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GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

American journal of human genetics, 2016-11, Vol.99 (5), p.1034-1044

2016

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The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

American journal of human genetics, 2012-02, Vol.90 (2), p.295-300

2012

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Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility

Genetics in medicine, 2021-07, Vol.23 (7), p.1288-1295

2021

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A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

American journal of human genetics, 2015-09, Vol.97 (3), p.465-474

2015

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Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

American journal of human genetics, 2012-07, Vol.91 (1), p.97-108

2012

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A commentary on actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes

Journal of human genetics, 2022-10, Vol.67 (10), p.617-619

2022

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Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

American journal of human genetics, 2011-07, Vol.89 (1), p.28-43

2011

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Factors associated with provision of smoking cessation support to pregnant women - a cross-sectional survey of midwives in New South Wales, Australia

BMC pregnancy and childbirth, 2020-04, Vol.20 (1), p.219-219, Article 219

2020

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Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

American journal of human genetics, 2015-06, Vol.96 (6), p.913-925

2015

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Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

BMC bioinformatics, 2021-04, Vol.22 (1), p.181-181, Article 181

2021

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Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial

American journal of human genetics, 2018-04, Vol.102 (4), p.540-546

2018

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Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

PloS one, 2014-06, Vol.9 (6), p.e98686-e98686

2014

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Interpreting secondary cardiac disease variants in an exome cohort

Circulation. Cardiovascular genetics, 2013-08, Vol.6 (4), p.337-346

2013

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Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants

Genetics in medicine, 2024-04, Vol.26 (4), p.101083, Article 101083

2024

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Response to Wei et al

Genetics in medicine, 2024-10, Vol.26 (10), p.101209, Article 101209

2024

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Generalization of Category Knowledge and Dimensional Categorization in Humans (Homo sapiens) and Nonhuman Primates (Macaca mulatta)

Journal of experimental psychology. Animal learning and cognition, 2015-10, Vol.41 (4), p.322-335

2015

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Response to Kiel and Kozaric

Genetics in medicine, 2024-07, Vol.26 (7), p.101162, Article 101162

2024

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Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants

Genetics in medicine, 2024-07, Vol.26 (7), p.101157, Article 101157

2024

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Long‐term survival in TARP syndrome and confirmation of RBM10 as the disease‐causing gene

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2516-2520

2011

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Cross-modal information integration in category learning

Attention, perception & psychophysics, 2014-07, Vol.76 (5), p.1473-1484

2014

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Co‐occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1430-1433

2023

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A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

The New England journal of medicine, 2011-08, Vol.365 (7), p.611-619

2011

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Databases of genomic variation and phenotypes: existing resources and future needs

Human molecular genetics, 2013-10, Vol.22 (R1), p.R27-R31

2013

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GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

A commentary on actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Factors associated with provision of smoking cessation support to pregnant women - a cross-sectional survey of midwives in New South Wales, Australia

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

Interpreting secondary cardiac disease variants in an exome cohort

Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants

Response to Wei et al

Generalization of Category Knowledge and Dimensional Categorization in Humans (Homo sapiens) and Nonhuman Primates (Macaca mulatta)

Response to Kiel and Kozaric

Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants

Long‐term survival in TARP syndrome and confirmation of RBM10 as the disease‐causing gene

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Cross-modal information integration in category learning

Co‐occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Databases of genomic variation and phenotypes: existing resources and future needs

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