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Sibel Kantarci | Researchclopedia

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Sibel Kantarci

51

Works

4,369

Citations

19

h-index

22

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Prenatal Screening and Diagnostics

Affiliations

Beth Israel Deaconess Medical Center2010–2013

Kaneka (United States)2007–2007

Harvard University2005–2013

University of California, Los Angeles2013–2018

Cold Spring Harbor Laboratory2005–2005

Top Works

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,et al.

20191,704 citations

Cancer Genomics and Diagnostics

Congenital Diaphragmatic Hernia Studies

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee,Joshua L. Deignan,et al.

2014978 citations

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

Sibel Kantarci,Lihadh Al‐Gazali,et al.

2007315 citations

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

Brent L. Fogel,Hane Lee,et al.

2014236 citations

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,et al.

2019169 citations

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Valerie A. Arboleda,Hane Lee,et al.

2015139 citations

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

Zehra Ordulu,Tammy Kammin,et al.

201697 citations

Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics

Sibel Kantarci,Patricia K. Donahoe

200790 citations

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

Sibel Kantarci,David Casavant,et al.

200578 citations