Hatice Duzkale

发表

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

A systematic approach to assessing the clinical significance of genetic variants

Trevor J Pugh, H. Rehm, T. Pugh, 2013, Clinical genetics.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Andrew R. Grant, H. P. Kang, Marina T. DiStefano, 2019, Genetics in Medicine.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Andrew R. Grant, H. P. Kang, Marina T. DiStefano, 2018, Genetics in Medicine.

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

Andrew R. Grant, Marina T. DiStefano, H. Rehm, 2019, bioRxiv.

LDOC1, A NOVEL BIOMARKER OF PROGNOSIS IN CHRONIC LYMPHOCYTIC LEUKEMIA

H. Duzkale, Hatice Duzkale, 2011 .

Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

Matthew S. Lebo, H. Rehm, S. Sunyaev, 2015, Molecular genetics & genomic medicine.

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Hatice Duzkale, Hope Northrup, R. Lewis, 2006, Investigative ophthalmology & visual science.

LDOC1 mRNA is differentially expressed in chronic lymphocytic leukemia and predicts overall survival in untreated patients.

K. Coombes, B. Czerniak, Tadeusz Majewski, 2011, Blood.

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

J. Stoler, S. Kantarci, A. Lin, 2015, American journal of medical genetics. Part A.

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

Andrew R. Grant, Marina T. DiStefano, H. Rehm, 2019, Genetics in Medicine.

Bone marrow purging studies in acute myelogenous leukemia using the recombinant anti-CD33 immunotoxin HuM195/rGel.

D. Scheinberg, J. Reuben, E. Freireich, 2003, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.