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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

Annals of neurology, 2015-02, Vol.77 (2), p.206-214

2015

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Include a behavioral health specialist in ADHD evaluations

The Journal of family practice, 2020-06, Vol.69 (5), p.220-220

Bean, H.C

2020

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Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

American journal of human genetics, 2016-11, Vol.99 (5), p.1140-1149

2016

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An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects

American journal of human genetics, 2012-10, Vol.91 (4), p.646-659

2012

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Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Genome medicine, 2017-12, Vol.9 (1), p.111-111, Article 111

2017

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Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project

Genetics in medicine, 2008-03, Vol.10 (3), p.173-180

2008

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Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-08, Vol.23 (8), p.1399-1415

2021

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Regulating whole exome sequencing as a diagnostic test

Human Genetics, 2016-06, Vol.135 (6), p.655-673

2016

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Defining Critical Genes During Spherule Remodeling and Endospore Development in the Fungal Pathogen, Coccidioides posadasii

Frontiers in genetics, 2020-05, Vol.11, p.483-483

2020

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Vibrio parahaemolyticus Infections in the United States, 1973–1998

The Journal of infectious diseases, 2000-05, Vol.181 (5), p.1661-1666

2000

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An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction

PloS one, 2014-06, Vol.9 (6), p.e99560

2014

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A quantitative proteomic analysis of lung epithelial (A549) cells infected with 2009 pandemic influenza A virus using stable isotope labelling with amino acids in cell culture

Proteomics (Weinheim), 2012-05, Vol.12 (9), p.1431-1436

2012

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Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21

Human genetics, 2012-07, Vol.131 (7), p.1039-1046

2012

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Recent trends in the additive manufacturing of polyurethanes

Polymer international, 2024-01, Vol.73 (1), p.5-8

2024

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Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase

Human molecular genetics, 2009-05, Vol.18 (9), p.1624-1632

2009

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ACMG position statement on prenatal/preconception expanded carrier screening

Genetics in medicine, 2013-06, Vol.15 (6), p.482-483

2013

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Nonisocyanate Polyurethane Segmented Copolymers from Bis‐Carbonylimidazolides

Macromolecular rapid communications., 2024-06, Vol.45 (11), p.e2400057-n/a

2024

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Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

G3 : genes - genomes - genetics, 2018-01, Vol.8 (1), p.105-111

2018

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Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

Human mutation, 2016-06, Vol.37 (6), p.559-563

2016

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DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-06, Vol.23 (6), p.979-988

2021

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CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome

American journal of medical genetics. Part A, 2006-11, Vol.140A (22), p.2501-2505

2006

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466 Connecting the genome and volatilome in Pseudomonas aeruginosa cystic fibrosis lung infection isolates

Journal of cystic fibrosis, 2022-10, Vol.21, p.S266-S267

2022

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Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: A report from the National Down Syndrome Project

Birth defects research. A Clinical and molecular teratology, 2011-10, Vol.91 (10), p.885-893

2011

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Polymer Colloids: Current Challenges, Emerging Applications, and New Developments

Macromolecules, 2023-04, Vol.56 (7), p.2579-2607

2023

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THE BACTERICIDAL ACTIVITY OF PHENOLS IN AQUEOUS SOLUTIONS OF SOAP: Part I.-The Solubility of a Water-insoluble Phenol in Aqueous Solutions of Soap

Journal of pharmacy and pharmacology, 2011-04, Vol.2 (1), p.484-490

2011

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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

Include a behavioral health specialist in ADHD evaluations

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Regulating whole exome sequencing as a diagnostic test

Defining Critical Genes During Spherule Remodeling and Endospore Development in the Fungal Pathogen, Coccidioides posadasii

Vibrio parahaemolyticus Infections in the United States, 1973–1998

An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction

A quantitative proteomic analysis of lung epithelial (A549) cells infected with 2009 pandemic influenza A virus using stable isotope labelling with amino acids in cell culture

Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21

Recent trends in the additive manufacturing of polyurethanes

Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase

ACMG position statement on prenatal/preconception expanded carrier screening

Nonisocyanate Polyurethane Segmented Copolymers from Bis‐Carbonylimidazolides

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome

466 Connecting the genome and volatilome in Pseudomonas aeruginosa cystic fibrosis lung infection isolates

Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: A report from the National Down Syndrome Project

Polymer Colloids: Current Challenges, Emerging Applications, and New Developments

THE BACTERICIDAL ACTIVITY OF PHENOLS IN AQUEOUS SOLUTIONS OF SOAP: Part I.-The Solubility of a Water-insoluble Phenol in Aqueous Solutions of Soap

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