about
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in GoosecoidNephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsMutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationThe role of primary cilia in the development and disease of the retinaHACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfectaAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesMutations in TJP2 cause progressive cholestatic liver disease.Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaGenetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityVariability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Null mutations in LTBP2 cause primary congenital glaucoma.Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.Characterizing the morbid genome of ciliopathies.Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation.Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.A new case of Fas-associated death domain protein deficiency and update on treatment outcomes.A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes.Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications.Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
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0000-0003-0376-7736