List of works - Ohad Birk

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

scientific article published on 8 October 2017

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta

scientific article published in April 2013

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

scientific article published on 12 February 2020

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

scientific article published on 15 September 2019

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

scientific article

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

scientific article published on 12 April 2019

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

scientific article published on 11 December 2017

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

scientific article

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

scientific article

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

scientific article published on 23 March 2016

An imported case of malaria resistant to chloroquine

scientific article published on September 1988

Analysis of free online physician advice services.

scientific article

Association analysis identifies ZNF750 regulatory variants in psoriasis.

scientific article

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

scientific article

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

scientific article published on 10 March 2020

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

scientific journal article

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

scientific article published on 26 October 2021

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

scientific article

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

scientific article published in January 2005

CSI-OMIM--Clinical Synopsis Search in OMIM.

scientific article

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

scientific article published on 01 March 2007

Coding exons function as tissue-specific enhancers of nearby genes

scientific article

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

scientific article published on 04 December 2018

Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds.

scientific article

DEGS1 variant causes neurological disorder

scientific article published on 11 June 2019

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

scientific article

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

article

Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies

scientific article published on 01 December 2009

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

scientific article published on 13 January 2009

Genetics of arthrogryposis: linkage analysis approach

scientific article published on 01 March 2007

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

scientific article published on 02 August 2018

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

scientific article

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

scientific article published on 01 October 2004

Hsp60 peptide therapy of NOD mouse diabetes induces a Th2 cytokine burst and downregulates autoimmunity to various beta-cell antigens

scientific article published on 01 May 1997

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

scientific article published on 01 December 2019

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

scientific article published on 18 September 2013

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

scientific article

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

scientific article

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

scientific article published on 01 January 2004

Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations

scientific article published on 01 November 2018

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

scientific article published on August 2008

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

scientific article

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

scientific article

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy ⬇️

scientific article published on October 8, 2010

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

scientific article published on 14 June 2017

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

scientific article published on 01 March 2019

Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency.

scientific article published on 4 April 2014

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

scientific article published on 01 November 2018

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta

scientific article published on 28 February 2015

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

scientific article

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

scientific article published on 09 August 2018

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

scientific article published on 4 August 2017

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

scientific article

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

scientific article

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome

scientific article published on 31 March 2020

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

scientific article

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

scientific article published on 7 March 2018

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

scientific article published on 17 July 2019

Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD.

scientific article published in March 2011

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

scientific article published on 9 February 2017

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

scientific article (publication date: July 2006)

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

scientific article published in March 2010

T-cell autoimmunity in type 1 diabetes mellitus.

scientific article published on December 1993

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation

scientific article published on 04 April 2019

The LIM homeobox gene Lhx9 is essential for mouse gonad formation

scientific journal article

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

scientific article published in 2022

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

scientific article published in March 2003

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

scientific article

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.

scientific article published on 6 November 2015

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

scientific article published on April 1991

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

scientific article published on 21 January 2013

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

scientific article published on 01 February 2004

[Genetic and phenotypic aspects of autosomal recessive polycystic kidney disease in southern Israel]

scientific article published on 01 July 2004

[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES]

scientific article published on 01 February 2019

List of works by Ohad Birk

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

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta

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

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

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

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

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

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

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

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

An imported case of malaria resistant to chloroquine

Analysis of free online physician advice services.

Association analysis identifies ZNF750 regulatory variants in psoriasis.

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

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

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

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

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

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

CSI-OMIM--Clinical Synopsis Search in OMIM.

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

Coding exons function as tissue-specific enhancers of nearby genes

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

Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds.

DEGS1 variant causes neurological disorder

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

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

Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies

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

Genetics of arthrogryposis: linkage analysis approach

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

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

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

Hsp60 peptide therapy of NOD mouse diabetes induces a Th2 cytokine burst and downregulates autoimmunity to various beta-cell antigens

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

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

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

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

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

Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations

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

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

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy ⬇️

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

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

Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency.

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

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta

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

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

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

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

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

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome

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

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

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

Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD.

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

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

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

T-cell autoimmunity in type 1 diabetes mellitus.

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation

The LIM homeobox gene Lhx9 is essential for mouse gonad formation

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

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

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

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.

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

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

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

[Genetic and phenotypic aspects of autosomal recessive polycystic kidney disease in southern Israel]

[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES]