| GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities … PYB Au, J You, O Caluseriu, J Schwartzentruber, J Majewski, FP Bernier, ... Human mutation 36 (10), 1009-1014, 2015 | 75 | 2015 |
| A syndromic intellectual disability disorder caused by variants in TELO2, a gene encoding a component of the TTT complex J You, NL Sobreira, DL Gable, J Jurgens, DK Grange, N Belnap, A Siniard, ... The American Journal of Human Genetics 98 (5), 909-918, 2016 | 36 | 2016 |
| γ-Secretase mutation in an African American family with hidradenitis suppurativa S Chen, P Mattei, J You, NL Sobreira, GA Hinds JAMA dermatology 151 (6), 668-670, 2015 | 32 | 2015 |
| An anadysplasia‐like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic … N Sobreira, P Modaff, G Steel, J You, S Nanda, J Hoover‐Fong, D Valle, ... American Journal of Medical Genetics Part A 167 (1), 159-163, 2015 | 17 | 2015 |
| Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma‐coloboma syndrome OF Chacón‐Camacho, N Sobreira, J You, RE Piña‐Aguilar, ... American Journal of Medical Genetics Part A 170 (7), 1934-1937, 2016 | 6 | 2016 |
| Cost analysis of celecoxib and conventional NSAIDS with or without gastroprotective agents for treatment of osteoarthritis and rheumatoid arthritis in Hong Kong JHS You, KKC Lee, FKL Chan, SS Ho, TY Chan, PS Au, WH Lau Alimen Pharmacol Ther 16, 2089-96, 2002 | 1 | 2002 |
