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 | 557 | 2013 |
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 | 130 | 2021 |
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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 | 102 | 2018 |
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 | 101 | 2018 |
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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 | 87 | 2012 |
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 | 86 | 2015 |
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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 | 63 | 2017 |
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 | 55 | 2020 |
Cohesin complex-associated holoprosencephaly P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ... Brain 142 (9), 2631-2643, 2019 | 52 | 2019 |
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 | 45 | 2019 |
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 | 40 | 2020 |
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 | 36 | 2022 |
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 | 34 | 2017 |
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 | 29 | 2020 |
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 | 28 | 2020 |
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 | 24 | 2017 |
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 | 23 | 2021 |