| Pompe disease diagnosis and management guideline PS Kishnani, RD Steiner, D Bali, K Berger, BJ Byrne, LE Case, ... Genetics in Medicine 8 (5), 267-288, 2006 | 750 | 2006 |
| Osteogenesis imperfecta PH Byers, WG Cole Connective tissue and its heritable disorders: molecular, genetic, and …, 2002 | 737 | 2002 |
| Mutations in the human sterol Δ7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome CA Wassif, C Maslen, S Kachilele-Linjewile, D Lin, LM Linck, WE Connor, ... The American Journal of Human Genetics 63 (1), 55-62, 1998 | 465 | 1998 |
| Bisphosphonate therapy for osteogenesis imperfecta K Dwan, CA Phillipi, RD Steiner, D Basel Cochrane database of systematic reviews, 2016 | 445 | 2016 |
| Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) P Harmatz, CB Whitley, L Waber, R Pais, R Steiner, B Plecko, P Kaplan, ... The Journal of pediatrics 144 (5), 574-580, 2004 | 331 | 2004 |
| Genetic counseling and screening of consanguineous couples and their offspring: Recommendations of the National Society of Genetic Counselors RL Bennett, AG Motulsky, A Bittles, L Hudgins, S Uhrich, DL Doyle, ... Journal of genetic counseling 11 (2), 97-119, 2002 | 293 | 2002 |
| Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects SW Robinson, CD Morris, E Goldmuntz, MD Reller, MA Jones, RD Steiner, ... The American Journal of Human Genetics 72 (4), 1047-1052, 2003 | 263 | 2003 |
| Screening and treatment for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force EM Haney, LH Huffman, C Bougatsos, M Freeman, RD Steiner, ... Pediatrics 120 (1), e189-e214, 2007 | 252 | 2007 |
| Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant … P Harmatz, R Giugliani, IVD Schwartz, N Guffon, EL Teles, MCS Miranda, ... Molecular genetics and metabolism 94 (4), 469-475, 2008 | 241 | 2008 |
| Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study LM Ward, F Rauch, MP Whyte, J D'astous, PE Gates, D Grogan, EL Lester, ... The Journal of Clinical Endocrinology & Metabolism 96 (2), 355-364, 2011 | 238 | 2011 |
| The near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndrome DM Sikora, K Pettit‐Kekel, J Penfield, LS Merkens, RD Steiner American Journal of Medical Genetics Part A 140 (14), 1511-1518, 2006 | 226 | 2006 |
| Agalsidase alfa and kidney dysfunction in Fabry disease M West, K Nicholls, A Mehta, JTR Clarke, R Steiner, M Beck, BA Barshop, ... Journal of the American Society of Nephrology 20 (5), 1132-1139, 2009 | 221 | 2009 |
| Newborn screening for Krabbe disease: the New York State model PK Duffner, M Caggana, JJ Orsini, DA Wenger, MC Patterson, CJ Crosley, ... Pediatric neurology 40 (4), 245-252, 2009 | 217 | 2009 |
| Bisphosphonate therapy for osteogenesis imperfecta CA Phillipi, T Remmington, RD Steiner Cochrane Database of Systematic Reviews, 2008 | 201 | 2008 |
| Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial N Bishop, S Adami, SF Ahmed, J Antón, P Arundel, CP Burren, ... The Lancet 382 (9902), 1424-1432, 2013 | 199 | 2013 |
| Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition D Basel, RD Steiner Genetics in medicine 11 (6), 375-385, 2009 | 192 | 2009 |
| Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith–Lemli–Opitz syndrome CA Wassif, P Zhu, L Kratz, PA Krakowiak, KP Battaile, FF Weight, ... Human Molecular Genetics 10 (6), 555-564, 2001 | 187 | 2001 |
| Clinical course of sly syndrome (mucopolysaccharidosis type VII) AM Montaño, N Lock-Hock, RD Steiner, BH Graham, M Szlago, ... Journal of medical genetics 53 (6), 403-418, 2016 | 179 | 2016 |
| Risk factors for premature ovarian failure in females with galactosemia NV Guerrero, RH Singh, A Manatunga, GT Berry, RD Steiner, LJ Elsas II The Journal of pediatrics 137 (6), 833-841, 2000 | 161 | 2000 |
| Klippel‐Trenaunay‐Weber syndrome associated with a 5: 11 balanced translocation AJ Whelan, MS Watson, FD Porter, RD Steiner American journal of medical genetics 59 (4), 492-494, 1995 | 155 | 1995 |
