Disease pathways at the Rat Genome Database Pathway Portal: genes in context-a network approach to understanding the molecular mechanisms of disease
Victoria Petri , G Thomas Hayman , Marek Tutaj , Jennifer R Smith
Human Genomics 8 ( 1) 17 -17
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2014
Rat Strain Ontology: structured controlled vocabulary designed to facilitate access to strain data at RGD
Rajni Nigam , Diane H Munzenmaier , Elizabeth A Worthey , Melinda R Dwinell
Journal of Biomedical Semantics 4 ( 1) 36 -36
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2013
The clinical measurement, measurement method and experimental condition ontologies: expansion, improvements and new applications
Jennifer R Smith , Carissa A Park , Rajni Nigam , Stanley JF Laulederkind
Journal of Biomedical Semantics 4 ( 1) 26 -26
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2013
The pathway ontology - updates and applications.
Victoria Petri , Pushkala Jayaraman , Marek Tutaj , G Hayman
Journal of Biomedical Semantics 5 ( 1) 7 -7
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2014
Good laboratory practice for clinical next-generation sequencing informatics pipelines
Amy S Gargis , Lisa Kalman , David P Bick , Cristina da Silva
Nature Biotechnology 33 ( 7) 689 -693
104
2015
Programmatic Detection of Diploid-Triploid Mixoploidy via Whole Genome Sequencing
James M Holt , Camille L Birch , Donna M Brown , Joy D Cogan
bioRxiv 371468
2018
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Ning Liu , Kelly Schoch , Xi Luo , Loren DM Pena
Human Molecular Genetics 27 ( 14) 2454 -2465
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2018
Comparative analysis of the kinomes of three pathogenic trypanosomatids: Leishmania major, Trypanosoma brucei and Trypanosoma cruzi.
Marilyn Parsons , Elizabeth A Worthey , Pauline N Ward , Jeremy C Mottram
BMC Genomics 6 ( 1) 127 -127
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A timely arrival for genomic medicine
Alan N Mayer , David P Dimmock , Marjorie J Arca , David P Bick
Genetics in Medicine 13 ( 3) 195 -196
72
2011
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
Elizabeth A Worthey , Alan N Mayer , Grant D Syverson , Daniel Helbling
Genetics in Medicine 13 ( 3) 255 -262
796
2011
Taking U out, with two nucleases?
I Saira Mian , Elizabeth A Worthey , Reza Salavati
BMC Bioinformatics 7 ( 1) 305 -305
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2006
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech
Elizabeth A Worthey , Gordana Raca , Jennifer J Laffin , Brandon M Wilk
Journal of Neurodevelopmental Disorders 5 ( 1) 29 -29
76
2013
The genome sequence of Trypanosoma cruzi, etiologic agent of Chagas disease
Najib M El-Sayed , Peter J Myler , Daniella C Bartholomeu , Daniel Nilsson
Science 309 ( 5733) 409 -415
1,151
2005
Comparative genomics of trypanosomatid parasitic protozoa.
Najib M El-Sayed , Peter J Myler , Gaëlle Blandin , Matthew Berriman
Science 309 ( 5733) 404 -409
656
2005
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project
Sarah L Stenton , Melanie C O’Leary , Gabrielle Lemire , Grace E VanNoy
Human Genomics 18 ( 1) 44 -44
3
2024
The genome of the kinetoplastid parasite, Leishmania major.
Alasdair C Ivens , Christopher S Peacock , Elizabeth A Worthey , Lee Murphy
Science 309 ( 5733) 436 -442
1,674
2005
Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features
Queenie K-G Tan , Heidi Cope , Rebecca C Spillmann , Nicholas Stong
Molecular Case Studies 4 ( 5) a003046 -a003046
33
2018
A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing
Diane B Zastrow , Jennefer N Kohler , Devon Bonner , Chloe M Reuter
Journal of Genetic Counseling 28 ( 2) 213 -228
8
2019
Molecular Characterization of Juxtaglomerular Cell Tumors: Evidence of Alterations in MAPK–RAS Pathway
João Lobo , Sofia Canete-Portillo , Maria Del Carmen Rodriguez Pena , Jesse K McKenney
Modern Pathology 37 ( 6) 100492 -100492
2024
Genetic factors help explain the variable responses of young children with cystic fibrosis to vitamin D supplements
HuiChuan J Lai , Jie Song , Qiongshi Lu , Sangita G Murali
Clinical Nutrition ESPEN 51 367 -376
4
2022