Peter N. Ray

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

Elizabeth E. Zubrzycka‐Gaarn, Dennis E. Bulman, George Karpati et al. · Nature · 1988 · 659 citations

Medicine, Genetics, Molecular Genetics +12

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 · 565 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Whole-genome sequencing of quartet families with autism spectrum disorder

Ryan K. C. Yuen, Bhooma Thiruvahindrapuram, Daniele Merico et al. · Nature Medicine · 2015 · 541 citations

Life Sciences, Genetics, Molecular Genetics +9

Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number

Patricia McAndrew, D. Williams Parsons, Louise R. Simard et al. · The American Journal of Human Genetics · 1997 · 533 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Subgroup-Specific Prognostic Implications of <i>TP53</i> Mutation in Medulloblastoma

Nataliya Zhukova, Vijay Ramaswamy, Marc Remke et al. · Journal of Clinical Oncology · 2013 · 488 citations · Full text

Medicine, Molecular Genetics, Oncology +17