about
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1Targeted discovery of novel human exons by comparative genomics.X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.Acetaminophen (Paracetamol) Use Modifies the Sulfation of Sex Hormones.Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.The human noncoding genome defined by genetic diversity.An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.The human functional genome defined by genetic diversityIdentification of misclassified ClinVar variants using disease population prevalenceResponse to Whiffin et alAn unsupervised learning approach to identify novel signatures of health and disease from multimodal dataPrecision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging
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description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Hung-Chun Yu
@ast
Hung-Chun Yu
@en
Hung-Chun Yu
@es
Hung-Chun Yu
@sl
type
label
Hung-Chun Yu
@ast
Hung-Chun Yu
@en
Hung-Chun Yu
@es
Hung-Chun Yu
@sl
prefLabel
Hung-Chun Yu
@ast
Hung-Chun Yu
@en
Hung-Chun Yu
@es
Hung-Chun Yu
@sl
P106
P21
P31
P496
0000-0002-4980-8508