Shane C. Quinonez

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss, Hayley P. Lazar, Alina Kurolap et al. · Genetics in Medicine · 2019 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Bobby G. Ng, Paulina Sosicka, Satish Agadi et al. · Human Mutation · 2019 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency

Shane C. Quinonez, Steven M. Leber, Donna M. Martin et al. · Pediatric Neurology · 2013 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

A new POT1 germline mutation—expanding the spectrum of POT1-associated cancers

Tremika L.S. Wilson, Namita G. Hattangady, Antônio Marcondes Lerário et al. · Familial Cancer · 2017 · 43 citations

Medicine, Genetics, Oncology +14

Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

Mark N. Ziats, Ayesha Ahmad, John Bernat et al. · Pediatric Research · 2019 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16