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Raymond J Louie
Raymond J Louie
Adresse e-mail validée de radonc.ucsf.edu - Page d'accueil
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Glutamine sensitivity analysis identifies the xCT antiporter as a common triple-negative breast tumor therapeutic target
LA Timmerman, T Holton, M Yuneva, RJ Louie, M Padró, A Daemen, ...
Cancer cell 24 (4), 450-465, 2013
5482013
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
B Sadikovic, MA Levy, J Kerkhof, E Aref-Eshghi, L Schenkel, A Stuart, ...
Genetics in Medicine 23 (6), 1065-1074, 2021
1222021
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ...
Human Genetics and Genomics Advances 3 (1), 2022
1002022
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
D Lessel, C Gehbauer, NC Bramswig, C Schluth-Bolard, ...
Brain 141 (8), 2299-2311, 2018
992018
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ...
Nature communications 9 (1), 4619, 2018
972018
A yeast phenomic model for the gene interaction network modulating CFTR-ΔF508 protein biogenesis.
RJ Louie, J Guo, JW Rodgers, R White, N Shah, S Pagant, P Kim, ...
Genome Medicine 4, 103, 2012
872012
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ...
Genome Medicine 10, 1-13, 2018
862018
Numerical chromosomal instability mediates susceptibility to radiation treatment
SF Bakhoum, L Kabeche, MD Wood, CD Laucius, D Qu, AM Laughney, ...
Nature communications 6 (1), 5990, 2015
842015
Delineation of a human Mendelian disorder of the DNA demethylation machinery: TET3 deficiency
DB Beck, A Petracovici, C He, HW Moore, RJ Louie, M Ansar, S Douzgou, ...
The American Journal of Human Genetics 106 (2), 234-245, 2020
652020
The histone demethylase KDM4B regulates peritoneal seeding of ovarian cancer
C Wilson, L Qiu, Y Hong, T Karnik, G Tadros, B Mau, T Ma, Y Mu, J New, ...
Oncogene 36 (18), 2565-2576, 2017
622017
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ...
Science advances 6 (49), eabc9207, 2020
522020
Cohesin complex-associated holoprosencephaly
P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ...
Brain 142 (9), 2631-2643, 2019
512019
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features
ES Stolerman, E Francisco, JL Stallworth, JR Jones, KG Monaghan, ...
American Journal of Medical Genetics Part A 179 (7), 1276-1286, 2019
432019
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
402020
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound
RJ Louie, QKG Tan, JB Gilner, RC Rogers, N Younge, SB Wechsler, ...
American Journal of Medical Genetics Part A 173 (5), 1219-1225, 2017
342017
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
MA Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ...
Human mutation 43 (11), 1609-1628, 2022
302022
KDM5A mutations identified in autism spectrum disorder using forward genetics
L El Hayek, IO Tuncay, N Nijem, J Russell, S Ludwig, K Kaur, X Li, ...
Elife 9, e56883, 2020
272020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
F Mochel, A Rastetter, B Ceulemans, K Platzer, S Yang, DN Shinde, ...
Brain 143 (12), 3564-3573, 2020
272020
Genome-independent hypoxic repression of estrogen receptor alpha in breast cancer cells
M Padró, RJ Louie, BV Lananna, AJ Krieg, LA Timmerman, DA Chan
BMC cancer 17, 1-16, 2017
242017
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency
SH Yu, T Wang, K Wiggins, RJ Louie, EF Merino, C Skinner, MB Cassera, ...
Genetics in Medicine 23 (7), 1305-1314, 2021
212021
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