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M. Bainbridge · SciRah

Researcher profile · Semantic Scholar

M. Bainbridge

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M. Bainbridge — researcher profile on SciRah

h-index: 47
Works: 136
Citations: 38K

Most-cited papers

A global reference for human genetic variation
Taras K. Oleksyk, Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, Adam Gonçalo R. Auton Abecasis, Adam Auton +496 more
2015Nature17K citations Open access
Semantic Scholar
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Ya-Ping Yang, D. Muzny, J. Reid, M. Bainbridge +20 more
2013New England Journal of Medicine1,904 citations Open access
Semantic Scholar
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Ya-Ping Yang, D. Muzny, F. Xia, Z. Niu +33 more
2014Journal of the American Medical Association (JAMA)1,345 citations Open access
Semantic Scholar
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney, Michelle M. Clark +13 more
2018npj Genomic Medicine419 citations Open access
Semantic Scholar
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
S. Kingsmore, Julie A. Cakici, Michelle M. Clark, Mary Gaughran +66 more
2019American Journal of Human Genetics345 citations Open access
Semantic Scholar
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Michelle M. Clark, Amber Hildreth, Serge Batalov, Yan Ding +57 more
2019Science Translational Medicine285 citations Open access
Semantic Scholar
Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients
J. Posey, J. Rosenfeld, Regis A. James, M. Bainbridge +19 more
2015Genetics in Medicine253 citations Open access
Semantic Scholar
Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy
C. Gonzaga-Jauregui, T. Harel, T. Gambin, M. Kousi +30 more
2015Cell Reports248 citations Open access
Semantic Scholar
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
G. McMichael, M. Bainbridge, E. Haan, M. Corbett +16 more
2015Molecular Psychiatry224 citations Open access
Semantic Scholar
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline
J. Reid, Andrew Carroll, N. Veeraraghavan, M. Dahdouli +12 more
2014BMC Bioinformatics223 citations Open access
Semantic Scholar
Mutations in NGLY1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation (ERAD) Pathway
G. Enns, V. Shashi, M. Bainbridge, M. Gambello +29 more
2014Genetics in Medicine213 citations Open access
Semantic Scholar
Germline mutations in shelterin complex genes are associated with familial glioma.
M. Bainbridge, Georgina Armstrong, M. Gramatges, A. Bertuch +35 more
2015Journal of the National Cancer Institute211 citations Open access
Semantic Scholar
Human CLP1 mutations alter tRNA biogenesis affecting both peripheral and central nervous system function
E. Karaca, S. Weitzer, D. Pehlivan, H. Shiraishi +40 more
2014Cell210 citations Open access
Semantic Scholar
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
D. Dimmock, Michelle M. Clark, Mary Gaughran, Julie A. Cakici +63 more
2020American Journal of Human Genetics180 citations Open access
Semantic Scholar
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
M. Bainbridge, Hao Hu, D. Muzny, L. Musante +10 more
2013Genome Medicine169 citations Open access
Semantic Scholar
Rapid whole genome sequencing has clinical utility in children in the pediatric intensive care unit
E. Sanford, Michelle M. Clark, Lauge Farnaes, Matthew R. Williams +14 more
2019Pediatric Critical Care Medicine145 citations Open access
Semantic Scholar
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
S. Kingsmore, Laurie D. Smith, Chris M. Kunard, M. Bainbridge +47 more
2022American Journal of Human Genetics142 citations Open access
Semantic Scholar
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy
J. Lupski, C. Gonzaga-Jauregui, Ya-Ping Yang, M. Bainbridge +9 more
2013Genome Medicine142 citations Open access
Semantic Scholar
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
Hsiang-Chih Lu, Qiu-Min Tan, Maxime W. C. Rousseaux, Wei Wang +33 more
2017Nature Genetics128 citations Open access
Semantic Scholar
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients with Left Ventricular Non-Compaction
K. Miszalski-Jamka, J. Jefferies, W. Mazur, J. Głowacki +17 more
2017Circulation: Cardiovascular Genetics113 citations Open access
Semantic Scholar
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
S. Lalani, Jing Zhang, C. Schaaf, Chester W. Brown +34 more
2014American Journal of Human Genetics108 citations Open access
Semantic Scholar
Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data
S. Haricharan, M. Bainbridge, P. Scheet, P. Brown
2014Breast Cancer Research and Treatment98 citations Open access
Semantic Scholar
Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene
M. Bekheirnia, N. Bekheirnia, M. Bainbridge, Shen Gu +32 more
2016Genetics in Medicine93 citations Open access
Semantic Scholar
Comprehensive profiling of DNA repair defects in breast cancer identifies a novel class of endocrine therapy resistance drivers
M. Anurag, N. Punturi, J. Hoog, M. Bainbridge +2 more
2018Clinical Cancer Research80 citations Open access
Semantic Scholar
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
