Lista de obras - Hung-Chun Yu - Dominio Público Uruguay

Acetaminophen (Paracetamol) Use Modifies the Sulfation of Sex Hormones

artículo científico publicado en 2018

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

artículo científico publicado en 2013

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.

artículo científico publicado en 2014

An unsupervised learning approach to identify novel signatures of health and disease from multimodal data

scientific article published on 10 January 2020

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.

artículo científico publicado en 2014

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.

artículo científico publicado en 2016

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

artículo científico publicado en 2014

Identification of misclassified ClinVar variants using disease population prevalence

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

artículo científico publicado en 2018

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

artículo científico publicado en 2017

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

artículo científico publicado en 2015

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

artículo científico publicado en 2020

Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults

artículo científico publicado en 2018

Response to Whiffin et al

artículo científico publicado en 2019

Targeted discovery of novel human exons by comparative genomics

artículo científico publicado en 2007

The human functional genome defined by genetic diversity

The human noncoding genome defined by genetic diversity

artículo científico publicado en 2018

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

artículo científico publicado en 2017

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid

artículo científico publicado en 2017

Lista de obras de Hung-Chun Yu

Acetaminophen (Paracetamol) Use Modifies the Sulfation of Sex Hormones

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.

An unsupervised learning approach to identify novel signatures of health and disease from multimodal data

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.

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.

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Identification of misclassified ClinVar variants using disease population prevalence

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults

Response to Whiffin et al

Targeted discovery of novel human exons by comparative genomics

The human functional genome defined by genetic diversity

The human noncoding genome defined by genetic diversity

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid