| Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines NE Braverman, GV Raymond, WB Rizzo, AB Moser, ME Wilkinson, ... Molecular genetics and metabolism 117 (3), 313-321, 2016 | 242 | 2016 |
| Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group CC Wu, MJ Econs, LA DiMeglio, KL Insogna, MA Levine, PJ Orchard, ... The Journal of Clinical Endocrinology & Metabolism 102 (9), 3111-3123, 2017 | 215 | 2017 |
| Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa PS Kishnani, ET Rush, P Arundel, N Bishop, K Dahir, W Fraser, ... Molecular genetics and metabolism 122 (1-2), 4-17, 2017 | 98 | 2017 |
| Mid-term results of femoral and tibial osteotomies and Fassier-Duval nailing in children with osteogenesis imperfecta KA Azzam, ET Rush, BR Burke, AM Nabower, PW Esposito Journal of Pediatric Orthopaedics 38 (6), 331-336, 2018 | 81 | 2018 |
| Genomic answers for children: Dynamic analyses of> 1000 pediatric rare disease genomes ASA Cohen, EG Farrow, AT Abdelmoity, JT Alaimo, SM Amudhavalli, ... Genetics in Medicine 24 (6), 1336-1348, 2022 | 53 | 2022 |
| Haploinsufficiency of the notch ligand DLL1 causes variable neurodevelopmental disorders B Fischer-Zirnsak, L Segebrecht, M Schubach, P Charles, E Alderman, ... The American Journal of Human Genetics 105 (3), 631-639, 2019 | 49 | 2019 |
| A multicenter study to evaluate pulmonary function in osteogenesis imperfecta A Tam, S Chen, E Schauer, I Grafe, V Bandi, JR Shapiro, RD Steiner, ... Clinical genetics 94 (6), 502-511, 2018 | 37 | 2018 |
| Four new patients with Gomez–Lopez‐Hernandez syndrome and proposed diagnostic criteria ET Rush, MP Adam, RD Clark, C Curry, JE Hartmann, WB Dobyns, ... American Journal of Medical Genetics Part A 161 (2), 320-326, 2013 | 37 | 2013 |
| A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome TG Drivas, D Li, D Nair, JT Alaimo, M Alders, J Altmüller, TS Barakat, ... European Journal of Human Genetics 28 (10), 1422-1431, 2020 | 31 | 2020 |
| Childhood hypophosphatasia: to treat or not to treat ET Rush Orphanet Journal of Rare Diseases 13, 1-5, 2018 | 29 | 2018 |
| Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations LH Rodan, RC Spillmann, HT Kurata, SM Lamothe, J Maghera, RA Jamra, ... Genetics in medicine 23 (10), 1922-1932, 2021 | 26 | 2021 |
| Jansen metaphyseal chondrodysplasia due to heterozygous H223R-PTH1R mutations with or without overt hypercalcemia S Nampoothiri, E Fernández-Rebollo, D Yesodharan, TJ Gardella, ... The Journal of Clinical Endocrinology & Metabolism 101 (11), 4283-4289, 2016 | 26 | 2016 |
| Genetically targeted dipeptidyl peptidase-4 inhibitor use in a patient with a novel mutation of MODY type 4 C Mangrum, E Rush, V Shivaswamy Clinical Medicine Insights: Endocrinology and Diabetes 8, CMED. S31926, 2015 | 25 | 2015 |
| Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V JM Retrouvey, D Taqi, F Tamimi, D Dagdeviren, FH Glorieux, B Lee, ... European journal of medical genetics 62 (12), 103606, 2019 | 24 | 2019 |
| Mobility in osteogenesis imperfecta: a multicenter North American study KM Kruger, A Caudill, M Rodriguez Celin, SCS Nagamani, JR Shapiro, ... Genetics in Medicine 21 (10), 2311-2318, 2019 | 24 | 2019 |
| Molecular diagnoses of X‐linked and other genetic hypophosphatemias: Results from a sponsored genetic testing program ET Rush, B Johnson, S Aradhya, D Beltran, SL Bristow, S Eisenbeis, ... Journal of Bone and Mineral Research 37 (2), 202-214, 2020 | 20 | 2020 |
| Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling M Bosakova, SP Abraham, A Nita, E Hruba, M Buchtova, SP Taylor, ... EMBO Molecular Medicine 12 (11), e11739, 2020 | 20 | 2020 |
| Low bone mineral density is a common feature of Zellweger spectrum disorders ET Rush, JL Goodwin, NE Braverman, WB Rizzo Molecular Genetics and Metabolism 117 (1), 33-37, 2016 | 19 | 2016 |
| Initial experience with percutaneous IM rodding of the humeri in children with osteogenesis imperfecta LS Grossman, AL Price, ET Rush, JL Goodwin, MJ Wallace, PW Esposito Journal of Pediatric Orthopaedics 38 (9), 484-489, 2018 | 18 | 2018 |
| Echocardiographic phenotype in osteogenesis imperfecta varies with disease severity ET Rush, L Li, JL Goodwin, RM Kreikemeier, M Craft, DA Danford, S Kutty Heart 103 (6), 443-448, 2017 | 17 | 2017 |
