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| 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 | 191 | 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 | 81 | 2019 |
| Brain gene co-expression networks link complement signaling with convergent synaptic pathology in schizophrenia M Kim, JR Haney, P Zhang, LM Hernandez, L Wang, L Perez-Cano, ... Nature neuroscience 24 (6), 799-809, 2021 | 74 | 2021 |
| 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 | 58 | 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 | 58 | 2020 |
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| Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey H Cope, H Barseghyan, S Bhattacharya, Y Fu, N Hoppman, C Marcou, ... Molecular genetics & genomic medicine 9 (7), e1665, 2021 | 22 | 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 | 22 | 2019 |
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| Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice CM Studwell, E Glanton, Undiagnosed Diseases Network, JS Sinsheimer, ... Journal of genetic counseling 30 (2), 439-447, 2021 | 7 | 2021 |
| Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome Y Zhao, L Wang, A Eskin, X Kang, VM Fajardo, Z Mehta, S Pineles, ... Journal of Molecular Medicine 99 (11), 1623-1638, 2021 | 5 | 2021 |
| Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples A McConkie‐Rosell, K Schoch, J Sullivan, RC Spillmann, H Cope, ... Journal of genetic counseling 31 (1), 59-70, 2022 | 4 | 2022 |
| De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features JC Andrews, JW Mok, O Kanca, S Jangam, C Tifft, EF Macnamara, ... Genetics in Medicine 25 (6), 100833, 2023 | 3 | 2023 |
| Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation JN Kohler, E Glanton, BM Boyd, CH Sillari, S Marwaha, ... Journal of genetic counseling 31 (2), 326-337, 2022 | 3 | 2022 |
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