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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR. Ehmke N, et al. Among authors: babcock h. Bone. 2020 Apr;133:115219. doi: 10.1016/j.bone.2019.115219. Epub 2020 Jan 7. Bone. 2020. PMID: 31923704 Free PMC article.
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Le TL, Galmiche L, Levy J, Suwannarat P, Hellebrekers DM, Morarach K, Boismoreau F, Theunissen TE, Lefebvre M, Pelet A, Martinovic J, Gelot A, Guimiot F, Calleroz A, Gitiaux C, Hully M, Goulet O, Chardot C, Drunat S, Capri Y, Bole-Feysot C, Nitschké P, Whalen S, Mouthon L, Babcock HE, Hofstra R, de Coo IF, Tabet AC, Molina TJ, Keren B, Brooks A, Smeets HJ, Marklund U, Gordon CT, Lyonnet S, Amiel J, Bondurand N. Le TL, et al. J Clin Invest. 2021 Mar 15;131(6):e145837. doi: 10.1172/JCI145837. J Clin Invest. 2021. PMID: 33497358 Free PMC article.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium; Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. Klöckner C, et al. Among authors: babcock he. Genet Med. 2021 Apr;23(4):653-660. doi: 10.1038/s41436-020-01020-w. Epub 2020 Dec 10. Genet Med. 2021. PMID: 33299146 Free article.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium; Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. Klöckner C, et al. Among authors: babcock he. Genet Med. 2021 Apr;23(4):796. doi: 10.1038/s41436-020-01090-w. Genet Med. 2021. PMID: 33686260 Free article. No abstract available.
X-Linked Candidate Genes for a Ciliopathy-Like Disorder.
Pavey AR, Vilboux T, Babcock HE, Ahronovich M, Solomon BD. Pavey AR, et al. Mol Syndromol. 2016 Apr;7(1):37-42. doi: 10.1159/000444666. Epub 2016 Mar 16. Mol Syndromol. 2016. PMID: 27194972 Free PMC article.
Osteoglophonic Dysplasia.
Othman AA, Babcock HE, Ferreira CR. Othman AA, et al. Among authors: babcock he. 2024 Apr 18. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Apr 18. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 38648328 Free Books & Documents. Review.
Leveraging Bluetooth low-energy technology to improve contact tracing among healthcare personnel in hospital setting during the coronavirus disease 2019 (COVID-19) pandemic.
Vazquez Guillamet MC, Rjob A, Zhang J, Dai R, Wang R, Damulira C, Hamauon R, Candell J, Kwon JH, Babcock H, Bailey TC, Lu C, Fraser V. Vazquez Guillamet MC, et al. Among authors: babcock h. Infect Control Hosp Epidemiol. 2024 Apr;45(4):546-548. doi: 10.1017/ice.2023.227. Epub 2023 Nov 20. Infect Control Hosp Epidemiol. 2024. PMID: 37982262
Introduction to A Compendium of Strategies to Prevent Healthcare-Associated Infections In Acute-Care Hospitals: 2022 Updates.
Yokoe DS, Advani SD, Anderson DJ, Babcock HM, Bell M, Berenholtz SM, Bryant KA, Buetti N, Calderwood MS, Calfee DP, Deloney VM, Dubberke ER, Ellingson KD, Fishman NO, Gerding DN, Glowicz J, Hayden MK, Kaye KS, Kociolek LK, Landon E, Larson EL, Malani AN, Marschall J, Meddings J, Mermel LA, Patel PK, Perl TM, Popovich KJ, Schaffzin JK, Septimus E, Trivedi KK, Weinstein RA, Maragakis LL. Yokoe DS, et al. Among authors: babcock hm. Infect Control Hosp Epidemiol. 2023 Oct;44(10):1533-1539. doi: 10.1017/ice.2023.158. Epub 2023 Oct 19. Infect Control Hosp Epidemiol. 2023. PMID: 37855077 Free PMC article.
186 results