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Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

Genetics in medicine, 2018-03, Vol.20 (3), p.369-373

2018

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Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

Proceedings of the National Academy of Sciences - PNAS, 2012-05, Vol.109 (19), p.7391-7396

2012

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Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

Proceedings of the National Academy of Sciences - PNAS, 2013-02, Vol.110 (9), p.3453-3458

2013

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A Person-Centered Approach to Cardiovascular Genetic Testing

Cold Spring Harbor perspectives in medicine, 2020-07, Vol.10 (7), p.a036624

Platt, Julia

2020

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Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation

Circulation. Genomic and precision medicine, 2019-11, Vol.12 (11), p.e002713-e002713

2019

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Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine

Mitochondrion, 2012-03, Vol.12 (2), p.258-261

2012

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Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.428-432

2012

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Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

Clinical genetics, 2013-05, Vol.83 (5), p.422-431

2013

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Clinical whole-exome sequencing: are we there yet?

Genetics in medicine, 2014-09, Vol.16 (9), p.717-719

2014

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Comparing pre-pregnancy counselling, diabetes knowledge and risk factors for adverse outcomes in women with type 1 or type 2 diabetes mellitus in Wales: A prospective multi-centre observational study

Diabetic medicine, 2023-10, Vol.40 (10), p.e15161-e15161

2023

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Points to Consider in the Clinical Use of NGS Panels for Mitochondrial Disease: An Analysis of Gene Inclusion and Consent Forms

Journal of genetic counseling, 2014-08, Vol.23 (4), p.594-603

2014

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

Human mutation, 2020-09, Vol.41 (9), p.1577-1587

2020

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Mitochondrial NGS panels: Is more better?

Mitochondrion, 2013-11, Vol.13 (6), p.919

2013

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Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors

Journal of genetic counseling, 2020-04, Vol.29 (2), p.192-201

2020

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An assessment of the role of loss of function Vinculin (VCL) variants in inherited cardiomyopathy

Human mutation, 2020-06, Vol.41 (9), p.1577-1587

2020

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INTERDISCIPLINARY PERIPARTUM CARE OF THE PATIENT WITH DIASTOLIC HEART FAILURE IN NON-OBSTRUCTIVE HYPERTROPHIC CARDIOMYOPATHY

Journal of the American College of Cardiology, 2017-03, Vol.69 (11), p.2118-2118

2017

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Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia

Journal of genetic counseling, 2016-10, Vol.25 (5), p.936-944

2016

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Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms

Circulation. Genomic and precision medicine, 2021-12, Vol.14 (6), p.e003419-e003419

2021

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Novel c.316G>C mutation in PDHA1 causes PDH deficiency

Mitochondrion, 2013-11, Vol.13 (6), p.925

2013

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Mono- and Bi-allelic Protein Truncating Variants in Alpha-actinin 2 cause Cardiomyopathy through Distinct Mechanisms

Circulation. Genomic and precision medicine, 2021-11, Vol.14 (6), p.e003419-e003419

2021

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Variant Interpretation for Dilated Cardiomyopathy (DCM): Refinement of the ACMG/ClinGen Guidelines for the DCM Precision Medicine Study

Circulation. Genomic and precision medicine, 2020-03, Vol.13 (2), p.e002480-e002480

2020

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Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine

Mitochondrion, 2012-03, Vol.12 (2), p.258-261

2012

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De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Cold Spring Harbor molecular case studies, 2015-10, Vol.1 (1), p.a000562-a000562

2015

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On the Specific Gravity of Spirostomum, Paramaecium, and the Tadpole in Relation to the Problem of Geotaxis

The American naturalist, 1899-01, Vol.33 (385), p.31-38

Platt, Julia B.

1899

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Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

A Person-Centered Approach to Cardiovascular Genetic Testing

Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation

Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

Clinical whole-exome sequencing: are we there yet?

Comparing pre-pregnancy counselling, diabetes knowledge and risk factors for adverse outcomes in women with type 1 or type 2 diabetes mellitus in Wales: A prospective multi-centre observational study

Points to Consider in the Clinical Use of NGS Panels for Mitochondrial Disease: An Analysis of Gene Inclusion and Consent Forms

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

Mitochondrial NGS panels: Is more better?

Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors

An assessment of the role of loss of function Vinculin (VCL) variants in inherited cardiomyopathy

INTERDISCIPLINARY PERIPARTUM CARE OF THE PATIENT WITH DIASTOLIC HEART FAILURE IN NON-OBSTRUCTIVE HYPERTROPHIC CARDIOMYOPATHY

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia

Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms

Novel c.316G>C mutation in PDHA1 causes PDH deficiency

Mono- and Bi-allelic Protein Truncating Variants in Alpha-actinin 2 cause Cardiomyopathy through Distinct Mechanisms

Variant Interpretation for Dilated Cardiomyopathy (DCM): Refinement of the ACMG/ClinGen Guidelines for the DCM Precision Medicine Study

Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

On the Specific Gravity of Spirostomum, Paramaecium, and the Tadpole in Relation to the Problem of Geotaxis

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