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  1. Analyzing large-scale genomic data with cloud data lakes

    Article • June 2023, ACM (Association for Computing Machinery)

    Ohad Birk

  2. Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation

    Article • Journal of Inherited Metabolic Disease, February 2023, Wiley

    Ohad Birk

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

    Article • Proceedings of the National Academy of Sciences, February 2023, Proceedings of the National Academy of Sciences

    Ohad Birk

  4. X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome

    Article • European Journal of Human Genetics, January 2023, Springer Science + Business Media

    Ohad Birk

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

    Article • JAMA Dermatology, November 2022, American Medical Association (AMA)

    Ohad Birk

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

    Article • Scientific Reports, October 2022, Springer Science + Business Media

    Ohad Birk

  7. PSMC1 variant causes a novel neurological syndrome

    Article • Clinical Genetics, August 2022, Wiley

    Ohad Birk

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

    Article • Frontiers in Pediatrics, July 2022, Frontiers

    Ohad Birk

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

    Article • Molecular Diagnosis & Therapy, July 2022, Springer Science + Business Media

    Ohad Birk

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

    Article • Immunologic Research, July 2022, Springer Science + Business Media

    Ohad Birk

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

    Article • Clinical Genetics, May 2022, Wiley

    Ohad Birk

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

    Article • Annals of Human Genetics, April 2022, Wiley

    Ohad Birk

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

    Article • Acta Diabetologica, February 2022, Springer Science + Business Media

    Ohad Birk

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

    Article • European Thyroid Journal, February 2022, Bioscientifica

    Ohad Birk

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

    Article • Investigative Ophthalmology & Visual Science, January 2022, Association for Research in Vision and Ophthalmology (ARVO)

    Ohad Birk

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

    Article • Nature Communications, October 2021, Springer Science + Business Media

    Ohad Birk

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

    Article • Clinical Genetics, August 2020, Wiley

    Ohad Birk

  18. Absence of SCAPER causes male infertility in humans andDrosophilaby modulating microtubule dynamics during meiosis

    Article • Journal of Medical Genetics, June 2020, BMJ

    Ohad Birk

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

    Article • Neurogenetics, June 2020, Springer Science + Business Media

    Ohad Birk

  20. Phenotypic variability and mutation hotspot in COX15 ‐related Leigh syndrome

    Article • American Journal of Medical Genetics Part A, March 2020, Wiley

    Ohad Birk

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

    Article • Clinical Genetics, March 2020, Wiley

    Ohad Birk

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

    Article • Molecular Genetics & Genomic Medicine, February 2020, Wiley

    Ohad Birk

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

    Article • Journal of Clinical Investigation, October 2019, American Society for Clinical Investigation

    Ohad Birk

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

    Article • Human Mutation, September 2019, Hindawi Publishing Corporation

    Ohad Birk

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

    Article • Frontiers in Immunology, July 2019, Frontiers

    Ohad Birk

  26. DEGS1 variant causes neurological disorder

    Article • European Journal of Human Genetics, June 2019, Springer Science + Business Media

    Ohad Birk

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

    Article • Annals of Human Genetics, April 2019, Wiley

    Ohad Birk

  28. TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation

    Article • American Journal of Medical Genetics Part A, April 2019, Wiley

    Ohad Birk

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

    Article • European Journal of Human Genetics, February 2019, Springer Science + Business Media

    Ohad Birk

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

    Article • Brain, January 2019, Oxford University Press (OUP)

    Ohad Birk

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

    Article • American Journal of Medical Genetics Part A, December 2018, Wiley

    Ohad Birk

  32. SEC31A mutation affects ER homeostasis, causing a neurological syndrome

    Article • Journal of Medical Genetics, November 2018, BMJ

    Ohad Birk

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

    Article • Circulation Genomic and Precision Medicine, November 2018, Wolters Kluwer Health

    Ohad Birk

  34. Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations

    Article • Journal of Pediatric Hematology/Oncology, November 2018, Wolters Kluwer Health

    Ohad Birk

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

    Article • Clinical Genetics, August 2018, Wiley

    Ohad Birk

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

    Article • BMC Medical Genetics, August 2018, Springer Science + Business Media

    Ohad Birk

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

    Article • European Journal of Human Genetics, April 2018, Springer Science + Business Media

