| LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development Y Gong, RB Slee, N Fukai, G Rawadi, S Roman-Roman, ... Cell 107 (4), 513-523, 2001 | 2668 | 2001 |
| Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans SP Robertson, SRF Twigg, AJ Sutherland-Smith, V Biancalana, RJ Gorlin, ... Nature genetics 33 (4), 487-491, 2003 | 466 | 2003 |
| Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy CA Kim, M Delépine, E Boutet, H El Mourabit, S Le Lay, M Meier, ... The Journal of Clinical Endocrinology & Metabolism 93 (4), 1129-1134, 2008 | 451 | 2008 |
| Serum leptin level is a regulator of bone mass F Elefteriou, S Takeda, K Ebihara, J Magre, N Patano, C Ae Kim, Y Ogawa, ... Proceedings of the National Academy of Sciences 101 (9), 3258-3263, 2004 | 421 | 2004 |
| Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy CH Gonzalez, MJ Marques-Dias, CA Kim, SMM Sugayama, JA Da Paz, ... The Lancet 351 (9116), 1624-1627, 1998 | 368 | 1998 |
| Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss MA Simpson, MD Irving, E Asilmaz, MJ Gray, D Dafou, FV Elmslie, ... Nature genetics 43 (4), 303-305, 2011 | 346 | 2011 |
| Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis D Krakow, SP Robertson, LM King, T Morgan, ET Sebald, C Bertolotto, ... Nature genetics 36 (4), 405-410, 2004 | 306 | 2004 |
| Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment R Giugliani, A Federhen, MV Muñoz Rojas, T Vieira, O Artigalás, ... Genetics and molecular biology 33, 589-604, 2010 | 263 | 2010 |
| Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome GL Yamamoto, M Aguena, M Gos, C Hung, J Pilch, S Fahiminiya, ... Journal of medical genetics 52 (6), 413-421, 2015 | 256 | 2015 |
| Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ... The American Journal of Human Genetics 90 (2), 308-313, 2012 | 195 | 2012 |
| A clinical study of 77 patients with mucopolysaccharidosis type II IVD Schwartz, MG Ribeiro, JG Mota, MBP Toralles, P Correia, D Horovitz, ... Acta Paediatrica 96, 63-70, 2007 | 172 | 2007 |
| Prenatal exposure to misoprostol and vascular disruption defects: a case‐control study FR Vargas, L Schuler‐Faccini, D Brunoni, C Kim, VFA Meloni, ... American journal of medical genetics 95 (4), 302-306, 2000 | 161 | 2000 |
| Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects LA Mavrogiannis, I Antonopoulou, A Baxová, S Kutílek, CA Kim, ... Nature genetics 27 (1), 17-18, 2001 | 156 | 2001 |
| Genomic imbalances associated with müllerian aplasia C Cheroki, ACV Krepischi-Santos, K Szuhai, V Brenner, CAE Kim, PA Otto, ... Journal of medical genetics 45 (4), 228-232, 2008 | 151 | 2008 |
| A molecular and clinical study of Larsen syndrome caused by mutations in FLNB LS Bicknell, C Farrington-Rock, Y Shafeghati, P Rump, Y Alanay, ... Journal of medical genetics 44 (2), 89-98, 2007 | 147 | 2007 |
| Mechanisms of ring chromosome formation, ring instability and clinical consequences RS Guilherme, VF Ayres Meloni, CA Kim, R Pellegrino, SS Takeno, ... BMC medical genetics 12, 1-7, 2011 | 145 | 2011 |
| Williams syndrome BA Kozel, B Barak, CA Kim, CB Mervis, LR Osborne, M Porter, BR Pober Nature Reviews Disease Primers 7 (1), 42, 2021 | 143 | 2021 |
| Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients MC Varela, F Kok, N Setian, CA Kim, CP Koiffmann Clinical genetics 67 (1), 47-52, 2005 | 143 | 2005 |
| Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations ACV Krepischi-Santos, AM Vianna-Morgante, FS Jehee, ... Cytogenetic and genome research 115 (3-4), 254-261, 2006 | 141 | 2006 |
| SHOX mutations in idiopathic short stature and Leri‐Weill dyschondrosteosis: frequency and phenotypic variability AAL Jorge, SC Souza, MY Nishi, AE Billerbeck, DCC Libório, CA Kim, ... Clinical endocrinology 66 (1), 130-135, 2007 | 136 | 2007 |
