Alper Gezdirici - Concepedia

Author

Alper Gezdirici

İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi ORCID

Also Known As

A Gezdirici, A. Gezdirici, ALPER GEZDIRICI, Alper GEZDIRICI, Alper GEZDİRİCİ, Alper Gezdirici, Gezdirici Alper, Gezdirici, Alper, Joy Jayaseelan, Nathalie Canham

119

Publications

2.4K

Citations

H-Index

Concepts

All Affiliations

İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi Baylor College of Medicine Texas Children's Hospital Istanbul University Sağlık Bilimleri Üniversitesi

About

Alper Gezdirici is an author at İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	16	1.1K
2	Health Sciences	3	3	60
3	Language Studies	1	1	16
4	Natural Sciences	1	1	138
5	Public Health	1	1	87

Alper Gezdirici

Publications

2.1K

Citations

H-Index

Page 1

	Year	Citations
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Ender Karaca, Tamar Harel, Davut Pehli̇van, Neuron	2015	332
Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function Ender Karaca, Stefan Weitzer, Davut Pehli̇van, Cell Affecting Both PeripheralKnockout MouseGenome InstabilityMolecular NeuroscienceGenetics	2014	220
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects Niki T. Loges, Dinu Antony, Aleš Maver, The American Journal of Human Genetics ChromatinGenome InstabilityDevelopmental BiologyChromatin StructureMendelian Disorder	2018	138
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance Davut Pehli̇van, Yavuz Bayram, Nilay Güneş, The American Journal of Human Genetics Candidate GenesDevelopmental BiologyOligogenic InheritanceGenetic DisorderComplex Trait	2019	118
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Yavuz Bayram, Ender Karaca, Zeynep Coban‐Akdemir, Journal of Clinical Investigation	2016	110
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome Janson J. White, Juliana F. Mazzeu, Zeynep Coban‐Akdemir, The American Journal of Human Genetics Knockout MouseDevelopmental BiologyGenetic DisorderGeneticsGene Expression	2017	110
DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome Janson J. White, Juliana F. Mazzeu, Alexander Hoischen, The American Journal of Human Genetics Allelic Variant−1 FrameshiftDevelopmental BiologyMendelian DisorderGenetic Disorder	2016	108
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, The American Journal of Human Genetics Neurodevelopmental DisordersNeurological DisorderGenetic DisorderPediatricsHigh Prevalence	2021	98
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility Asaf Ta‐Shma, Rim Hjeij, Zeev Perles, PLoS Genetics GeneticsMolecular GeneticsDisease Gene IdentificationReproductive BiologyEpigenetics	2018	87
Phenotypic expansion in <i> <scp>DDX</scp> 3X </i> – a common cause of intellectual disability in females Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld, Annals of Clinical and Translational Neurology	2018	86

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