D. Ng

发表

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Larry N. Singh, J. Mullikin, W. Rubinstein, 2012, American journal of human genetics.

Gonadal mosaicism in severe Pallister–Hall syndrome (Am J Med Genet 124A: 296–302 (2004)

L. Biesecker, W. Theodore, J. Johnston, 2005 .

Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq® cohort

W. Klein, L. Biesecker, B. Biesecker, 2018, Genetics in Medicine.

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Larry N. Singh, J. Mullikin, H. Kong, 2015, American journal of human genetics.

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening

Celine S. Hong, Larry N. Singh, J. Mullikin, 2016, Genetics in Medicine.

Disclosure of cardiac variants of uncertain significance results in an exome cohort

W. Klein, L. Biesecker, J. Johnston, 2018, Clinical genetics.

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Using Exome Data to Identify Malignant Hyperthermia

J. Mullikin, P. Stenson, D. Cooper, 2013 .

Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

J. Mullikin, P. Stenson, D. Cooper, 2013, Anesthesiology.

Interpreting Secondary Cardiac Disease Variants in an Exome Cohort

Larry N. Singh, J. Mullikin, P. Stenson, 2013, Circulation. Cardiovascular genetics.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Jamie K Teer, Shlomo Wientroub, Leslie G Biesecker, 2011, The New England journal of medicine.

Gonadal mosaicism in severe Pallister–Hall syndrome

L. Biesecker, W. Theodore, J. Johnston, 2004, American journal of medical genetics. Part A.

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

L. Biesecker, C. Tifft, A. Wilkie, 2004, Nature Genetics.

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.

M. McCarthy, J. Mullikin, F. Collins, 2012, The Journal of clinical investigation.

Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

L. Biesecker, J. Johnston, J. Yanovski, 2011, The Journal of clinical endocrinology and metabolism.

Health Behaviors Amongst Unaffected Participants Following Receipt of Variants of Uncertain Significance in Cardiomyopathy-Associated Genes

L. Biesecker, J. Johnston, B. Biesecker, 2018, Genetics in Medicine.

Designation of the TARP syndrome and linkage to Xp11.23‐q13.3 without samples from affected patients

L. Biesecker, R. Gorlin, Kyle T Kurpinski, 2003, American journal of medical genetics. Part A.

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

L. Biesecker, C. Tifft, D. Hadley, 2002, American journal of medical genetics.

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

L. Biesecker, J. Johnston, T. Bardakjian, 2009, BMC Medical Genetics.

Essential Role of the m2R-RGS6-IKACh Pathway in Controlling Intrinsic Heart Rate Variability

L. Biesecker, K. Martemyanov, A. Tinker, 2013, PloS one.

Acute Statin Administration Reduces Levels of Steroid Hormone Precursors

L. Biesecker, C. Stratakis, S. Soldin, 2020, Hormone and Metabolic Research.

Lenz Microphthalmia Syndrome

D. Ng, 2014 .

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Julie C. Sapp, J. Mullikin, S. Wientroub, 2011, The New England journal of medicine.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.