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Laura A Pace MD PhD
Laura A Pace MD PhD
Physician-Scientist | Founder | Board Director
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Cited by
Cited by
Year
Sharing and community curation of mass spectrometry data with Global Natural Products Social Molecular Networking
M Wang, JJ Carver, VV Phelan, LM Sanchez, N Garg, Y Peng, ...
Nature biotechnology 34 (8), 828-837, 2016
31912016
Postural orthostatic tachycardia syndrome (POTS): State of the science and clinical care from a 2019 National Institute of Health Expert Consensus Meeting
S Vernino, KM Bourne, LE Stiles, BP Grubb, A Fedorowski, JM Stewart, ...
Autonomic Neuroscience: Basic and Clinical, 2021
1312021
Adaptation of aerobic respiration to low O2 environments
H Han, J Hemp, LA Pace, H Ouyang, K Ganesan, JH Roh, F Daldal, ...
Proceedings of the National Academy of Sciences 108 (34), 14109-14114, 2011
1302011
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
DR Murdock, H Dai, LC Burrage, JA Rosenfeld, S Ketkar, MF Müller, ...
The Journal of clinical investigation 131 (1), 2021
1062021
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
V Béziat, SJ Tavernier, YH Chen, CS Ma, M Materna, A Laurence, J Staal, ...
Journal of Experimental Medicine 217 (6), 2020
1002020
Diagnosis of mast cell activation syndrome: a global “consensus-2”
LB Afrin, MB Ackerley, LS Bluestein, JH Brewer, JB Brook, AD Buchanan, ...
Diagnosis 8 (2), 137-152, 2021
812021
Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms
H Chung, MF Wangler, PC Marcogliese, J Jo, TA Ravenscroft, Z Zuo, ...
Neuron 106 (4), 589-606. e6, 2020
802020
Protein kinase G type II is required for night-to-day progression of the mammalian circadian clock
SA Tischkau, JW Mitchell, LA Pace, JW Barnes, JA Barnes, MU Gillette
Neuron 43 (4), 539-549, 2004
682004
De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism
MJG Sacoto, IA Tchasovnikarova, E Torti, C Forster, EH Andrew, I Anselm, ...
The American Journal of Human Genetics 107 (2), 352-363, 2020
652020
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
D Baldridge, MF Wangler, AN Bowman, S Yamamoto, T Schedl, SC Pak, ...
Orphanet Journal of Rare Diseases 16 (1), 206, 2021
622021
Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification
ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ...
The American Journal of Human Genetics 104 (6), 1127-1138, 2019
602019
Complex relationships between food, diet, and the microbiome
LA Pace, SE Crowe
Gastroenterology Clinics 45 (2), 253-265, 2016
602016
De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia
O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ...
The American Journal of Human Genetics 105 (2), 413-424, 2019
482019
Genomics of a phototrophic nitrite oxidizer: insights into the evolution of photosynthesis and nitrification
J Hemp, S Lücker, J Schott, LA Pace, JE Johnson, B Schink, H Daims, ...
The ISME journal 10 (11), 2669-2678, 2016
452016
The intergeniculate leaflet, but not the visual midbrain, mediates hamster circadian rhythm response to constant light
LP Morin, L Pace
Journal of biological rhythms 17 (3), 217-226, 2002
452002
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
MJ Bonder, C Smail, MJ Gloudemans, L Frésard, D Jakubosky, ...
Nature genetics 53 (3), 313-321, 2021
442021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
MA Cousin, BA Creighton, KA Breau, RC Spillmann, E Torti, S Dontu, ...
Nature genetics 53 (7), 1006-1021, 2021
402021
De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation
D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ...
The American Journal of Human Genetics 106 (4), 570-583, 2020
392020
Mast cell activation syndrome: a primer for the gastroenterologist
LB Weinstock, LA Pace, A Rezaie, LB Afrin, GJ Molderings
Digestive Diseases and Sciences 66, 965-982, 2021
382021
BICRA, a SWI/SNF complex member, is associated with BAF-disorder related phenotypes in humans and model organisms
S Barish, TS Barakat, BC Michel, N Mashtalir, JB Phillips, AM Valencia, ...
The American Journal of Human Genetics 107 (6), 1096-1112, 2020
372020
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