about
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneIGSF1 deficiency syndrome: A newly uncovered endocrinopathyMutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndromeLoss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargementThe IGSF1 deficiency syndrome: characteristics of male and female patientsDigenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndromeMutations in TBL1X Are Associated With Central Hypothyroidism.Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.Next-generation diagnostics: gene panel, exome, or whole genome?Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing.Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum DisorderFurther delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndromeDe Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial DysmorphismGPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North AmericaBiallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypesA Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann SyndromeUniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity
P50
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description
researcher ORCID ID = 0000-0002-2938-0233
@en
name
Yu Sun
@ast
Yu Sun
@en
Yu Sun
@nl
type
label
Yu Sun
@ast
Yu Sun
@en
Yu Sun
@nl
prefLabel
Yu Sun
@ast
Yu Sun
@en
Yu Sun
@nl
P106
P31
P496
0000-0002-2938-0233