Hung-Chun Yu

发表

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

T. Spector, E. Kirkness, N. Shah, 2020, Genome Medicine.

Identification of misclassified ClinVar variants using disease population prevalence

Amalio Telenti, C Thomas Caskey, N. Shah, 2016, bioRxiv.

Targeted discovery of novel human exons by comparative genomics.

David Haussler, Mark Diekhans, Phil Green, 2007, Genome research.

Precision Medicine Advancements Using Whole Genome Sequencing, Noninvasive Whole Body Imaging, and Functional Diagnostics

E. Kirkness, J. Venter, D. Karow, 2018, bioRxiv.

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

E. Kirkness, J. Venter, J. Venter, 2020, Proceedings of the National Academy of Sciences.

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

T. Shaikh, A. Bassuk, B. Darbro, 2014, Tremor and other hyperkinetic movements.

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

T. Shaikh, M. Minczuk, A. Vanlander, 2015, Journal of Medical Genetics.

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

Warren A. Cheung, T. Shaikh, T. Pastinen, 2017, Human molecular genetics.

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

Amalio Telenti, C Thomas Caskey, Nicholas J Schork, 2017, Nature Genetics.

Whole‐exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms

G. Carvill, T. Shaikh, T. Benke, 2021, Developmental medicine and child neurology.

The human noncoding genome defined by genetic diversity

Bing Ren, Amalio Telenti, Victor Lavrenko, 2018, Nature Genetics.

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

E. Zackai, T. Shaikh, L. Medne, 2014, American journal of medical genetics. Part A.

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

M. Lovell, G. Bellus, Hung-Chun Yu, 2015, American journal of medical genetics. Part A.

Genome-wide copy number variations in a large cohort of bantu African children

Stephanie A. Santorico, B. Hallgrímsson, T. Shaikh, 2020, bioRxiv.

Precision medicine in neurology

C. Caskey, J. Posey, Hung-Chun Yu, 2020 .

Identification of misclassified ClinVar variants using disease population prevalence

N. Shah, J. Venter, A. Telenti, 2016, bioRxiv.

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

T. Shaikh, Hung-Chun Yu, S. Miyamoto, 2016, Cold Spring Harbor molecular case studies.

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans

Stephanie A. Santorico, B. Hallgrímsson, T. Shaikh, 2021, HGG advances.

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

U. Stephani, Manuela Pendziwiat, H. Muhle, 2018, American journal of human genetics.

Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish

T. Shaikh, Hung-Chun Yu, A. Quintana, 2020, Biology Open.

Abnormal expression of GABAA receptor sub-units and hypomotility upon loss of gabra1 in zebrafish

T. Shaikh, Hung-Chun Yu, A. Quintana, 2020, bioRxiv.

Unsupervised integration of multimodal dataset identifies novel signatures of health and disease

T. Spector, E. Kirkness, N. Shah, 2018, bioRxiv.

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

T. Shaikh, M. Baumgartner, T. Suormala, 2013, American journal of human genetics.

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

E. Kirkness, J. Venter, N. Schork, 2017, Nature Genetics.

Response to Whiffin et al.

N. Shah, J. Venter, A. Telenti, 2019, American journal of human genetics.

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

T. Shaikh, L. de Meirleir, J. V. Van Hove, 2017, Pediatric neurology.

The human noncoding genome defined by genetic diversity

E. Kirkness, N. Shah, J. Venter, 2018, Nature Genetics.

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

U. Stephani, Manuela Pendziwiat, H. Muhle, 2018, American journal of human genetics.