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LUPSKI, JAMES
One or more keywords matched the following items that are connected to LUPSKI, JAMES
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Academic Article Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
Academic Article Low factor XII level in an individual with Sotos syndrome.
Academic Article A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
Academic Article Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.
Concept Intracellular Signaling Peptides and Proteins
Academic Article Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.
Academic Article Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Academic Article Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Academic Article Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.
Academic Article Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Academic Article Identification of novel candidate disease genes from de novo exonic copy number variants.
Academic Article Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.
Academic Article Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Academic Article Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Academic Article A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Academic Article Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
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