Rotem Kadir

Beersheba, D, Israel

Last Updated: 09/26/2026

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Found 23 publications

ZNF142 mutation causes sex-dependent neurologic disorder.

ZNF142 mutation causes sex-dependent neurologic disorder.

Journal: Journal of medical genetics
Published: June 22, 2023

CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.

CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.

Journal: Nature communications
Published: May 13, 2020

Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.

Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.

Journal: The Journal of clinical investigation
Published: March 25, 2019

Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viability.

Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viability.

Journal: Nature communications
Published: February 22, 2019

Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel.

Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel.

Journal: Circulation. Genomic and precision medicine
Published: December 21, 2018

Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.

Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.

Journal: Clinical genetics
Published: July 08, 2018

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

Journal: American journal of medical genetics. Part A
Published: June 20, 2018

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.

Journal: Brain : a journal of neurology
Published: May 28, 2018

SEC31A mutation affects ER homeostasis, causing a neurological syndrome.

SEC31A mutation affects ER homeostasis, causing a neurological syndrome.

Journal: Journal of medical genetics
Published: May 25, 2018

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

Journal: European journal of human genetics : EJHG
Published: May 03, 2018

RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.

RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.

Journal: Brain : a journal of neurology
Published: September 07, 2017

PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.

PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.

Journal: Human mutation
Published: May 09, 2017
Showing 1-12 of 23

Last Updated: 09/26/2026