R. Kadir

发表

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

Esti Yeger-Lotem, R. Ofir, O. Birk, 2018, Brain : a journal of neurology.

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

I. Ulitsky, I. Biton, Matan Golan, 2019, Nature Communications.

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

O. Birk, Y. Perez, U. Abdu, 2019, European Journal of Human Genetics.

Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

G. Narkis, D. Landau, K. Elbedour, 2013, European Journal of Human Genetics.

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

O. Birk, B. Markus, Y. Perez, 2013, European Journal of Human Genetics.

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

O. Birk, Y. Perez, A. Katz, 2018, Circulation. Genomic and precision medicine.

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

R. Zarivach, D. Landau, O. Birk, 2019, The Journal of clinical investigation.

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

E. Manor, K. Elbedour, O. Birk, 2018, American journal of medical genetics. Part A.

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

G. Rutter, R. Zarivach, O. Birk, 2017, Brain : a journal of neurology.

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

I. Ulitsky, I. Biton, Matan Golan, 2019, bioRxiv.

CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.

O. Birk, Y. Perez, R. Shaco‐Levy, 2015, Human molecular genetics.

Localization of the Drosophila Rad9 Protein to the Nuclear Membrane Is Regulated by the C-Terminal Region and Is Affected in the Meiotic Checkpoint

U. Abdu, Anna Bakhrat, R. Kadir, 2012, PloS one.

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

O. Birk, Y. Perez, E. Hershkovitz, 2017, Human mutation.

SEC31A mutation affects ER homeostasis, causing a neurological syndrome

O. Birk, I. Shelef, B. Rotblat, 2018, Journal of Medical Genetics.

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

O. Birk, I. Shelef, R. Birnbaum, 2019, Brain : a journal of neurology.

UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN

O. Birk, R. Birnbaum, Y. Perez, 2015, Journal of Medical Genetics.

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

O. Birk, B. Markus, T. Harel, 2016, PLoS genetics.

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

O. Birk, Y. Perez, E. Cohen, 2017, European Journal of Human Genetics.

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)

E. Leshinsky‐Silver, D. Lev, O. Birk, 2014, Journal of Medical Genetics.

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion

O. Birk, Ann Saada, Y. Perez, 2017, American journal of medical genetics. Part A.

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

O. Birk, B. Rotblat, G. Meiri, 2021, Nature Communications.

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

O. Birk, I. Shelef, Z. Shorer, 2018, Clinical genetics.

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

O. Birk, Y. Perez, U. Abdu, 2019, European Journal of Human Genetics.

PPARγ regulates exocrine pancreas lipase.

R. Birk, R. Kadir, Yael Ben‐Harosh, 2016, Biochimica et biophysica acta.

ZNF142 mutation causes sex-dependent neurologic disorder

O. Birk, Y. Perez, Z. Shorer, 2024, Journal of Medical Genetics.