|Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites|
T Long, M Hicks, HC Yu, WH Biggs, EF Kirkness, C Menni, J Zierer, ...
Nature genetics 49 (4), 568-578, 2017
|An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1|
HC Yu, JL Sloan, G Scharer, A Brebner, AM Quintana, NP Achilly, I Manoli, ...
The American Journal of Human Genetics 93 (3), 506-514, 2013
|The human noncoding genome defined by genetic diversity|
J Di Iulio, I Bartha, EHM Wong, HC Yu, V Lavrenko, D Yang, I Jung, ...
Nature genetics 50 (3), 333-337, 2018
|Identification of misclassified ClinVar variants via disease population prevalence|
N Shah, YCC Hou, HC Yu, R Sainger, CT Caskey, JC Venter, A Telenti
The American Journal of Human Genetics 102 (4), 609-619, 2018
|Targeted discovery of novel human exons by comparative genomics|
A Siepel, M Diekhans, B Brejová, L Langton, M Stevens, CLG Comstock, ...
Genome research 17 (12), 1763-1773, 2007
|Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder|
CR Coughlin, GH Scharer, MW Friederich, HC Yu, EA Geiger, ...
Journal of medical genetics 52 (8), 532-540, 2015
|Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults|
BA Perkins, CT Caskey, P Brar, E Dec, DS Karow, AM Kahn, YCC Hou, ...
Proceedings of the National Academy of Sciences 115 (14), 3686-3691, 2018
|An individual with blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B|
HC Yu, EA Geiger, L Medne, EH Zackai, TH Shaikh
American Journal of Medical Genetics Part A 164 (4), 950-957, 2014
|Mutations in PMPCB encoding the catalytic subunit of the mitochondrial presequence protease cause neurodegeneration in early childhood|
FN Vögtle, B Brändl, A Larson, M Pendziwiat, MW Friederich, SM White, ...
The American Journal of Human Genetics 102 (4), 557-573, 2018
|Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities|
AM Quintana, HC Yu, A Brebner, M Pupavac, EA Geiger, A Watson, ...
Human Molecular Genetics, 2017
|Acetaminophen (paracetamol) use modifies the sulfation of sex hormones|
IV Cohen, ET Cirulli, MW Mitchell, TJ Jonsson, J Yu, N Shah, TD Spector, ...
EBioMedicine 28, 316-323, 2018
|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 …|
J Saari, MA Lovell, HC Yu, GA Bellus
American Journal of Medical Genetics Part A 167 (2), 421-427, 2015
|Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging|
YCC Hou, HC Yu, R Martin, ET Cirulli, NM Schenker-Ahmed, M Hicks, ...
Proceedings of the National Academy of Sciences 117 (6), 3053-3062, 2020
|X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid|
E Scalais, E Osterheld, C Weitzel, L De Meirleir, F Mataigne, G Martens, ...
Pediatric Neurology, 2017
|Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart …|
HC Yu, CR Coughlin, EA Geiger, BJ Salvador, ER Elias, JL Cavanaugh, ...
Molecular Case Studies 2 (3), a000844, 2016
|An unsupervised learning approach to identify novel signatures of health and disease from multimodal data|
I Shomorony, ET Cirulli, L Huang, LA Napier, RR Heister, M Hicks, ...
Genome medicine 12 (1), 1-14, 2020
|Evaluating familial essential tremor with novel genetic approaches: is it a genotyping or phenotyping issue?|
P Gonzalez-Alegre, J Di Paola, K Wang, S Fabbro, HC Yu, TH Shaikh, ...
Tremor and Other Hyperkinetic Movements 4, 2014
|Identification of misclassified ClinVar variants using disease population prevalence|
N Shah, YCC Hou, HC Yu, R Sainger, E Dec, B Perkins, CT Caskey, ...
BioRxiv, 075416, 2016
|The human functional genome defined by genetic diversity|
J Di Iulio, I Bartha, EHM Wong, HC Yu, M Hicks, N Shah, V Lavrenko, ...
BioRxiv, 082362, 2016
|Precision medicine advancements using whole genome sequencing, noninvasive whole body imaging, and functional diagnostics|
YCC Hou, HC Yu, R Martin, NM Schenker-Ahmed, M Hicks, ET Cirulli, ...
bioRxiv, 497560, 2018