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Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

Methods (San Diego, Calif.), 2017-01, Vol.113, p.139-151

2017

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Identification of an Inhibitor of the EWS-FLI1 Oncogenic Transcription Factor by High-Throughput Screening

JNCI : Journal of the National Cancer Institute, 2011-06, Vol.103 (12), p.962-978

2011

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Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

American journal of human genetics, 2015-04, Vol.96 (4), p.675-681

2015

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Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations

Human mutation, 2014-11, Vol.35 (11), p.1363-1371

2014

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Ecteinascidin 743 Interferes with the Activity of EWS-FLI1 in Ewing Sarcoma Cells

Neoplasia (New York, N.Y.), 2011-02, Vol.13 (2), p.145-IN10

2011

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Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

Human mutation, 2018-03, Vol.39 (3), p.415-432

2018

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Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over

PLoS genetics, 2007-08, Vol.3 (8), p.e139-e139

2007

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Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease

Human molecular genetics, 2016-04, Vol.25 (8), p.1528-1542

2016

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Compound heterozygosity for loss‐of‐function FARSB variants in a patient with classic features of recessive aminoacyl‐tRNA synthetase‐related disease

Human mutation, 2018-06, Vol.39 (6), p.834-840

2018

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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Nature genetics, 2015-08, Vol.47 (8), p.926-932

2015

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Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

The Journal of clinical investigation, 2019-12, Vol.129 (12), p.5568-5583

2019

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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Human molecular genetics, 2019-02, Vol.28 (4), p.525-538

2019

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A pilot randomized control trial of topical capsaicin as adjunctive therapy for nausea and vomiting of pregnancy

American journal of obstetrics & gynecology MFM, 2023-07, Vol.5 (7), p.100997-100997, Article 100997

2023

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A novel AARS mutation in a family with dominant myeloneuropathy

Neurology, 2015-05, Vol.84 (20), p.2040

2015

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AKAP9 is essential for spermatogenesis and sertoli cell maturation in mice

Genetics (Austin), 2013-06, Vol.194 (2), p.447-457

2013

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Pilot RCT of the Feasibility and Effectiveness of Antepartum Video Breastfeeding Education on Breastfeeding Rates

American journal of obstetrics and gynecology, 2022-01, Vol.226 (1), p.S610-S610

2022

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Association between partner status and postpartum depression among collaborative care perinatal mental health program participants

American journal of obstetrics and gynecology, 2023-01, Vol.228 (1), p.S415-S416

2023

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Neighborhood deprivation and preeclampsia or eclampsia in high-risk pregnancy

American journal of obstetrics and gynecology, 2023-01, Vol.228 (1), p.S517-S517

2023

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A Missed Opportunity? How Prenatal Care, Birth Hospitalization, and Digital Health Could Increase Nonbirthing Partners' Access to Recommended Medical and Mental Healthcare

The Journal of perinatal & neonatal nursing, 2022-10, Vol.36 (4), p.330

2022

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Obstetric Emergency Simulation: A Pre/Post Survey Analysis of High-Fidelity Teamwork Among Emergency Department Physicians

Rhode Island medical journal (2013), 2024-07, Vol.107 (7), p.36

2024

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Cover Image, Volume 39, Issue 3

Human mutation, 2018-03, Vol.39 (3), p.i-i

2018

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Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

Nature genetics, 2015-07, Vol.47 (8), p.926-932

2015

Volltextzugriff (PDF)

Ecteinascidin 743 Interferes with the Activity of EWS-FLI1 in Ewing Sarcoma Cells12

Neoplasia (New York, N.Y.), 2011-02, Vol.13 (2), p.145-153

2011

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Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

Identification of an Inhibitor of the EWS-FLI1 Oncogenic Transcription Factor by High-Throughput Screening

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations

Ecteinascidin 743 Interferes with the Activity of EWS-FLI1 in Ewing Sarcoma Cells

Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over

Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Compound heterozygosity for loss‐of‐function FARSB variants in a patient with classic features of recessive aminoacyl‐tRNA synthetase‐related disease

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

A pilot randomized control trial of topical capsaicin as adjunctive therapy for nausea and vomiting of pregnancy

A novel AARS mutation in a family with dominant myeloneuropathy

AKAP9 is essential for spermatogenesis and sertoli cell maturation in mice

Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy

Pilot RCT of the Feasibility and Effectiveness of Antepartum Video Breastfeeding Education on Breastfeeding Rates

Association between partner status and postpartum depression among collaborative care perinatal mental health program participants

Neighborhood deprivation and preeclampsia or eclampsia in high-risk pregnancy

A Missed Opportunity? How Prenatal Care, Birth Hospitalization, and Digital Health Could Increase Nonbirthing Partners' Access to Recommended Medical and Mental Healthcare

Obstetric Emergency Simulation: A Pre/Post Survey Analysis of High-Fidelity Teamwork Among Emergency Department Physicians

Cover Image, Volume 39, Issue 3

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

Ecteinascidin 743 Interferes with the Activity of EWS-FLI1 in Ewing Sarcoma Cells12

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