Sibel Kantarci

Medical Genetics

1010 Veteran Avenue, West Medical Building
Ucla Clinical And Molecular Cytogenetics Laboratory
Los Angeles, CA 90024

Last Updated: 09/26/2026

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Found 16 publications

Response to Spurdle et al.

Response to Spurdle et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 20, 2023

Correction: 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).

Correction: 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).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 18, 2021

Response to Maya et al.

Response to Maya et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 25, 2020

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).

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).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 18, 2019

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 20, 2019

Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia.

Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia.

Journal: Cancer genetics

Published: May 15, 2018

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

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

Journal: American journal of human genetics

Published: June 19, 2016

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Journal: American journal of human genetics

Published: October 20, 2014

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Journal: JAMA

Published: October 19, 2014

An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.

An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.

Journal: Genes, chromosomes & cancer

Published: October 16, 2014

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Journal: JAMA neurology

Published: August 19, 2014

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.

Journal: American journal of medical genetics. Part A

Published: March 31, 2014

Showing 1-12 of 16

Last Updated: 09/26/2026