about
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.Clinical genomics: from a truly personal genome viewpoint.Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndromeWhole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic PolyneuropathyMissense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityA diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disordersRecurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyBiallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophyXq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndromeTBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease
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Q37410689-AC24B375-2561-4F87-AB13-0D85D1172626Q38843416-D224876B-F0BB-45E8-8B07-72948879954AQ89990342-3A9FAEC1-3A36-427E-AF42-BA869E1EE130Q90476267-4C3017B8-3DB6-4D8F-B145-041CEF2051BCQ90619305-061BE195-7920-41AA-8D53-86F5EA22880FQ90916912-B5231304-1609-4A5B-BFED-1731044EC514Q91137356-7E0B4179-C055-43B7-A0A9-AA6E1B8CF4FDQ91460482-DAA90319-9D38-42E1-BD9E-5D09BB084982Q91889216-121209D6-4EC2-4338-A7CA-729E142F92BBQ92863416-3367A682-14F6-46B2-83BB-5243C11C0C71Q93027115-85D860A1-7092-4DC1-96E1-44348FE8D278
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description
researcher
@en
name
James R Lupski
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type
label
James R Lupski
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prefLabel
James R Lupski
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P31
P496
0000-0001-9907-9246