Rotem Kadir

Ben-Gurion University of the Negev — Israel

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index978citations25works5.02yr avg
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Research Topics

Ion channel regulation and function(4), RNA Research and Splicing(4), RNA modifications and cancer(4), CRISPR and Genetic Engineering(3), Genetic Neurodegenerative Diseases(3)

Publications25 total

<i>ZNF142</i> mutation causes sex-dependent neurologic disorder
Journal of Medical Genetics·2024· 5 cited
CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice
Nature Communications·2021· 38 citedOpen Access
Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viability
Nature Communications·2019· 125 citedOpen Access
Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase
Journal of Clinical Investigation·2019· 46 citedOpen Access
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome
European Journal of Human Genetics·2019· 48 citedOpen Access
Regulation of CHD2 expression by the <i>Chaserr</i> long noncoding RNA is essential for viability
2019· 1 citedOpen Access
Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish
Brain·2019· 45 citedOpen Access
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe
American Journal of Medical Genetics Part A·2018· 7 cited
<i>SEC31A</i> mutation affects ER homeostasis, causing a neurological syndrome
Journal of Medical Genetics·2018· 46 cited
Nocturnal Atrial Fibrillation Caused by Mutation in <i>KCND2</i> , Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel
Circulation Genomic and Precision Medicine·2018· 30 citedOpen Access
Novel <i>SBF1</i> splice‐site null mutation broadens the clinical spectrum of Charcot‐Marie‐Tooth type 4B3 disease
Clinical Genetics·2018· 18 cited
Author response for "Novel &lt;i&gt;SBF1&lt;/i&gt; splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease"
2018Open Access
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3
Brain·2018· 32 citedOpen Access
A novel homozygous <i>SLC25A1</i> mutation with impaired mitochondrial complex V: Possible phenotypic expansion
American Journal of Medical Genetics Part A·2017· 20 cited
<i>PAX7</i>mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay
Human Mutation·2017· 19 cited
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
European Journal of Human Genetics·2017· 25 citedOpen Access
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome
Brain·2017· 100 citedOpen Access
PPARγ regulates exocrine pancreas lipase
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids·2016· 8 cited
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
PLoS Genetics·2016· 89 citedOpen Access
<i>UNC80</i> mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel <i>NALCN</i>
Journal of Medical Genetics·2015· 49 cited
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Frequent Co-authors

Ohad S. Birk(21), Yonatan Perez(18), Daniel Halpérin(11), Hagit Flusser(10), Zamir Shorer(9), Ohad Wormser(9), Yuval Yogev(8), Max Drabkin(8), Libe Gradstein(7), Idan Cohen(6), Michael Volodarsky(5), Sara Sivan(5), Barak Markus(4), Uri Abdu(4), Ruth Birk(4), Ilan Shelef(4), Ramon Y. Birnbaum(3), Regina Proskorovski‐Ohayon(3), Aviv Rom(2), Liliya Melamed(2)