F. L. Harms, K. Girisha, Andrew A. Hardigan, F. Kortüm +29 more
2016American Journal of Human Genetics79 citations Open access
Semantic Scholar
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
F. Xia, M. Bainbridge, T. Tan, M. Wangler +20 more
2014American Journal of Human Genetics70 citations Open access
Semantic Scholar
Loss of MutL disrupts Chk2-dependent cell cycle control through CDK4/6 to promote intrinsic endocrine therapy resistance in primary breast cancer
S. Haricharan, N. Punturi, Purba Singh, Kimberly R. Holloway +15 more
2017Cancer Discovery68 citations Open access
Semantic Scholar
Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia
R. Ramasamy, M. E. Bakırcıoğlu, Cenk Cengiz, E. Karaca +9 more
2015Fertility and Sterility67 citations Open access
Semantic Scholar
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle
M. Bainbridge, E. Cooney, Marcus J. Miller, A. Kennedy +7 more
2017Molecular Genetics and Metabolism63 citations Open access
Semantic Scholar
Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction
M. Bainbridge, E. Davis, Wen-Yee Choi, A. Dickson +9 more
2015Circulation: Cardiovascular Genetics55 citations Open access
Semantic Scholar
A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy, A Classic Single Gene Disorder
Li-Li Li, M. Bainbridge, Yan-Li Tan, J. Willerson +1 more
2017Circulation Research53 citations Open access
Semantic Scholar
Secondary findings and carrier test frequencies in a large multiethnic sample
T. Gambin, S. Jhangiani, J. Below, I. Campbell +10 more
2015Genome Medicine50 citations Open access
Semantic Scholar
Approaches to long-read sequencing in a clinical setting to improve diagnostic rate
Erica Sanford-Kobayashi, Serge Batalov, A. Wenger, Christine C. Lambert +9 more
2022Scientific Reports47 citations Open access
Semantic Scholar
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant
S. Morton, S. Prabhu, H. Lidov, Jia-Hai Shi +6 more
2017Cold Spring Harbor molecular case studies47 citations Open access
Semantic Scholar
POT1 mutation spectrum in tumor types commonly diagnosed among POT1-associated hereditary cancer syndrome families
Erica Y. Shen, J. Xiu, Giselle Y. López, R. Bentley +5 more
2020Journal of Medical Genetics46 citations Open access
Semantic Scholar
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
Regis A. James, I. Campbell, E. Chen, Philip M. Boone +7 more
2016Genome Medicine42 citations Open access
Semantic Scholar
Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing
Mallory J. Owen, Meredith S. Wright, Serge Batalov, Yonghyun Kwon +13 more
2023JAMA Network Open37 citations Open access
Semantic Scholar
SCN1A Variants Associated with Sudden Infant Death Syndrome
C. Brownstein, R. Goldstein, Christopher H. Thompson, Robin L. Haynes +11 more
2018Epilepsia36 citations Open access
Semantic Scholar
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney, Michelle M. Clark +13 more
2018npj Genomic Medicine33 citations Open access
Semantic Scholar
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
Alexandria T. M. Blackburn, N. Bekheirnia, Vanessa C. Uma, Mark E. Corkins +25 more
2019Genetics in Medicine29 citations Open access
Semantic Scholar
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots
Yan Ding, Mallory J. Owen, Jennie M. Le, Serge Batalov +13 more
2022npj Genomic Medicine26 citations Open access
Semantic Scholar
Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium
Ali Jalali, E. Amirian, M. Bainbridge, Georgina Armstrong +28 more
2015Scientific Reports26 citations Open access
Semantic Scholar
The genomic landscape of familial glioma
Dong-Joo Choi, Georgina Armstrong, B. Lozzi, P. Vijayaraghavan +87 more
2023Science Advances25 citations Open access
Semantic Scholar
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
A. Deshwar, C. Cytrynbaum, Harsha R. Murthy, Jessica Zon +41 more
2022Brain : a journal of neurology25 citations Open access
Semantic Scholar
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
C. Stanclift, Selina S Dwight, Kevin Lee, Quirine L. Eijkenboom +5 more
2022Orphanet Journal of Rare Diseases23 citations Open access
Semantic Scholar
Human genome meeting 2016
A. K. Srivastava, Y. Wang, R. Huang, C. Skinner +496 more
2016Human Genomics23 citations Open access
Semantic Scholar
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
B. Peterson, E. Hernandez, Charlotte A. Hobbs, Sabrina Malone-Jenkins +10 more
2023Genome Medicine22 citations Open access
Semantic Scholar
Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges
Laurie D. Smith, M. Bainbridge, R. Parad, A. Bhattacharjee
2020International Journal of Neonatal Screening20 citations Open access
Semantic Scholar
Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series
Daniel I. Jacobs, K. Fukumura, M. Bainbridge, Georgina Armstrong +8 more
2018Neuro-Oncology19 citations Open access
Semantic Scholar
Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics
Christopher E. Hopkins, Trisha J. Brock, T. Caulfield, M. Bainbridge
2022Molecular Aspects of Medicine18 citations Open access
Semantic Scholar

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