Sibel Kantarci

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.7K citations · Full text

Clinical Genome Resource, Genetic Testing, Technical Standards +13

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 969 citations · Full text

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Sibel Kantarci, Lihadh Al‐Gazali, R. Sean Hill et al. · Nature Genetics · 2007 · 315 citations · Full text

Glomerulonephritis, Urology, Mendelian Disorder +10

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

Brent L. Fogel, Hane Lee, Joshua L. Deignan et al. · JAMA Neurology · 2014 · 235 citations · Full text

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Lora Jh Bean, Birgit Funke, Colleen M. Carlston et al. · Genetics in Medicine · 2019 · 152 citations · Full text

Technical Standard, Dna Sequencing, Medicine +11