William Rowell

Geneticist & 1x programmer on a good day. BFX applications @PacBio (but opinions here my own). he/him
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William's Collections

My 2021 Highlights

10 Highlights

Articles and blogs

18 Highlights

Videos

1 Highlight

Speaking engagements

19 Highlights

Things I’ve built

2 Highlights

Awards

1 Highlight
What William's working on

What William's working on

2022
Apr 02, 2022
Apr 02, 2022
Mehinovic E, Gray T, Campbell M, Ekholm J, Wenger AM, Rowell WJ, Grudo A, Grimwood J, Korlach J, Gurnett C, Constantino JN, Turner TN. 2022. Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing. Am. J. Med. Genet. A. http://doi.org/10.1002/ajmg.a.62743
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Mar 16, 2022
Mar 16, 2022
Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon J-B, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. Genet in Med (2022). https://doi.org/10.1016/j.gim.2022.02.007
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Feb 07, 2022
Feb 07, 2022
Wagner J, Olson ND, Harris L, McDaniel J, Cheng H, Fungtammasan A, Hwang Y-C, Gupta R, Wenger AM, Rowell WJ, Khan ZM, Farek J, Zhu Y, Pisupati A, Mahmoud M, Xiao C, Yoo B, Sahraeian SME, Miller DE, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Narzisi G, Evani US, Clarke WE, Lee J, Mason CE, Lincoln SE, Miga KH, Ebbert MTW, Shumate A, Li H, Chin C-S, Zook JM, Sedlazeck FJ. Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol (2022). https://doi.org/10.1038/s41587-021-01158-1
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Jan 22, 2022
Jan 22, 2022
Namiki S, Ros IG, Morrow C, Rowell WJ, Card GM, Korff W, Dickinson MH. 2022. A population of descending neurons that regulates the flight motor of Drosophila. Curr Biology. https://doi.org/10.1016/j.cub.2022.01.008
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2021
Dec 16, 2021
Dec 16, 2021
Laine P, Rowell WJ, Paulin L, Kujawa S, Raterman D, et al. (2021) Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder. PLOS ONE 16(12): e0261170. https://doi.org/10.1371/journal.pone.0261170
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Staff Scientist, Bioinformatics, Pacific Biosciences
Dec 06, 2021
Dec 06, 2021
Mehinovic E, Gray T, Campbell M, Ekholm J, Wenger AM, Rowell WJ, Grudo A, Grimwood J, Korlach J, Gurnett C, Constantino JN, Turner TN. 2021. Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy. (preprint) medRxiv. https://doi.org/10.1101/2021.12.06.21264306
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Staff Scientist, Bioinformatics, Pacific Biosciences
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