H. Mason-Suares

发表

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Marylyn D. Ritchie, Scott Mellis, Alan R. Shuldiner, 2016, Science.

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.

Marc S. Williams, D. Ledbetter, M. Murray, 2018, American journal of human genetics.

The current state of clinical interpretation of sequence variants.

Heather Mason-Suares, A. Dubuc, H. Mason-Suares, 2017, Current opinion in genetics & development.

NGS testing for cardiomyopathy: Utility of adding RASopathy‐associated genes

O. Ceyhan-Birsoy, B. Funke, H. Mason-Suares, 2018, Human mutation.

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome

Matthew S. Lebo, T. Mullen, M. Lebo, 2017, European Journal of Human Genetics.

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

Matthew S. Lebo, M. Fornage, E. Lander, 2019, Cell.

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

D. Tester, M. Ackerman, K. Gripp, 2016, JCI insight.

Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder

Matthew S. Lebo, Mitchell W Dillon, M. Lebo, 2016, Prenatal diagnosis.

Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.

Matthew S. Lebo, A. Philippakis, A. Khera, 2020, JAMA network open.

1 TITLE : A Model for Genome-First Care : Returning Secondary Genomic Findings to Participants 1 and Their Healthcare Providers in a Large Research Cohort . 2 RUNNING TITLE : A Model for Genome-First Care

Matthew S. Lebo, Marc S. Williams, M. Murray, 2017 .

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

Matthew S. Lebo, Marc S. Williams, D. Ledbetter, 2017, bioRxiv.

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy

Matthew S. Lebo, W. Chung, M. Wheeler, 2020, Human mutation.

A Role for Chromosomal Microarray Testing in the Workup of Male Infertility.

R. Heim, A. Dubuc, Elissa Murphy, 2020, The Journal of molecular diagnostics : JMD.

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

Matthew S. Lebo, Ryan J. Schmidt, B. Funke, 2019, Genetics in Medicine.

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

Matthew S. Lebo, Marina T. DiStefano, Mary E. Haas, 2019, Cell.

Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing: Genotype-Phenotype Association in Incidental ARVC Genetic Findings

Matthew S. Lebo, Alexander E. Lopez, Christopher D. Nevius, 2017 .

When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell‐free DNA aneuploidy screens

L. Wilkins-Haug, H. Mason-Suares, S. Little, 2018, Prenatal diagnosis.

RASopathies

K. Gripp, H. Mason-Suares, L. Vincent, 2021, Constitutional Oncogenetics.

Polycomb Silencing of the Thor Gene

H. Mason-Suares, 2010 .

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

Matthew S. Lebo, Ryan J. Schmidt, B. Funke, 2019, Genetics in Medicine.

Considerations for whole exome sequencing unique to prenatal care

H. Mason-Suares, A. A. Abou Tayoun, 2019, Human Genetics.

Detecting Copy Number Variation via Next Generation Technology

Matthew S. Lebo, Matthew Lebo, Heather Mason-Suares, 2016, Current Genetic Medicine Reports.

Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities

Vanessa L. Horner, Yiping Shen, David T. Miller, 2013, Genetics in Medicine.

ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation

Bruce D. Gelb, Hélène Cavé, Mitchell W. Dillon, 2018, Genetics in Medicine.

Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

Matthew S. Lebo, Daniel R. Lavage, Dustin N. Hartzel, 2018, JAMA network open.

Chromosomal microarray analysis in pregnancy loss: Is it time for a consensus approach?

M. Listewnik, A. Ligon, H. Mason-Suares, 2022, Prenatal diagnosis.

Targeted Droplet‐Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus

Mark J. Bowser, H. Rehm, B. Funke, 2016, Human mutation.

Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.

H. Rehm, D. Mandelker, S. Amr, 2018, European journal of medical genetics.

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

Matthew S. Lebo, Audrey L. Fan, Marc S. Williams, 2017, Genetics in Medicine.

Polycomb silencing of the Drosophila 4E-BP gene regulates imaginal disc cell growth.

H. Mason-Suares, F. Tie, P. Harte, 2013, Developmental biology.

ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation

Mitchell W Dillon, H. Cavé, B. Gelb, 2018, Genetics in Medicine.

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Mitchell W Dillon, Elissa Murphy, H. Mason-Suares, 2020, Molecular genetics & genomic medicine.

Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome

Nimesh A. Patel, A. Berrocal, S. Mukai, 2022, Ophthalmic genetics.

A Framework for Automated Gene Selection in Genomic Applications

R. Green, H. Rehm, K. Machini, 2021, Genetics in Medicine.

A Framework for Automated Gene Selection in Genomic Screening

R. Green, H. Rehm, K. Machini, 2020, medRxiv.

Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.

Matthew S. Lebo, J. Manson, A. Philippakis, 2019, Journal of the American College of Cardiology.

Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing

Matthew S. Lebo, Alexander E. Lopez, Brandon K. Fornwalt, 2017, Genetics in Medicine.

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

Andrew R. Grant, Mitchell W Dillon, H. Cavé, 2018, bioRxiv.

Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.

Elissa Murphy, A. Giersch, H. Mason-Suares, 2021, Clinical chemistry.

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

Andrew R. Grant, Mitchell W Dillon, H. Cavé, 2018, bioRxiv.

Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

Matthew S. Lebo, Daniel R. Lavage, Dustin N. Hartzel, 2018, JAMA network open.

(2019). Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood. Cell , 177 (3), 587-596.e9.

Matthew S. Lebo, Marina T. DiStefano, M. Fornage, 2019 .

The current state of clinical interpretation of sequence variants.

A. Dubuc, H. Mason-Suares, Derick Hoskinson, 2017, Current opinion in genetics & development.

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

Matthew S. Lebo, Ryan J. Schmidt, B. Funke, 2019, Genetics in Medicine.

Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.

Elissa Murphy, A. Giersch, H. Mason-Suares, 2023, Clinical chemistry.

RASopathies

K. Gripp, H. Mason-Suares, L. Vincent, 2021, Clinical DNA Variant Interpretation.