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Page 1
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Picketts D, et al. Among authors: collins s. Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1. Res Sq. 2023. PMID: 37841849 Free PMC article. Preprint.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB. Laugwitz L, et al. Among authors: collins sc. Brain. 2024 Feb 22:awae058. doi: 10.1093/brain/awae058. Online ahead of print. Brain. 2024. PMID: 38386308
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Montillot C, Skutunova E, Ayushma, Dubied M, Lahmar A, Nguyen S, Peerally B, Prin F, Duffourd Y, Thauvin-Robinet C, Duplomb L, Wang H, Ansar M, Faivre L, Navarro N, Minocha S, Collins SC, Yalcin B. Montillot C, et al. Among authors: collins sc. Neurobiol Dis. 2023 Sep;185:106259. doi: 10.1016/j.nbd.2023.106259. Epub 2023 Aug 12. Neurobiol Dis. 2023. PMID: 37573958 Free article.
Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.
Kretz PF, Wagner C, Mikhaleva A, Montillot C, Hugel S, Morella I, Kannan M, Fischer MC, Milhau M, Yalcin I, Brambilla R, Selloum M, Herault Y, Reymond A, Collins SC, Yalcin B. Kretz PF, et al. Among authors: collins sc. Genome Biol. 2023 Nov 15;24(1):261. doi: 10.1186/s13059-023-03092-8. Genome Biol. 2023. PMID: 37968726 Free PMC article.
The influence of an agricultural intervention on social capital and water insecurity coping strategies: Qualitative evidence from female smallholder farmers living with HIV in western Kenya.
Owuor PM, Miller JD, Kanugula SS, Yeam J, Collins S, Obure V, Arunga T, Otieno P, Olack B, Butler LM, Bukusi EA, Cohen CR, Weiser SD, Young SL. Owuor PM, et al. Among authors: collins s. Heliyon. 2024 May 29;10(11):e32058. doi: 10.1016/j.heliyon.2024.e32058. eCollection 2024 Jun 15. Heliyon. 2024. PMID: 38873679 Free PMC article.
The Soleymani and Collins Obstetric morbidity score (SaCOMS): A quantitative tool for measuring maternal morbidity from complex obstetric surgery such as placenta accreta spectrum (PAS).
Soleymani Majd H, Weeks E, Addley S, Cavallaro A, Collins SL. Soleymani Majd H, et al. Among authors: collins sl. Eur J Obstet Gynecol Reprod Biol. 2024 Jun 7;299:148-155. doi: 10.1016/j.ejogrb.2024.06.005. Online ahead of print. Eur J Obstet Gynecol Reprod Biol. 2024. PMID: 38870741 Free article.
MRI-Based Prediction of Clinical Improvement Following Ventricular Shunt Placement for Normal Pressure Hydrocephalus (NPH): Development and Evaluation of an Integrated Multi-Sequence Machine Learning Algorithm.
Leary OP, Zhong Z, Bi L, Jiao Z, Dai YW, Ma K, Sayied S, Kargilis D, Imami M, Zhao LM, Feng X, Riccardello G, Collins S, Svokos K, Moghekar A, Yang L, Bai H, Klinge PM, Boxerman JL. Leary OP, et al. Among authors: collins s. AJNR Am J Neuroradiol. 2024 Jun 12:ajnr.A8372. doi: 10.3174/ajnr.A8372. Online ahead of print. AJNR Am J Neuroradiol. 2024. PMID: 38866432
4,291 results