Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Authors: Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA, Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG.
Science
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Science
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Comprehensive benchmarking and guidelines of mosaic variant calling strategies.
TMEM161B modulates radial glial scaffolding in neocortical development.
Authors: Wang L, Heffner C, Vong KI, Barrows C, Ha YJ, Lee S, Lara-Gonzalez P, Jhamb I, Van Der Meer D, Loughnan R, Parker N, Sievert D, Mittal S, Issa MY, Andreassen OA, Dale A, Dobyns WB, Zaki MS, Murray SA, Gleeson JG.
Proc Natl Acad Sci U S A
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Proc Natl Acad Sci U S A
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Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development.
Authors: Kim JH, Hwang S, Son H, Kim D, Kim IB, Kim MH, Sim NS, Kim DS, Ha YJ, Lee J, Kang HC, Lee JH, Kim S.
PLoS Genet
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PLoS Genet
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Establishment of reference standards for multifaceted mosaic variant analysis.
Authors: Ha YJ, Oh MJ, Kim J, Kim J, Kang S, Minna JD, Kim HS, Kim S.
Sci Data
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Sci Data
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Cross-species oncogenic signatures of breast cancer in canine mammary tumors.
Authors: Kim TM, Yang IS, Seung BJ, Lee S, Kim D, Ha YJ, Seo MK, Kim KK, Kim HS, Cheong JH, Sur JH, Nam H, Kim S.
Nat Commun
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Nat Commun
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