Ohad Birk
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(Suggest an Edit or Addition)According to Wikipedia, Ohad Birk, a physician-scientist, is a professor of human genetics, converging basic scientific research with effective clinical translational applications. Birk's research lab deciphered the molecular basis and mechanism of more than 30 human diseases, including some of the most prevalent severe hereditary diseases in Arabs and in Jews, as well as three syndromes named after Birk. He also implemented his scientific findings in massive carrier testing programs, conducive to 30% reduction in infant mortality rate in the Bedouin community, as well as near-eradication of two of the most common severe hereditary diseases in Sephardic Jews. Birk heads the clinical Genetics Institute at Soroka Medical Center and the Morris Kahn Laboratory of Human Genetics as well as Israel's National Research Center for Orphan / Rare Diseases at Ben Gurion University, and served as director of Israel's National Institute of Biotechnology in the Negev between 2016 and 2017.
Ohad Birk's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Vaccination against autoimmune mouse diabetes with a T-cell epitope of the human 65-kDa heat shock protein. (1991) (415)
- The LIM homeobox gene Lhx9 is essential for mouse gonad formation (2000) (369)
- Hsp60 Peptide Therapy of NOD Mouse Diabetes Induces a Th2 Cytokine Burst and Downregulates Autoimmunity to Various β-Cell Antigens (1997) (205)
- Coding exons function as tissue-specific enhancers of nearby genes (2012) (197)
- PLA2G6 mutation underlies infantile neuroaxonal dystrophy. (2006) (179)
- Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. (2008) (167)
- Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. (2010) (129)
- A role of Hsp60 in autoimmune diabetes: analysis in a transgenic model. (1996) (128)
- Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. (2008) (118)
- Gene expression microarray profiles of cumulus cells in lean and overweight-obese polycystic ovary syndrome patients. (2008) (103)
- NOD mouse diabetes: the ubiquitous mouse hsp60 is a beta-cell target antigen of autoimmune T cells. (1996) (97)
- Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. (2003) (97)
- High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. (2011) (93)
- Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. (2007) (88)
- CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds (2004) (83)
- Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C. (2012) (79)
- A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta (2013) (77)
- The 60-kDa heat shock protein modulates allograft rejection. (1999) (77)
- Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. (2010) (74)
- Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein (2006) (70)
- Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. (2007) (68)
- Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. (2007) (66)
- Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. (2017) (65)
- VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2) (2014) (64)
- A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC) (2020) (64)
- ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size (2016) (63)
- Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase (2013) (58)
- SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome (2017) (56)
- Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. (2013) (48)
- Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest (2006) (48)
- Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation (2013) (46)
- Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1 (2012) (45)
- 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 (2015) (44)
- The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter (2011) (43)
- Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. (2010) (39)
- ZNF750 Is Expressed in Differentiated Keratinocytes and Regulates Epidermal Late Differentiation Genes (2012) (38)
- Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation (2004) (36)
- COL11A2 mutation associated with autosomal recessive Weissenbacher–Zweymuller syndrome: Molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED) (2005) (34)
- SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome (2019) (28)
- Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish (2019) (27)
- 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 (2008) (25)
- SEC31A mutation affects ER homeostasis, causing a neurological syndrome (2018) (24)
- Syndrome to gene (S2G): in‐silico identification of candidate genes for human diseases (2010) (24)
- Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data (2013) (22)
- T-cell autoimmunity in type 1 diabetes mellitus. (1993) (22)
- Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13 (2004) (21)
- A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. (2004) (19)
- Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred (2016) (19)
- RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3 (2018) (18)
- A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex (2014) (17)
- Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (&agr;) Subunit of the Cardiac Kv4.2 Potassium Channel (2018) (17)
- CSI-OMIM - Clinical Synopsis Search in OMIM (2011) (16)
- Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture (2016) (16)
- A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A (2014) (16)
- Genetics of Arthrogryposis: Linkage Analysis Approach (2007) (15)
- Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase. (2019) (15)
- Association analysis identifies ZNF750 regulatory variants in psoriasis (2011) (14)
- DEGS1 variant causes neurological disorder (2019) (14)
- Natural History and Clinical Manifestations of Hyponatremia and Hyperchlorhidrosis due to Carbonic Anhydrase XII Deficiency (2014) (14)
- Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred (2018) (13)
- Congenital Glaucoma: CYP1B1 Mutations in Israeli Bedouin Kindreds (2010) (12)
- Progressive hereditary spastic paraplegia caused by a homozygous KY mutation (2017) (12)
- Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta. (2015) (11)
- Integration of SNP genotyping confidence scores in IBD inference (2011) (11)
- Analysis of Free Online Physician Advice Services (2013) (11)
- A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion (2017) (11)
- PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay (2017) (10)
- X‐linked spondyloepiphyseal dysplasia tarda: A novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations (2004) (9)
- CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. (2015) (8)
- A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers (2017) (8)
- Carnitine-acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient (2004) (8)
- Novel SBF1 splice‐site null mutation broadens the clinical spectrum of Charcot‐Marie‐Tooth type 4B3 disease (2018) (7)
- Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation (2019) (7)
- TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation (2019) (6)
- Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals. (2022) (6)
- Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome (2020) (5)
- Web and social media searches highlight menstrual irregularities as a global concern in COVID-19 vaccinations (2022) (5)
- Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations (2018) (5)
- Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy (2020) (5)
- The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences (2022) (4)
- CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice (2021) (4)
- B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature (2020) (4)
- Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis (2020) (3)
- [THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES]. (2019) (3)
- A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency (2020) (3)
- Co‐morbidity of Emery–Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred (2007) (2)
- A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I (2019) (2)
- Looking for the skeleton in the closet—rare genetic diagnoses in patients with diabetes and skeletal manifestations (2022) (2)
- [Genetic and phenotypic aspects of autosomal recessive polycystic kidney disease in southern Israel]. (2004) (2)
- Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation (2022) (1)
- Hyperinsulinism / hyperammonemia syndrome caused by biallelic SLC25A36 mutation. (2023) (1)
- Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report (2020) (1)
- Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD (2011) (1)
- Selenocysteinopathies: progressive cerebello–cerebral atrophy and other diseases of the 21st amino acid, selenocysteine (2011) (1)
- Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center (2022) (1)
- A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome (2022) (0)
- X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome (2023) (0)
- Asymptomatic Familial Hyperprolactinemia Caused by a Unique bi-Allelic Variant in the Prolactin-Receptor Gene (2023) (0)
- Program/Abstract # 399Characterization of novel genes involved in early neurogenesis in the developing neural tube (2009) (0)
- Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy (2022) (0)
- A tissue-aware machine learning framework enhances the mechanistic understanding and genetic diagnosis of Mendelian and rare diseases (2021) (0)
- Differential Gene Expression in Cultured Human Cumulus Cells From Polycystic Ovary Syndrome (PCOS) (2005) (0)
- TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews (2021) (0)
- Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe (2018) (0)
- autoimmunity reducing the severity of host-versus-graft reaction by suppressing the hsp60 (1997) (0)
- SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome (2019) (0)
- ZNF750 is a nuclear protein whose promoter sequence variants are found in psoriasis patients (2010) (0)
- STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications. (2023) (0)
- Human Mutation (2019) (0)
- A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3 (2022) (0)
- Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. (2023) (0)
- PSMC1 variant causes a novel neurological syndrome (2022) (0)
- DEGS1 variant causes neurological disorder (2019) (0)
- Author response for "B4GALT1‐CDG: Expansion of the phenotypic and molecular spectrum and review of the literature" (2020) (0)
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