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Biorxiv : the Preprint Server for Biology|March 3, 2023
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertilityJae Yeon Hwang, Pengxin Chai, Shoaib Nawaz, et al.
Elife|December 13, 2023
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertilityJae Yeon Hwang, Pengxin Chai, Shoaib Nawaz, et al.
The Journal of Investigative Dermatology|November 15, 2014
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital DysplasiaLynn M Boyden, Brittany G Craiglow, Jing Zhou, et al.
Genes, Chromosomes & Cancer|August 24, 2018
Clonal evolution analysis of paired anaplastic and well-differentiated thyroid carcinomas reveals shared common ancestorWeilai Dong, Norman G Nicolson, Jungmin Choi, et al.
Molecular Genetics & Genomic Medicine|April 28, 2022
Mutation spectrum of congenital heart disease in a consanguineous Turkish populationWeilai Dong, Hande Kaymakcalan, Sheng Chih Jin, et al.
Journal of Child Neurology|January 30, 2010
Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI)Zulfikar Arlier, Yasar Bayri, Luis E Kolb, et al.
Iscience|March 9, 2026
Distinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomasChang Li, E Zeynep Erson-Omay, Yavuz Koksal, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|July 24, 2015
Mutation in GM2A Leads to a Progressive Chorea-dementia SyndromeMustafa A Salih, Mohammed Z Seidahmed, Heba Y El Khashab, et al.
Neurogenetics|March 7, 2008
Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish populationBeyhan Tüysüz, Fatih Bayrakli, Michael L DiLuna, et al.
Frontiers in Neurology|March 16, 2026
Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approachesAyca Yigit, Ozlem Akgun-Dogan, Zeynep Ozkeserli, et al.
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