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A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L, Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS, Deleuze JF, Masson C, Nelson I, Nectoux J, Si Y. Viollet LM, et al. Among authors: ha y. Eur J Med Genet. 2020 Dec;63(12):104063. doi: 10.1016/j.ejmg.2020.104063. Epub 2020 Sep 16. Eur J Med Genet. 2020. PMID: 32947049
Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing.
Sumner K, Swensen JJ, Procter M, Jama M, Wooderchak-Donahue W, Lewis T, Fong M, Hubley L, Schwarz M, Ha Y, Paul E, Brulotte B, Lyon E, Bayrak-Toydemir P, Mao R, Pont-Kingdon G, Best DH. Sumner K, et al. Among authors: ha y. J Mol Diagn. 2014 Sep;16(5):477-480. doi: 10.1016/j.jmoldx.2014.04.005. Epub 2014 Jul 9. J Mol Diagn. 2014. PMID: 25017792 Free article.
EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.
Best DH, Sumner KL, Smith BP, Damjanovich-Colmenares K, Nakayama I, Brown LM, Ha Y, Paul E, Morris A, Jama MA, Dodson MW, Bayrak-Toydemir P, Elliott CG. Best DH, et al. Among authors: ha y. Chest. 2017 Apr;151(4):821-828. doi: 10.1016/j.chest.2016.11.014. Epub 2016 Nov 22. Chest. 2017. PMID: 27884767
Potent neutralization by a receptor binding domain monoclonal antibody with broad specificity for SARS-CoV-2 JN.1 and other variants.
Piepenbrink MS, Khalil AM, Chang A, Mostafa A, Basu M, Sarkar S, Panjwani S, Ha YH, Ma Y, Ye C, Wang Q, Green TJ, Kizziah JL, Erdmann NB, Goepfert PA, Liu L, Ho DD, Martinez-Sobrido L, Walter MR, Kobie JJ. Piepenbrink MS, et al. Among authors: ha yh. bioRxiv [Preprint]. 2024 Apr 29:2024.04.27.591446. doi: 10.1101/2024.04.27.591446. bioRxiv. 2024. PMID: 38746414 Free PMC article. Preprint.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
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; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: ha yj. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
2,049 results