Associate Professor, Pathology & Laboratory Medicine
Dr. Kantarci is an American Board of Medical Genetics (ABMG) certified Clinical Molecular Geneticist and Clinical Cytogeneticist who trained at Harvard Medical School. Dr. Kantarci was an Instructor in the Department of Pathology at Harvard Medical School and a Clinical Cytogenetics Director at Beth Israel Deaconess Medical Center between October 2007 and February 2012. She is an Associate Director of the UCLA Clinical Molecular Cytogenetics Laboratory and Associate Professor in the Department of Pathology and Laboratory Medicine at the David Geffen School of Medicine at UCLA since March 2012. She currently serves on the ClinGen Structural Variant Working Group (formerly the International Standards for Cytogenomic Arrays Consortium, or ISCA), the American College of Medical Genetics and Genomics (ACMG) Maintenance of Certification Committee, and the Clinical Quality Improvement and CP Education Committees in the Department of Pathology and Laboratory Medicine at UCLA. In her clinical research studies, she employs cutting-edge technologies, such as array-based comparative genomic hybridization (aCGH), single nucleotide polymorphism (SNP) arrays, and exome sequencing. Dr. Kantarci's research focuses on identifying genes/loci in idiopathic intellectual disability.
Jamuar SS, Duzkale H, Duzkale N, Zhang CS, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE. “Nablus mask-like facial syndrome: 4 additional cases add support that del 8q22.1 is necessary but not sufficient to cause the classic phenotype” Am J Med Genet A. 2015;167(6):1400-5
Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF. "De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay" Am J Hum Genet. 2015;96(3):498-506.
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. "Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders" JAMA. 2014; 312(18):1880-7.
Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. “Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia” JAMA Neurol. 2014;71(10):1237-46.
Amarillo IE, Li WL, Vilain E, Li X, Kantarci S. “A de novo intragenic deletion of AUST2 in a patient with autism spectrum disorder and foot deformity: further support for the role of AUTS2 in neurodevelopmental disorders and congenital malformations” Am J Med Genet A. 2014;164A(4):958-65.
Bissar Tadmouri N, Donahue WL, Al-Gazali L, Nelson SF, Bayrak-Toydemir P, Kantarci S. “X-chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings” Am J Med Genet A. 2014; 164(1): 164–69.
Kantarci S, Ackerman KG, Russell MN, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti-Vanmarcke R, Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR.” Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH” Am J Med Genet A. 2010; 152A(10):2493-504.
Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GCM, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. “Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai- Barrow and facio-oculo-acoustico-renal syndromes” Nat Genet. 2007 39(8); 957-959.
Consugar MB, Anderson SA, Rossetti S, Pankratz VS, Ward CJ, Torra R, Coto E, El-Youssef M, Kantarci S, Utsch B, Hildebrandt F, Sweeney WE, Avner ED, Torres VE, Cunningham JM, Harris PC. “Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease” Am J Kidney Dis. 2005;45(1):77-87
Savas S, Eraslan S, Kantarci S, Karaman B, Acarsoz D, Tu¨kel T, Cogulu O, Ozkinay F, Basaran S, Aydinli K, Yuksel-Apak M, Kirdar B. “Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families” Prenat Diagn. 2002;22(8):703-9.