    Ohad Birk

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

    Article • Brain, March 2018, Oxford University Press (OUP)

    Ohad Birk

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

    Article • American Journal of Medical Genetics Part A, December 2017, Wiley

    Ohad Birk

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

    Article • Human Mutation, September 2017, Wiley

    Ohad Birk

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

    Article • The American Journal of Human Genetics, July 2017, Elsevier

    Ohad Birk

  42. Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

    Article • European Journal of Human Genetics, May 2017, Springer Science + Business Media

    Ohad Birk

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

    Article • Brain, February 2017, Oxford University Press (OUP)

    Ohad Birk

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

    Article • BioMed Research International, January 2017, Hindawi Publishing Corporation

    Ohad Birk

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

    Article • BMC Medical Genetics, August 2016, Springer Science + Business Media

    Ohad Birk

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

    Article • BMC Medical Genetics, July 2016, Springer Science + Business Media

    Ohad Birk

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

    Article • PLoS Genetics, March 2016, PLOS

    Ohad Birk

  48. UNC80mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channelNALCN

    Article • Journal of Medical Genetics, November 2015, BMJ

    Ohad Birk

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

    Article • Human Molecular Genetics, September 2015, Oxford University Press (OUP)

    Ohad Birk

  50. Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta

    Article • Archives of Oral Biology, June 2015, Elsevier

    Ohad Birk

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

    Article • European Journal of Human Genetics, November 2014, Springer Science + Business Media

    Ohad Birk

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

    Article • BMC Medical Genetics, September 2014, Springer Science + Business Media

    Ohad Birk

  53. VPS53mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)

    Article • Journal of Medical Genetics, February 2014, BMJ

    Ohad Birk

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

    Article • Hormone Research in Paediatrics, January 2014, Karger Publishers

    Ohad Birk

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

    Article • Heredity, October 2013, Springer Science + Business Media

    Ohad Birk

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

    Article • European Journal of Human Genetics, September 2013, Springer Science + Business Media

    Ohad Birk

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

    Article • European Journal of Human Genetics, July 2013, Springer Science + Business Media

    Ohad Birk

  58. Analysis of Free Online Physician Advice Services

    Article • PLoS ONE, March 2013, PLOS

    Ohad Birk

  59. Varied Clinical Presentations of Seven Patients With Mutations inCYP11A1Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc

    Article • The Journal of Clinical Endocrinology & Metabolism, February 2013, Endocrine Society

    Ohad Birk

  60. A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

    Article • Human Mutation, January 2013, Wiley

    Ohad Birk

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

    Article • PLoS ONE, August 2012, PLOS

    Ohad Birk

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

    Article • Human Mutation, June 2012, Hindawi Publishing Corporation

    Ohad Birk

  63. Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C

    Article • The American Journal of Human Genetics, May 2012, Elsevier

    Ohad Birk

  64. Coding exons function as tissue-specific enhancers of nearby genes

    Article • Genome Research, March 2012, Cold Spring Harbor Laboratory Press

    Ohad Birk

  65. Association analysis identifies ZNF750 regulatory variants in psoriasis

    Article • BMC Medical Genetics, December 2011, Springer Science + Business Media

    Ohad Birk

  66. High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2

    Article • The American Journal of Human Genetics, September 2011, Elsevier

    Ohad Birk

  67. Integration of SNP genotyping confidence scores in IBD inference

    Article • Bioinformatics, August 2011, Oxford University Press (OUP)

    Ohad Birk

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

    Article • European Journal of Human Genetics, May 2011, Springer Science + Business Media

    Ohad Birk

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

    Article • The American Journal of Human Genetics, March 2011, Elsevier

    Ohad Birk

  70. CSI-OMIM - Clinical Synopsis Search in OMIM

    Article • BMC Bioinformatics, March 2011, Springer Science + Business Media

    Ohad Birk

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

    Article • Future Neurology, March 2011, Future Medicine

    Ohad Birk

  72. Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

    Article • The American Journal of Human Genetics, December 2010, Elsevier

    Ohad Birk

  73. Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII

    Article • The American Journal of Human Genetics, November 2010, Elsevier

    Ohad Birk

  74. Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

    Article • The American Journal of Human Genetics, October 2010, Elsevier

    Ohad Birk

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

    Article • Human Mutation, March 2010, Hindawi Publishing Corporation

    Ohad Birk

  76. Congenital Glaucoma

    Article • Journal of Glaucoma, January 2010, Wolters Kluwer Health

    Ohad Birk

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

    Article • Prenatal Diagnosis, December 2009, Wiley

    Ohad Birk

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

    Article • Molecular Human Reproduction, December 2008, Oxford University Press (OUP)

