All Stories

  1. Analyzing large-scale genomic data with cloud data lakes
  2. Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation
  3. Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone
  4. X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome
  5. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
  6. Web and social media searches highlight menstrual irregularities as a global concern in COVID-19 vaccinations
  7. PSMC1 variant causes a novel neurological syndrome
  8. Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center
  9. Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy
  10. Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation
  11. A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
  12. A novel leaky splice variant in centromere protein J ( CENPJ )‐associated Seckel syndrome
  13. Looking for the skeleton in the closet—rare genetic diagnoses in patients with diabetes and skeletal manifestations
  14. TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews
  15. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
  16. CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice
  17. Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy
  18. Absence of SCAPER causes male infertility in humans andDrosophilaby modulating microtubule dynamics during meiosis
  19. Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report
  20. Phenotypic variability and mutation hotspot in COX15 ‐related Leigh syndrome
  21. B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature
  22. A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency
  23. Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase
  24. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
  25. Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation
  26. DEGS1 variant causes neurological disorder
  27. A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I
  28. TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation
  29. SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome
  30. Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish
  31. Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe
  32. SEC31A mutation affects ER homeostasis, causing a neurological syndrome
  33. Nocturnal Atrial Fibrillation Caused by Mutation in KCND2 , Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel
  34. Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations
  35. Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease
  36. Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred
  37. Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population
  38. RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3
  39. A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion
  40. PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay
  41. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
  42. Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
  43. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome
  44. A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers
  45. Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture
  46. Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred
  47. ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
  48. UNC80mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channelNALCN
  49. CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay
  50. Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta
  51. A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A
  52. A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex
  53. VPS53mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)
  54. Natural History and Clinical Manifestations of Hyponatremia and Hyperchlorhidrosis due to Carbonic Anhydrase XII Deficiency
  55. Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data
  56. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation
  57. Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
  58. Analysis of Free Online Physician Advice Services
  59. Varied Clinical Presentations of Seven Patients With Mutations inCYP11A1Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc
  60. A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta
  61. ZNF750 Is Expressed in Differentiated Keratinocytes and Regulates Epidermal Late Differentiation Genes
  62. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1
  63. Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C
  64. Coding exons function as tissue-specific enhancers of nearby genes
  65. Association analysis identifies ZNF750 regulatory variants in psoriasis
  66. High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2
  67. Integration of SNP genotyping confidence scores in IBD inference
  68. The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter
  69. Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD
  70. CSI-OMIM - Clinical Synopsis Search in OMIM
  71. Selenocysteinopathies: progressive cerebello–cerebral atrophy and other diseases of the 21st amino acid, selenocysteine
  72. Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation
  73. Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII
  74. Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy
  75. Syndrome to gene (S2G): in-silico identification of candidate genes for human diseases
  76. Congenital Glaucoma
  77. Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies
  78. Gene expression microarray profiles of cumulus cells in lean and overweight-obese polycystic ovary syndrome patients
  79. Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9
  80. Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ
  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
  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
  83. Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway
  84. HomozygousCRYBB1Deletion Mutation Underlies Autosomal Recessive Congenital Cataract
  85. Genetics of Arthrogryposis
  86. Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred
  87. PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy
  88. Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein
  89. Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest
  90. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: Molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)
  91. CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds
  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
  93. Carnitine-acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient
  94. Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13
  95. X-linked spondyloepiphyseal dysplasia tarda: A novelSEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations
  96. Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation
  97. Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome
  98. Identification of a stromal cell type characterized by the secretion of a soluble integrin-binding protein, MFG-E8, in mouse early gonadogenesis
  99. The LIM homeobox gene Lhx9 is essential for mouse gonad formation
  100. The 60-kDa heat shock protein modulates allograft rejection
  101. Peptide Therapy for NOD Mouse Diabetes Induces Th2 Response and Downregulates Autoimmunity
  102. NOD Mouse Diabetes: The Ubiquitous Mouse Hsp60 is a β-Cell Target Antigen of Autoimmune T Cells
  103. A role of Hsp60 in autoimmune diabetes: analysis in a transgenic model.
  104. T-cell autoimmunity in type 1 diabetes mellitus
  105. Vaccination against autoimmune mouse diabetes with a T-cell epitope of the human 65-kDa heat shock protein.