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LUPSKI, JAMES

One or more keywords matched the following items that are connected to LUPSKI, JAMES

Item Type	Name
Academic Article	Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Academic Article	Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
Academic Article	Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Academic Article	Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
Academic Article	The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
Academic Article	Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3.
Academic Article	A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.
Academic Article	Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction.
Academic Article	Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization.
Academic Article	Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
Academic Article	Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
Academic Article	20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
Academic Article	Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Academic Article	Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
Academic Article	Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.
Academic Article	MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Academic Article	Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Academic Article	Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
Concept	Membrane Glycoproteins
Concept	Membrane Transport Proteins
Concept	Membrane Proteins
Concept	Mucous Membrane
Concept	Bacterial Outer Membrane Proteins
Concept	Mitochondrial Membranes
Concept	Mitochondrial Membrane Transport Proteins
Academic Article	NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Academic Article	Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Academic Article	Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Academic Article	Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Academic Article	Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
Academic Article	Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Academic Article	Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
Academic Article	Chimeric transcripts resulting from complex duplications in chromosome Xq28.
Academic Article	Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Academic Article	Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Academic Article	Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Academic Article	Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Academic Article	Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Academic Article	CAV3 mutation in a patient with transient hyperCKemia and myalgia.
Academic Article	Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article	Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.
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	Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Academic Article	Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Academic Article	HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Academic Article	Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Academic Article	Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.
Academic Article	Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Academic Article	Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Academic Article	Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Academic Article	De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Academic Article	Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Academic Article	Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.

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