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European Journal of Medical Genetics|September 18, 2016
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetusMehmet Burak Mutlu, Arda Cetinkaya, Nermin Koc, et al.Turkish Journal of Obstetrics and Gynecology|May 11, 2026
Mutation analysis of the FOXL2 and BMP15 genes in patients with premature ovarian insufficiencyMehmet Burak Mutlu, Vehap Topçu, Şerife Esra Çetinkaya, et al.BMC Cancer|November 3, 2025
Pilot evaluation of optical genome mapping in chronic lymphocytic leukemia: complementing FISH analysisSimge Erdem, Ayşe Gül Bayrak Tokaç, Aynur Aday, et al.Clinical Genetics|October 22, 2024
Utility of Optical Genome Mapping in Repeat DisordersMehmet Burak Mutlu, Taner Karakaya, Hamide Betül Gerik Çelebi, et al.Neurogenetics|May 31, 2025
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosisAslihan Kiraz, Murat Erdogan, Burhan Balta, et al.Journal of Medical Genetics|April 16, 2026
Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathiesSanem Yilmaz, Enise Avci Durmusalioglu, Dilara Ece Toprak Dogan, et al.Human Mutation|June 15, 2026
Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental DisordersMehmet Burak Mutlu, Özge Beyza Gündoğdu Öğütlü, Özlem Öz, et al.Research and Practice in Thrombosis and Haemostasis|June 9, 2025
Clinical and laboratory aspects of patients diagnosed with various inherited platelet disordersVeysel Gök, Alper Ozcan, Fatma Türkan Mutlu, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|February 11, 2026
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndromeBusra Aynekin, Tracy Lau, Rauan Kaiyrzhanov, et al.Medrxiv : the Preprint Server for Health Sciences|August 12, 2025
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, et al.Pageof 3