Publications
Filters: Author is Coban-Akdemir, Zeynep H [Clear All Filters]
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Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 ;24(4):784-797.
. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 ;24(3):631-644.
. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 ;149(2):758-766.
. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 ;137(4):493-499.
. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 ;41(2):487-501.
. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 ;130(8):4411-4422.
. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 ;369(6500):202-207.
. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 ;182(6):1387-1399.
. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 ;216(12):2778-2799.
. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018 ;103(5):794-807.
. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 ;132(1):89-100.
. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 ;102(6):1126-1142.
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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 ;170(9):2440-4.
. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 ;73(1):68-75.
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