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Alper Gezdirici

İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi

7 papers and 283 citations.

7Publications

283Total Citations

Top publicationsby citations

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

Angad Jolly, James R. Lupski, Feyza Darendelıler et al.|The Journal of Clinical Endocrinology & Metabolism|2019

Cited by 79

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Li Xin Zhang, Yuri A. Zárate, Gabrielle Lemire et al.|Genetics in Medicine|2020

Cited by 62

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Caroline Dias, Reza Maroofian, Jaya Punetha et al.|The American Journal of Human Genetics|2019

Cited by 58

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Claudia Gonzaga‐Jauregui, James R. Lupski, Gözde Yeşil et al.|European Journal of Human Genetics|2020

Cited by 39

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore Pottie, Bert Callewaert, Christin S. Adamo et al.|The American Journal of Human Genetics|2021

Cited by 33

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