O. Wormser

发表

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.

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.

Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report

O. Birk, H. Flusser, O. Wormser, 2020, neurogenetics.

Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain (IL6R) immunodeficiency.

A. Nahum, H. Dadi, C. Roifman, 2019, The Journal of allergy and clinical immunology.

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

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

PSMC1 variant causes a novel neurological syndrome

R. Zarivach, O. Birk, U. Abdu, 2022, Clinical genetics.

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.

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe

S. Almashanu, B. Pode-Shakked, Ann Saada, 2021, Genes.

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

T. Dierks, O. Birk, C. Ferreira, 2020, Molecular genetics & genomic medicine.

Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy

O. Birk, Y. Fellig, Yael Feinstein, 2022, Molecular Diagnosis & Therapy.

SEC31A mutation affects ER homeostasis, causing a neurological syndrome

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

The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency

I. Shelef, B. Pode-Shakked, Y. Anikster, 2021, Nutrients.

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.

B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

O. Birk, C. Ferreira, I. Morag, 2020, Clinical genetics.

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

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

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

D. Sharon, E. Pras, E. Banin, 2018, European Journal of Human Genetics.

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation

E. Manor, O. Birk, C. Ferreira, 2019, American journal of medical genetics. Part A.

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.

Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome

O. Birk, I. Shelef, Z. Shorer, 2020, American journal of medical genetics. Part A.

SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice

O. Birk, I. Shelef, K. Avraham, 2023, Journal of Medical Genetics.

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

G. Narkis, O. Birk, Y. Perez, 2017, BioMed research international.

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

D. Sharon, E. Pras, E. Banin, 2018, European Journal of Human Genetics.

Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis

O. Birk, S. Bonaccorsi, M. Gatti, 2020, Journal of Medical 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.

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3

O. Birk, I. Shelef, H. Flusser, 2022, Clinical genetics.

A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I

D. Landau, O. Birk, H. Shalev, 2019, Annals of Human Genetics.

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone

R. Zarivach, O. Birk, I. Shelef, 2023, Proceedings of the National Academy of Sciences of the United States of America.

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

O. Birk, Y. Perez, G. Akler, 2023, NPJ genomic medicine.

A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma

O. Birk, M. Shlapobersky, N. Asna, 2024, Journal of medical virology.