibitor, in Patients with Refractory Solid Tumor Malignancies and Lymphomas

Arun Rajan, Ronan J. Kelly, Jane B. Trepel et al. · Clinical Cancer Research · 2011 · 140 citations · Full text

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Thierry Vilboux, Dan Doherty, Ian A. Glass et al. · Genetics in Medicine · 2017 · 129 citations · Full text

Mendelian Disorder, Joubert Syndrome, Genetic Disorder +10

Allelic hierarchy of <i>CDH23</i> mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Julie M. Schultz, Rashid Bhatti, Anne C. Madeo et al. · Journal of Medical Genetics · 2011 · 103 citations

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome

Joan C. Han, Audrey Thurm, Christine Golden Williams et al. · Cortex · 2013 · 102 citations · Full text

Neuropsychological Functioning, Neurological Functioning, Brain Function +7