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Katrina Dipple
Katrina Dipple
University of Los Angeles California
Verified email at mednet.ucla.edu
Title
Cited by
Cited by
Year
Clinical exome sequencing for genetic identification of rare Mendelian disorders
H Lee, JL Deignan, N Dorrani, SP Strom, S Kantarci, F Quintero-Rivera, ...
Jama 312 (18), 1880-1887, 2014
10692014
Phenotypes of patients with “simple” Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics
KM Dipple, ERB McCabe
The American Journal of Human Genetics 66 (6), 1729-1735, 2000
4652000
Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks
X Yang, JL Deignan, H Qi, J Zhu, S Qian, J Zhong, G Torosyan, S Majid, ...
Nature genetics 41 (4), 415-423, 2009
3232009
Modifier genes convert “simple” Mendelian disorders to complex traits
KM Dipple, ERB McCabe
Molecular genetics and metabolism 71 (1-2), 43-50, 2000
3052000
Single-gene disorders: what role could moonlighting enzymes play?
G Sriram, JA Martinez, ERB McCabe, JC Liao, KM Dipple
The American Journal of Human Genetics 76 (6), 911-924, 2005
2502005
Laboratory guide to the methods in biochemical genetics
N Blau, M Duran, KM Gibson
Springer, 2008
2102008
Ethical and policy issues in genetic testing and screening of children
Committee on Bioethics, Committee on Genetics, and, ...
Pediatrics 131 (3), 620-622, 2013
1932013
MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome
J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ...
The American Journal of Human Genetics 100 (6), 843-853, 2017
1752017
The undiagnosed diseases network: accelerating discovery about health and disease
RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ...
The American Journal of Human Genetics 100 (2), 185-192, 2017
1562017
Consequences of complexity within biological networks: robustness and health, or vulnerability and disease
KM Dipple, JK Phelan, ERB McCabe
Molecular genetics and metabolism 74 (1-2), 45-50, 2001
1222001
Targeted long-read sequencing identifies missing disease-causing variation
DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ...
The American Journal of Human Genetics 108 (8), 1436-1449, 2021
1192021
A syndromic neurodevelopmental disorder caused by de novo variants in EBF3
HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ...
The American Journal of Human Genetics 100 (1), 128-137, 2017
1132017
Parameters of care for craniosynostosis: craniofacial and neurologic surgery perspectives
SM Warren, MR Proctor, SP Bartlett, JP Blount, SR Buchman, W Burnett, ...
Plastic and reconstructive surgery 129 (3), 731-737, 2012
1072012
IRF2BPL is associated with neurological phenotypes
PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ...
The American Journal of Human Genetics 103 (2), 245-260, 2018
892018
Complex compound inheritance of lethal lung developmental disorders due to disruption of the TBX-FGF pathway
JA Karolak, M Vincent, G Deutsch, T Gambin, B Cogné, O Pichon, ...
The American Journal of Human Genetics 104 (2), 213-228, 2019
872019
Human ARX gene: genomic characterization and expression
R Ohira, YH Zhang, W Guo, K Dipple, SL Shih, J Doerr, BL Huang, LJ Fu, ...
Molecular genetics and metabolism 77 (1-2), 179-188, 2002
812002
Glycerol kinase deficiency: evidence for complexity in a single gene disorder
K Dipple, YH Zhang, BL Huang, L McCabe, J Dallongeville, T Inokuchi, ...
Human genetics 109, 55-62, 2001
782001
Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency
SD Cederbaum, S Koo-McCoy, I Tein, BYL Hsu, A Ganguly, E Vilain, ...
Molecular genetics and metabolism 77 (3), 195-201, 2002
752002
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
V Shashi, K Schoch, R Spillmann, H Cope, QKG Tan, N Walley, L Pena, ...
Genetics in Medicine 21 (1), 161-172, 2019
742019
Physician's guide to the treatment and follow-up of metabolic diseases
N Blau, JTR Clarke, GF Hoffmann, J Leonard
Springer-Verlag Berlin Heidelberg, 2006
732006
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