| Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta Y Alanay, H Avaygan, N Camacho, GE Utine, K Boduroglu, D Aktas, ... The American Journal of Human Genetics 86 (4), 551-559, 2010 | 378 | 2010 |
| CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta D Baldridge, U Schwarze, R Morello, J Lennington, TK Bertin, JM Pace, ... Human mutation 29 (12), 1435-1442, 2008 | 259 | 2008 |
| Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome BP Kelley, F Malfait, L Bonafe, D Baldridge, E Homan, S Symoens, ... Journal of Bone and Mineral Research 26 (3), 666-672, 2011 | 207 | 2011 |
| Diagnostic utility of transcriptome sequencing for rare Mendelian diseases H Lee, AY Huang, L Wang, AJ Yoon, G Renteria, A Eskin, RH Signer, ... Genetics in Medicine 22 (3), 490-499, 2020 | 189 | 2020 |
| Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome MF Wangler, C Gonzaga-Jauregui, T Gambin, S Penney, T Moss, ... PLoS genetics 10 (3), e1004258, 2014 | 136 | 2014 |
| Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: a randomized clinical trial ID Krantz, L Medne, JM Weatherly, KT Wild, S Biswas, B Devkota, ... JAMA pediatrics 175 (12), 1218-1226, 2021 | 130 | 2021 |
| The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results D Baldridge, J Heeley, M Vineyard, L Manwaring, TL Toler, E Fassi, ... Genetics in Medicine 19 (9), 1040-1048, 2017 | 114 | 2017 |
| Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation JR Shapiro, C Lietman, M Grover, JT Lu, S Nagamani, BC Dawson, ... Journal of Bone and Mineral Research 28 (7), 1523-1530, 2013 | 88 | 2013 |
| Delineation of a human mendelian disorder of the DNA demethylation machinery: TET3 deficiency DB Beck, A Petracovici, C He, HW Moore, RJ Louie, M Ansar, S Douzgou, ... The American Journal of Human Genetics 106 (2), 234-245, 2020 | 82 | 2020 |
| Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ... The American Journal of Human Genetics 104 (6), 1127-1138, 2019 | 78 | 2019 |
| Signaling pathways in human skeletal dysplasias D Baldridge, O Shchelochkov, B Kelley, B Lee Annual Review of Genomics and Human Genetics 11 (1), 189-217, 2010 | 78 | 2010 |
| Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision D Baldridge, MF Wangler, AN Bowman, S Yamamoto, T Schedl, SC Pak, ... Orphanet Journal of Rare Diseases 16 (1), 206, 2021 | 73 | 2021 |
| Generalized connective tissue disease in Crtap-/-mouse D Baldridge, J Lennington, MA Weis, EP Homan, MM Jiang, E Munivez, ... PloS one 5 (5), e10560, 2010 | 73 | 2010 |
| Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome JA Wambach, DJ Wegner, N Patni, M Kircher, MC Willing, D Baldridge, ... The American Journal of Human Genetics 103 (6), 968-975, 2018 | 67 | 2018 |
| De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ... The American Journal of Human Genetics 106 (4), 570-583, 2020 | 57 | 2020 |
| Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 57 | 2020 |
| De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ... The American Journal of Human Genetics 105 (2), 413-424, 2019 | 55 | 2019 |
| De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 53 | 2020 |
| Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome CT Kozycki, S Kodati, L Huryn, H Wang, BM Warner, P Jani, D Hammoud, ... Annals of the rheumatic diseases 81 (10), 1453-1464, 2022 | 46 | 2022 |
| De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects A Accogli, S Calabretta, J St-Onge, N Boudrahem-Addour, ... The American Journal of Human Genetics 105 (4), 854-868, 2019 | 42 | 2019 |
