Követés
Laura A Pace MD PhD
Laura A Pace MD PhD
Stanford University | Physician-Scientist | Founder
E-mail megerősítve itt: stanford.edu
Cím
Hivatkozott rá
Hivatkozott rá
Év
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
38092016
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
2002021
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
1452021
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
1422011
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), e20191804, 2020
1232020
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
1082020
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
1052021
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
822020
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
802019
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
732021
Complex relationships between food, diet and the microbiome
LA Pace, SE Crowe
Gastroenterology Clinics of North America 45 (2), 253, 2016
682016
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
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
642021
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
642021
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
582020
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
552019
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
542021
Postural orthostatic tachycardia syndrome (POTS): Priorities for POTS care and research from a 2019 National Institutes of Health Expert Consensus Meeting–Part 2
SR Raj, KM Bourne, LE Stiles, MG Miglis, MM Cortez, AJ Miller, ...
Autonomic Neuroscience 235, 102836, 2021
522021
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
502016
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
462020
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Cikkek 1–20