Ginat Narkis

Ben-Gurion University of the Negev — Israel

Medicine · Health Sciences

16h-index1.1kcitations28works3.02yr avg
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Research Topics

Neurogenetic and Muscular Disorders Research(4), Trypanosoma species research and implications(3), Lysosomal Storage Disorders Research(3), Biochemical and Molecular Research(3), Retinal Diseases and Treatments(2)

Publications28 total

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant
npj Genomic Medicine·2025Open Access
Severe neonatal hypotonia due to <scp><i>SLC30A5</i></scp> variant affecting function of <scp>ZnT5</scp> zinc transporter
JIMD Reports·2025· 1 citedOpen Access
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases
Journal of Human Genetics·2024· 1 citedOpen Access
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
Human Genetics·2024· 10 cited
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications
European Journal of Human Genetics·2023· 3 citedOpen Access
A Rare Variant in<i> PGAP2</i> Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers
BioMed Research International·2017· 12 citedOpen Access
The stage-dependent roles of Ldb1 and functional redundancy with Ldb2 in mammalian retinogenesis
Development·2016· 34 citedOpen Access
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred
BMC Medical Genetics·2016· 18 citedOpen Access
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A
European Journal of Human Genetics·2014· 22 citedOpen Access
Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
European Journal of Human Genetics·2013· 58 citedOpen Access
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1
Human Mutation·2012· 57 cited
<i>Isl1</i> and <i>Ldb</i> Co‐regulators of transcription are essential early determinants of mouse limb development
Developmental Dynamics·2012· 34 citedOpen Access
High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2
The American Journal of Human Genetics·2011· 111 citedOpen Access
Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy
The American Journal of Human Genetics·2010· 147 citedOpen Access
The Ldb1 transcriptional complex plays an essential role in regulating early mouse limb development
Developmental Biology·2009
Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ
The American Journal of Human Genetics·2008· 134 citedOpen Access
Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway
The American Journal of Human Genetics·2007· 69 citedOpen Access
Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway
The American Journal of Human Genetics·2007· 108 citedOpen Access
Genetics of Arthrogryposis
Clinical Orthopaedics and Related Research·2006· 18 cited
PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy
The American Journal of Human Genetics·2006· 192 citedOpen Access
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Frequent Co-authors

Ohad S. Birk(17), Rivka Ofir(8), Khalil Elbedour(7), Daniella Landau(7), Esther Manor(6), Hagit Flusser(5), Zamir Shorer(4), Noam Hadar(4), Ilan Shelef(3), Libe Gradstein(3), Yonatan Perez(3), Ruth Birk(3), Ohad Wormser(3), Vadim Dolgin(3), Amit Safran(3), Marina Eskin‐Schwartz(3), Shareef Khateeb(2), Aharon Galil(2), Dina Fine(2), Sara Sivan(2)