Publications
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels. Blood. 2024 ;143(18):1845-1855.
. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 ;110(4):681-690.
. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 ;24(3):631-644.
. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 ;137(9):689-703.
. Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 2018 ;553(7686):77-81.
. Rare and low-frequency coding variants alter human adult height. Nature. 2017 ;542(7640):186-190.
. The genome of the sea urchin Strongylocentrotus purpuratus. Science. 2006 ;314(5801):941-52.
. Comparison of cell adhesion molecule expression between glioblastoma multiforme and autologous normal brain tissue. J Neuroimmunol. 1995 ;57(1-2):143-53.
. . Loss of alpha 1 beta 1 and reduced expression of other beta 1 integrins and CAM in lung adenocarcinoma compared with pneumocytes. J Surg Oncol. 1994 ;56(3):198-208.
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