    Ohad Birk

  79. Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

    Article • The American Journal of Human Genetics, August 2008, Elsevier

    Ohad Birk

  80. Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

    Article • The American Journal of Human Genetics, May 2008, Elsevier

    Ohad Birk

  81. 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 • American Journal of Medical Genetics Part A, January 2008, Wiley

    Ohad Birk

  82. Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway

    Article • The American Journal of Human Genetics, September 2007, Elsevier

    Ohad Birk

  83. Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway

    Article • The American Journal of Human Genetics, September 2007, Elsevier

    Ohad Birk

  84. HomozygousCRYBB1Deletion Mutation Underlies Autosomal Recessive Congenital Cataract

    Article • Investigative Ophthalmology & Visual Science, May 2007, Association for Research in Vision and Ophthalmology (ARVO)

    Ohad Birk

  85. Genetics of Arthrogryposis

    Article • Clinical Orthopaedics and Related Research, March 2007, Wolters Kluwer Health

    Ohad Birk

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

    Article • European Journal of Neurology, February 2007, Wiley

    Ohad Birk

  87. PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

    Article • The American Journal of Human Genetics, November 2006, Elsevier

    Ohad Birk

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

    Article • Nature Genetics, June 2006, Springer Science + Business Media

    Ohad Birk

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

    Article • Journal of Human Genetics, May 2006, Springer Science + Business Media

    Ohad Birk

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

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    Ohad Birk

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

    Article • Human Genetics, July 2004, Springer Science + Business Media

    Ohad Birk

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

    Article • Molecular Genetics and Metabolism, June 2004, Elsevier

    Ohad Birk

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

    Article • Journal of Inherited Metabolic Disease, March 2004, Wiley

    Ohad Birk

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

    Article • American Journal of Medical Genetics, January 2004, Wiley

    Ohad Birk

  95. X-linked spondyloepiphyseal dysplasia tarda: A novelSEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations

    Article • American Journal of Medical Genetics, January 2004, Wiley

    Ohad Birk

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

    Article • European Journal of Human Genetics, October 2003, Springer Science + Business Media

    Ohad Birk

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

    Article • The Journal of Pediatrics, March 2003, Elsevier

    Ohad Birk

  98. Identification of a stromal cell type characterized by the secretion of a soluble integrin-binding protein, MFG-E8, in mouse early gonadogenesis

    Article • Mechanisms of Development, September 2000, Elsevier

    Ohad Birk

  99. The LIM homeobox gene Lhx9 is essential for mouse gonad formation

    Article • Nature, February 2000, Springer Science + Business Media

    Ohad Birk

  100. The 60-kDa heat shock protein modulates allograft rejection

    Article • Proceedings of the National Academy of Sciences, April 1999, Proceedings of the National Academy of Sciences

    Ohad Birk

  101. Peptide Therapy for NOD Mouse Diabetes Induces Th2 Response and Downregulates Autoimmunity

    Article • Diabetes, May 1997, American Diabetes Association

    Ohad Birk

  102. NOD Mouse Diabetes: The Ubiquitous Mouse Hsp60 is a β-Cell Target Antigen of Autoimmune T Cells

    Article • Journal of Autoimmunity, April 1996, Elsevier

    Ohad Birk

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

    Article • Proceedings of the National Academy of Sciences, February 1996, Proceedings of the National Academy of Sciences

    Ohad Birk

  104. T-cell autoimmunity in type 1 diabetes mellitus

    Article • Current Opinion in Immunology, December 1993, Elsevier

    Ohad Birk

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

    Article • Proceedings of the National Academy of Sciences, April 1991, Proceedings of the National Academy of Sciences

    Ohad Birk