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Direct ETTIN-auxin interaction controls chromatin states in gynoecium development

eLife, 2020-04, Vol.9

2020

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A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Human mutation, 2013-01, Vol.34 (1), p.191-199

2013

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An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

Molecular and cellular neuroscience, 2011-02, Vol.46 (2), p.432-443

2011

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Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Genetics in medicine, 2015-11, Vol.17 (11), p.880-888

2015

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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

American journal of human genetics, 2018-06, Vol.102 (6), p.1104-1114

2018

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COL4A gene variants are common in children with hematuria and a family history of kidney disease

Pediatric nephrology (Berlin, West), 2023-11, Vol.38 (11), p.3625-3633

2023

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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

The Journal of clinical investigation, 2011-05, Vol.121 (5), p.2013-2024

2011

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Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

American journal of human genetics, 2010-10, Vol.87 (4), p.560-566

2010

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A systematic approach to the reporting of medically relevant findings from whole genome sequencing

BMC medical genetics, 2014-12, Vol.15 (1), p.134-134, Article 134

2014

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A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

Human mutation, 2012-01, Vol.33 (1), p.244-253

2012

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The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

Trials, 2014-03, Vol.15 (1), p.85-85, Article 85

2014

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Syndromic neurodevelopmental disorder associated with de novo variants in DDX23

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.2863-2872

2021

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A One-Page Summary Report of Genome Sequencing for the Healthy Adult

Public health genomics, 2015-01, Vol.18 (2), p.123-129

2015

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Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

BMC medical genetics, 2013-07, Vol.14 (1), p.68-68

2013

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Health Care Infrastructure for Financially Sustainable Clinical Genomics

The Journal of molecular diagnostics : JMD, 2016-09, Vol.18 (5), p.697-706

2016

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Pregnancy planning in women with pregestational diabetes

The journal of maternal-fetal & neonatal medicine, 2011-09, Vol.24 (9), p.1095-1101

2011

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A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

Human mutation, 2014-04, Vol.35 (4), p.512-512

2014

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High prevalence of cardiac findings in individuals with Fabry disease identified via no-charge sponsored testing programs

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107346, Article 107346

2023

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High Prevalence Of Cardiac Findings In Individuals With Fabry Disease Identified Via No-Charge Sponsored Testing Programs

Journal of cardiac failure, 2023-04, Vol.29 (4), p.696-696

2023

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The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial

Annals of internal medicine, 2017-08, Vol.167 (3), p.159

2017

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

Direct ETTIN-auxin interaction controls chromatin states in gynoecium development

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

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

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

COL4A gene variants are common in children with hematuria and a family history of kidney disease

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

A One-Page Summary Report of Genome Sequencing for the Healthy Adult

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

Health Care Infrastructure for Financially Sustainable Clinical Genomics

Pregnancy planning in women with pregestational diabetes

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

High prevalence of cardiac findings in individuals with Fabry disease identified via no-charge sponsored testing programs

High Prevalence Of Cardiac Findings In Individuals With Fabry Disease Identified Via No-Charge Sponsored Testing Programs

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial

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