Rachel S. Fisher

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

C. Alexander Valencia, Ammar Husami, Jennifer Holle et al. · Frontiers in Pediatrics · 2015 · 179 citations · Full text

Utility of serum antibodies in determining clinical course in pediatric Crohn’s disease

Barbara Désir, Devendra Amre, Shou‐En Lu et al. · Clinical Gastroenterology and Hepatology · 2004 · 72 citations · Full text

Clinical Course, Pediatric Crohn ’, Childhood Arthritis +8

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Anaïs Begemann, Heinrich Sticht, Amber Begtrup et al. · Genetics in Medicine · 2020 · 58 citations · Full text

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer et al. · The American Journal of Human Genetics · 2020 · 47 citations · Full text

Developmental Biology, Cause Neurodevelopmental Delay, Genetic Disorder +9

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 · 39 citations · Full text

Medicine, Genetics, Pathology +9