O. Birk

发表

Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13

D. Geiger, M. Fishelson, G. Narkis, 2004, American journal of medical genetics. Part A.

Syndrome to gene (S2G): in‐silico identification of candidate genes for human diseases

Avitan Gefen, O. Birk, Avitan Gefen, 2010, Human mutation.

Coding exons function as tissue-specific enhancers of nearby genes

G. Bejerano, C. Schwartz, A. Wenger, 2012, Genome research.

The LIM homeobox gene Lhx9 is essential for mouse gonad formation

O. Birk, Liping Zhao, J. Kreidberg, 2000, Nature.

Gene expression microarray profiles of cumulus cells in lean and overweight-obese polycystic ovary syndrome patients.

V. Chalifa-Caspi, R. Ofir, O. Birk, 2008, Molecular human reproduction.

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.

G. Narkis, D. Landau, E. Manor, 2007, American journal of human genetics.

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.

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

O. Birk, B. Markus, I. Shelef, 2011, European Journal of Human Genetics.

Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data

O. Birk, B. Markus, I. Alshafee, 2013, Heredity.

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.

TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews

O. Birk, S. Refetoff, A. Haim, 2021, European thyroid journal.

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.

Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred

O. Birk, R. Birk, M. Drabkin, 2018, BMC Medical 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.

DEGS1 variant causes neurological disorder

A. Zvulunov, O. Birk, Y. Barhum, 2019, European Journal of Human Genetics.

A role of Hsp60 in autoimmune diabetes: analysis in a transgenic model.

I. Cohen, D. Douek, O. Birk, 1996, Proceedings of the National Academy of Sciences of the United States of America.

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture

L. Leinwand, O. Birk, I. Shelef, 2016, BMC Medical Genetics.

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

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

NOD mouse diabetes: the ubiquitous mouse hsp60 is a beta-cell target antigen of autoimmune T cells.

I. Cohen, O. Birk, A. Weiss, 1996, Journal of autoimmunity.

Vaccination against autoimmune mouse diabetes with a T-cell epitope of the human 65-kDa heat shock protein.

I. Cohen, O. Birk, R. van der Zee, 1991, Proceedings of the National Academy of Sciences of the United States of America.

High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.

G. Narkis, K. Elbedour, R. Ofir, 2011, American journal of human genetics.

PSMC1 variant causes a novel neurological syndrome

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

Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome.

O. Birk, D. Landau, H. Shalev, 2003, The Journal of pediatrics.

Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.

D. Söll, E. Leshinsky‐Silver, D. Lev, 2010, American journal of human genetics.

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1

G. Narkis, D. Landau, O. Birk, 2012, Human mutation.

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

O. Birk, B. Markus, I. Shelef, 2010, American journal of human genetics.

Looking for the skeleton in the closet—rare genetic diagnoses in patients with diabetes and skeletal manifestations

O. Birk, L. Zeitlin, A. Brener, 2022, Acta Diabetologica.

ZNF750 Is Expressed in Differentiated Keratinocytes and Regulates Epidermal Late Differentiation Genes

O. Birk, R. Taube, R. Birnbaum, 2012, PloS one.

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.

A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome

O. Birk, M. Kabra, N. Gupta, 2022, Annals of human genetics.

Selenocysteinopathies: progressive cerebello–cerebral atrophy and other diseases of the 21st amino acid, selenocysteine

O. Birk, 2011 .

Congenital Glaucoma: CYP1B1 Mutations in Israeli Bedouin Kindreds

K. Elbedour, R. Ofir, R. Carmi, 2010, Journal of glaucoma.

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

D. Sharon, G. Narkis, O. Birk, 2016, BMC Medical Genetics.

CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds

R. Ofir, O. Birk, T. Harel, 2004, Human Genetics.

PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

Rachel Levy, Rivka Ofir, Ilan Shelef, 2006, American journal of human genetics.

Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein

D. Geiger, A. Zvulunov, R. Ofir, 2006, Nature Genetics.

Association analysis identifies ZNF750 regulatory variants in psoriasis

P. Kwok, O. Birk, W. Liao, 2011, BMC Medical Genetics.

Carnitine-acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient

O. Birk, D. Galron, E. Hershkovitz, 2004, Journal of Inherited Metabolic Disease.

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

O. Birk, M. Volodarsky, U. Zilberman, 2015, Archives of oral biology.

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

A. Fulton, N. Schalij-Delfos, O. Birk, 2022, Investigative ophthalmology & visual science.

Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.

V. Sheffield, O. Birk, B. Markus, 2013, The Journal of clinical endocrinology and metabolism.

Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.

Rivka Ofir, Idan Cohen, D. Landau, 2012, American journal of human genetics.

Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.

C. Supuran, D. Landau, R. Ofir, 2010, American journal of human genetics.

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.

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

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

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.

G. Narkis, R. Ofir, O. Birk, 2008, American journal of human genetics.

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

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

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.

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

D. Landau, O. Birk, B. Markus, 2013, Human mutation.

T-cell autoimmunity in type 1 diabetes mellitus.

I. Cohen, O. Birk, 1993, Current opinion in immunology.

Genetics of Arthrogryposis: Linkage Analysis Approach

G. Narkis, D. Landau, E. Manor, 2007, Clinical orthopaedics and related research.

Integration of SNP genotyping confidence scores in IBD inference

Dan Geiger, Barak Markus, Ohad S. Birk, 2011, Bioinform..

