Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study A Rauch, D Wieczorek, E Graf, T Wieland, S Endele, T Schwarzmayr, ... The Lancet 380 (9854), 1674-1682, 2012 | 1272 | 2012 |
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome E Rao, B Weiss, M Fukami, A Rump, B Niesler, A Mertz, K Muroya, ... Nature genetics 16 (1), 54-63, 1997 | 1202 | 1997 |
Clinical practice guidelines for the care of girls and women with Turner Syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. BPF Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO ... Eur J Endocrinol. 177(3): 1-70, 2017 177, 1-70, 2017 | 1189* | 2017 |
Clinical practice guidelines for the care of girls and women with Turner Syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. BPF Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO ... Eur J Endocrinol. 177, 1-70, 2017 | 1189 | 2017 |
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation S Berkel, CR Marshall, B Weiss, J Howe, R Roeth, U Moog, V Endris, ... Nature genetics 42 (6), 489-491, 2010 | 674 | 2010 |
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments CS Leblond, C Nava, A Polge, J Gauthier, G Huguet, S Lumbroso, ... PLoS genetics 10 (9), e1004580, 2014 | 669 | 2014 |
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes S Endele, G Rosenberger, K Geider, B Popp, C Tamer, I Stefanova, ... Nature genetics 42 (11), 1021-1026, 2010 | 594 | 2010 |
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome M Clement-Jones, S Schiller, E Rao, RJ Blaschke, A Zuniga, R Zeller, ... Human molecular genetics 9 (5), 695-702, 2000 | 564 | 2000 |
Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter D Gründemann, B Schechinger, G Rappold, E Schömig Nature neuroscience 1 (5), 349-351, 1998 | 490 | 1998 |
SHANK1 deletions in males with autism spectrum disorder D Sato, AC Lionel, CS Leblond, A Prasad, D Pinto, S Walker, I O'Connor, ... The American Journal of Human Genetics 90 (5), 879-887, 2012 | 408 | 2012 |
Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal HJ Cooke, WRA Brown, GA Rappold Nature 317 (6039), 687-692, 1985 | 396 | 1985 |
Somatic ATM Mutations Indicate a Pathogenic Role of ATM in B-Cell Chronic Lymphocytic Leukemia C Schaffner, S Stilgenbauer, GA Rappold, H Döhner, P Lichter Blood, The Journal of the American Society of Hematology 94 (2), 748-753, 1999 | 392 | 1999 |
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency G Rappold, WF Blum, EP Shavrikova, BJ Crowe, R Roeth, CA Quigley, ... Journal of medical genetics 44 (5), 306-313, 2007 | 349 | 2007 |
A cluster of sulfatase genes on Xp22. 3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy B Franco, G Meroni, G Parenti, J Levilliers, L Bernard, M Gebbia, L Cox, ... Cell 81 (1), 15-25, 1995 | 348 | 1995 |
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability J Hoyer, AB Ekici, S Endele, B Popp, C Zweier, A Wiesener, E Wohlleber, ... The American Journal of Human Genetics 90 (3), 565-572, 2012 | 305 | 2012 |
Deletions of the Homeobox Gene SHOX (Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short Stature GA Rappold, M Fukami, B Niesler, S Schiller, W Zumkeller, M Bettendorf, ... The Journal of Clinical Endocrinology & Metabolism 87 (3), 1402-1406, 2002 | 302 | 2002 |
Targeted Mutation Reveals Essential Functions of the Homeodomain Transcription Factor Shox2 in Sinoatrial and Pacemaking Development RJ Blaschke, ND Hahurij, S Kuijper, S Just, LJ Wisse, K Deissler, ... Circulation 115 (14), 1830-1838, 2007 | 296 | 2007 |
Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E B Niesler, B Frank, J Kapeller, GA Rappold Gene 310, 101-111, 2003 | 295 | 2003 |
The pseudoautosomal regions of the human sex chromosomes GA Rappold Human genetics 92, 315-324, 1993 | 291 | 1993 |
5-HT3 receptors: role in disease and target of drugs J Walstab, G Rappold, B Niesler Pharmacology & therapeutics 128 (1), 146-169, 2010 | 257 | 2010 |