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2023 | 3 |
2024 | 3 |
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Page 1
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
HGG Adv. 2023 Jun 15;4(3):100213. doi: 10.1016/j.xhgg.2023.100213. eCollection 2023 Jul 13.
HGG Adv. 2023.
PMID: 37457373
Free PMC article.
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC.
LaFlamme CW, et al.
medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741.
medRxiv. 2023.
PMID: 37873138
Free PMC article.
Preprint.
Item in Clipboard
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson Z, Storz SH, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE.
Gustafson JA, et al.
medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303792. doi: 10.1101/2024.03.05.24303792.
medRxiv. 2024.
PMID: 38496498
Free PMC article.
Preprint.
Item in Clipboard
CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease.
Mori T, Fujimaru T, Liu C, Patterson K, Yamamoto K, Suzuki T, Chiga M, Sekine A, Ubara Y, Miller DE, Zalusky MP, Mandai S, Ando F, Mori Y, Kikuchi H, Susa K; University of Washington Center for Rare Disease Research; Chong JX, Bamshad MJ, Tan YQ, Zhang F, Uchida S, Sohara E.
Mori T, et al.
medRxiv [Preprint]. 2024 Apr 5:2024.04.05.24304760. doi: 10.1101/2024.04.05.24304760.
medRxiv. 2024.
PMID: 38633811
Free PMC article.
Preprint.
Item in Clipboard
Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena H, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators; Milewicz DM, Prakash SK.
Mansoorshahi S, et al.
medRxiv [Preprint]. 2024 Feb 8:2024.02.07.24302406. doi: 10.1101/2024.02.07.24302406.
medRxiv. 2024.
PMID: 38370698
Free PMC article.
Preprint.
Item in Clipboard
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Amrani FA, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K; University of Washington Center for Mendelian Genomics, University of Washington Center for Rare Disease Research; Regnier M, Bamshad MJ.
Chong JX, et al.
medRxiv [Preprint]. 2023 Mar 9:2023.03.07.23286862. doi: 10.1101/2023.03.07.23286862.
medRxiv. 2023.
PMID: 36945405
Free PMC article.
Updated.
Preprint.
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