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Human Genetics|June 11, 2014
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndromeMariëlle Alders, Lihadh Al-Gazali, Isabelle Cordeiro, 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.Neurogenetics|January 19, 2010
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophyLuis E Kolb, Zulfikar Arlier, Cengiz Yalcinkaya, et al.Nature Genetics|May 1, 2007
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophyPhilip L Beales, Elizabeth Bland, Jonathan L Tobin, et al.Fetal Diagnosis and Therapy|February 12, 2024
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis ImperfectaLeyli Senturk, Cagri Gulec, Tugba Sarac Sivrikoz, et al.Brain & Development|October 2, 2009
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalaciaJörn Oliver Sass, Aysegul Gunduz, Carolina Araujo Rodrigues Funayama, et al.Clinical Genetics|December 29, 2021
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndromeNur Canpolat, Dingxiao Liu, Emine Atayar, et al.Developmental Cell|November 19, 2019
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause MicrocephalyNichole Link, Hyunglok Chung, Angad Jolly, et al.Proceedings of the National Academy of Sciences of the United States of America|January 30, 2013
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegenerationKaya Bilguvar, Navneet K Tyagi, Cigdem Ozkara, et al.American Journal of Human Genetics|May 3, 2011
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesisMehmet Bakircioglu, Ofélia P Carvalho, Maryam Khurshid, et al.Pageof 5