Hsp60 Peptide Therapy of NOD Mouse Diabetes Induces a Th2 Cytokine Burst and Downregulates Autoimmunity to Various β-Cell Antigens

Irun R Cohen, I. Cohen, O. Birk, 1997, Diabetes.

Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest

N. Niikawa, O. Birk, N. Matsumoto, 2006, Journal of Human Genetics.

A tissue-aware machine learning framework enhances the mechanistic understanding and genetic diagnosis of Mendelian and rare diseases

Chanan M. Argov, L. Rokach, H. Im, 2021, bioRxiv.

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

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

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation

R. Ofir, O. Birk, T. Harel, 2004, European Journal of Human Genetics.

X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome

O. Birk, A. Nahum, R. Schreiber, 2023, European Journal of Human Genetics.

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

R. Grimalt, C. Fischer, O. Birk, 2022, JAMA dermatology.

A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

O. Birk, M. Volodarsky, Yshaia Langer, 2014, BMC Medical Genetics.

Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center

O. Birk, N. Loewenthal, A. Haim, 2022, Frontiers in Pediatrics.

Co‐morbidity of Emery–Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred

O. Birk, T. Harel, G. Ifergane, 2007, European journal of neurology.

SEC31A mutation affects ER homeostasis, causing a neurological syndrome

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

Human Mutation

I. Perlman, N. Shomron, D. Sharon, 2019 .

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

O. Birk, N. Loewenthal, B. Yerushalmi, 2020, Clinical genetics.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

D. Nickerson, M. Bamshad, R. Roepman, 2017, American journal of human genetics.

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

R. Ofir, O. Birk, O. Barel, 2008, American journal of human genetics.

Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations

O. Birk, Y. Perez, R. Shaco‐Levy, 2018, Journal of pediatric hematology/oncology.

A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.

D. Landau, O. Birk, H. Shalev, 2004, Molecular genetics and metabolism.

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.

R. Ofir, R. Carmi, O. Birk, 2007, Investigative ophthalmology & visual science.

The 60-kDa heat shock protein modulates allograft rejection.

I. Cohen, O. Birk, D. Altmann, 1999, Proceedings of the National Academy of Sciences of the United States of America.

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.

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.

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.

Deletion of the first pair of fibronectin type III repeats of the integrin β‐4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients

D. Landau, K. Elbedour, R. Ofir, 2008, American journal of medical genetics. Part A.

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

I. Perlman, N. Shomron, D. Sharon, 2020, Human mutation.

Analysis of Free Online Physician Advice Services

Michael Elhadad, Raphael Cohen, Michael Elhadad, 2013, PloS one.

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

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

Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation

O. Birk, A. Nahum, G. Ling, 2022, Immunologic Research.

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

S. Almashanu, E. Eyal, O. Birk, 2019, Front. Immunol..

Web and social media searches highlight menstrual irregularities as a global concern in COVID-19 vaccinations

Ariel Katz, O. Birk, A. Eran, 2022, Scientific Reports.

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.

COL11A2 mutation associated with autosomal recessive Weissenbacher–Zweymuller syndrome: Molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)

K. Elbedour, R. Ofir, O. Birk, 2005, 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.

GeniePool: genomic database with corresponding annotated samples based on a cloud data lake architecture

S. Dolev, O. Birk, E. Gudes, 2023, Database J. Biol. Databases Curation.

Predicting molecular mechanisms of hereditary diseases by using their tissue‐selective manifestation

Chanan M. Argov, L. Rokach, H. Im, 2023, Molecular systems biology.

Natural History and Clinical Manifestations of Hyponatremia and Hyperchlorhidrosis due to Carbonic Anhydrase XII Deficiency

O. Birk, N. Loewenthal, B. Yerushalmi, 2014, Hormone Research in Paediatrics.

Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome

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

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.

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

G. Narkis, O. Birk, B. Markus, 2014, European Journal of Human Genetics.

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.

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.

X‐linked spondyloepiphyseal dysplasia tarda: A novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations

R. Ofir, O. Birk, E. Hershkovitz, 2004, American journal of medical genetics. Part A.

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.

STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications

G. Narkis, O. Birk, S. Amar, 2023, European Journal of Human Genetics.

Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.

G. Narkis, D. Landau, E. Manor, 2007, American journal of human genetics.

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

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

Syndrome to gene (S2G): in‐silico identification of candidate genes for human diseases

O. Birk, Avitan Gefen, R. Cohen, 2010, Human mutation.

CSI-OMIM - Clinical Synopsis Search in OMIM

Michael Elhadad, Raphael Cohen, Avitan Gefen, 2011, BMC Bioinformatics.

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.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

D. Nickerson, M. Bamshad, R. Roepman, 2017, American journal of human genetics.

ZNF142 mutation causes sex-dependent neurologic disorder

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

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

O. Birk, M. Volodarsky, U. Zilberman, 2015, Archives of oral biology.

De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia

O. Birk, L. Gradstein, Y. Yogev, 2023, Clinical genetics.

Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.

O. Birk, Y. Yogev, N. Hadar, 2024, European journal of human genetics : EJHG.