| MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 178 | 2017 |
| The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 159 | 2017 |
| A syndromic neurodevelopmental disorder caused by de novo variants in EBF3 HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ... The American Journal of Human Genetics 100 (1), 128-137, 2017 | 114 | 2017 |
| De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype V Shashi, LDM Pena, K Kim, B Burton, M Hempel, K Schoch, ... The American Journal of Human Genetics 99 (4), 991-999, 2016 | 68 | 2016 |
| 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 | 60 | 2019 |
| Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) CR Ferreira, ME Hackbarth, SG Ziegler, KS Pan, MS Roberts, DR Rosing, ... Genetics in Medicine 23 (2), 396-407, 2021 | 55 | 2021 |
| A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay K Schoch, L Meng, S Szelinger, DR Bearden, A Stray-Pedersen, OL Busk, ... The American Journal of Human Genetics 100 (2), 343-351, 2017 | 48 | 2017 |
| Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies CR Ferreira, K Kintzinger, ME Hackbarth, U Botschen, Y Nitschke, ... Journal of Bone and Mineral Research 36 (11), 2193-2202, 2021 | 43 | 2021 |
| Free sialic acid storage disorder: Progress and promise M Huizing, ME Hackbarth, DR Adams, M Wasserstein, MC Patterson, ... Neuroscience letters 755, 135896, 2021 | 20 | 2021 |
| Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms TA Cassini, L Duncan, LC Rives, JH Newman, JA Phillips, ME Koziura, ... Molecular Genetics & Genomic Medicine 7 (6), e00676, 2019 | 19 | 2019 |
| Undiagnosed Diseases Network, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV. Lysosomal storage and albinism due to effects of a de novo … ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ... Am J Hum Genet 104, 1127-38, 2019 | 8 | 2019 |
| A novel experimental mouse model to investigate a free sialic acid storage disorder (Salla disease) MS Sabir, ME Hackbarth, JD Burke, LJ Garrett, G Elliott, C Rivas, ... Molecular Genetics and Metabolism 135 (2), S107, 2022 | 1 | 2022 |
| Collaborative research efforts drive therapeutic advancements for free sialic acid storage disorder (FSASD) MC Malicdan, DR Adams, PJ Brooks, K Dobrenis, WA Gahl, B Gasnier, ... Molecular Genetics and Metabolism 141 (2), 107948, 2024 | | 2024 |
| Investigating the role of SLC17A5 in myelination and neurodegeneration in a murine model of free sialic acid storage disorder M Hossain, MS Sabir, ME Hackbarth, M Huizing, WA Gahl, MCV Malicdan Molecular Genetics and Metabolism 141 (2), 107885, 2024 | | 2024 |
| Cell-based functional assays for free sialic acid storage disorder M Huizing, P Leoyklang, ME Hackbarth, MS Sabir, K Dobrenis, C Lion, ... Molecular Genetics and Metabolism 141 (2), 107889, 2024 | | 2024 |
| A concerted action to explore therapies for free sialic acid storage disease (FSASD) M Huizing, MS Sabir, ME Hackbarth, LA Wolfe, MP Wasserstein, ... Molecular Genetics and Metabolism 135 (2), S59-S60, 2022 | | 2022 |
| ENPP1-Deficient Patients Present With Both Skeletal Complications and Ectopic Calcification F Rutsch, Y Nitschke, K Kintzinger, M Hackbarth, U Botschen, R Gafni, ... JOURNAL OF BONE AND MINERAL RESEARCH 37, 248-248, 2022 | | 2022 |
| A Natural History Study In Patients With ENPP1 Deficiency or Severe ABCC6 deficiency F Rutsch, Y Nitschke, K Kintzinger, M Hackbarth, U Botschen, S Wang, ... JOURNAL OF BONE AND MINERAL RESEARCH 35, 282-282, 2020 | | 2020 |
| A natural history study in patients with ENPP1 deficiency Y Nitschke, K Kintzinger, M Hackbarth, U Botschen, S Wang, R Gafni, ... Bone Reports 13, 100704, 2020 | | 2020 |
| Lysosomal storage, neurodegeneration, and albinism due to effects of a de novo CLCN7 mutation on lysosomal acidification E Nicoli, M Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1333-1334, 2019 | | 2019 |
