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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 |
IRF2BPL is associated with neurological phenotypes PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ... The American Journal of Human Genetics 103 (2), 245-260, 2018 | 92 | 2018 |
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative V Shashi, K Schoch, R Spillmann, H Cope, QKG Tan, N Walley, L Pena, ... Genetics in Medicine 21 (1), 161-172, 2019 | 77 | 2019 |
Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ... The American Journal of Human Genetics 102 (3), 494-504, 2018 | 72 | 2018 |
Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ... The American Journal of Human Genetics 104 (1), 164-178, 2019 | 71 | 2019 |
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 |
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 |
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases LDM Pena, YH Jiang, K Schoch, RC Spillmann, N Walley, N Stong, ... Genetics in medicine 20 (4), 464-469, 2018 | 47 | 2018 |
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders SM Hiatt, JMJ Lawlor, LH Handley, RC Ramaker, BB Rogers, ... Human Genetics and Genomics Advances 2 (2), 2021 | 44 | 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 |
IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells JH Newman, A Shaver, JH Sheehan, S Mallal, JH Stone, S Pillai, ... Molecular genetics & genomic medicine 7 (6), e686, 2019 | 10 | 2019 |
Convergent evolution and horizontal gene transfer in Arctic Ocean microalgae RG Dorrell, A Kuo, Z Füssy, EH Richardson, A Salamov, N Zarevski, ... Life science alliance 6 (3), 2023 | 9 | 2023 |
A generalist–specialist trade-off between switchgrass cytotypes impacts climate adaptation and geographic range JD Napier, PP Grabowski, JT Lovell, J Bonnette, S Mamidi, ... Proceedings of the National Academy of Sciences 119 (15), e2118879119, 2022 | 9 | 2022 |
A draft genome provides hypotheses on drought tolerance in a keystone plant species in Western North America threatened by climate change AE Melton, J Beck, SJ Galla, J Jenkins, L Handley, M Kim, J Grimwood, ... Ecology and Evolution 11 (21), 15417-15429, 2021 | 9 | 2021 |
Within-Arctic horizontal gene transfer as a driver of convergent evolution in distantly related microalgae RG Dorrell, A Kuo, Z Füssy, E Richardson, A Salamov, N Zarevski, ... bioRxiv, 2021.07. 31.454568, 2021 | 4 | 2021 |
Biosynthesis of Haloterpenoids in Red Algae via Microbial-like Type I Terpene Synthases TS Steele, I Burkhardt, ML Moore, T de Rond, HK Bone, K Barry, ... ACS Chemical Biology 19 (1), 185-192, 2023 | 1 | 2023 |
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders SM Hiatt, JMJ Lawlor, LH Handley, DR Latner, ZT Bonnstetter, CR Finnila, ... medRxiv, 2024.03. 22.24304633, 2024 | | 2024 |
eP141: Expansion of long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders and multiple congenital anomalies S Hiatt, J Lawlor, L Handley, Z Bonnstetter, J Jenkins, J Lovell, J Holt, ... Genetics in Medicine 24 (3), S87, 2022 | | 2022 |