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The Journal of Clinical Investigation|January 12, 2016
Molecular etiology of arthrogryposis in multiple families of mostly Turkish originYavuz Bayram, Ender Karaca, Zeynep Coban Akdemir, et al.HGG Advances|August 29, 2022
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variabilityRuizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, et al.American Journal of Human Genetics|November 8, 2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayMarie Morimoto, Helen Waller-Evans, Zineb Ammous, et al.Nature Communications|February 14, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishAleksandra Siekierska, Hannah Stamberger, Tine Deconinck, et al.Cell|April 29, 2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEnder Karaca, Stefan Weitzer, Davut Pehlivan, et al.American Journal of Human Genetics|June 25, 2019
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic InheritanceDavut Pehlivan, Yavuz Bayram, Nilay Gunes, et al.American Journal of Human Genetics|June 12, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon responseWallid Deb, Cory Rosenfelt, Virginie Vignard, et al.American Journal of Human Genetics|September 28, 2021
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish populationTadahiro Mitani, Sedat Isikay, Alper Gezdirici, et al.Neuron|November 6, 2015
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic DiseaseEnder Karaca, Tamar Harel, Davut Pehlivan, et al.Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.Pageof 3