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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Khalaf-Nazzal R, et al. Among authors: baker w. Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi: 10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24. Am J Hum Genet. 2022. PMID: 36283405 Free PMC article.
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S, Fasham J, Al-Hijawi F, Qutob N, Gunning A, Leslie JS, McGavin L, Ubeyratna N, Baker W, Zeid R, Turnpenny PD, Crosby AH, Baple EL, Khalaf-Nazzal R. Lin S, et al. Among authors: baker w. Eur J Hum Genet. 2021 Oct;29(10):1570-1576. doi: 10.1038/s41431-021-00887-w. Epub 2021 May 20. Eur J Hum Genet. 2021. PMID: 34012134 Free PMC article.
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, Maree M, Gunning A, Zayed DZ, Voutsina N, McGavin L, Sawafta R, Owens M, Baker W, Turnpenny P, Al-Hijawi F, Baple EL, Crosby AH, Rawlins LE. Khalaf-Nazzal R, et al. Among authors: baker w. Am J Med Genet A. 2024 Mar 4:e63579. doi: 10.1002/ajmg.a.63579. Online ahead of print. Am J Med Genet A. 2024. PMID: 38436550
Author Correction: A small and vigorous black hole in the early Universe.
Maiolino R, Scholtz J, Witstok J, Carniani S, D'Eugenio F, de Graaff A, Übler H, Tacchella S, Curtis-Lake E, Arribas S, Bunker A, Charlot S, Chevallard J, Curti M, Looser TJ, Maseda MV, Rawle TD, Rodríguez Del Pino B, Willott CJ, Egami E, Eisenstein DJ, Hainline KN, Robertson B, Williams CC, Willmer CNA, Baker WM, Boyett K, DeCoursey C, Fabian AC, Helton JM, Ji Z, Jones GC, Kumari N, Laporte N, Nelson EJ, Perna M, Sandles L, Shivaei I, Sun F. Maiolino R, et al. Among authors: baker wm. Nature. 2024 May 17. doi: 10.1038/s41586-024-07494-x. Online ahead of print. Nature. 2024. PMID: 38760465 No abstract available.
Phylogenomics and the rise of the angiosperms.
Zuntini AR, Carruthers T, Maurin O, Bailey PC, Leempoel K, Brewer GE, Epitawalage N, Françoso E, Gallego-Paramo B, McGinnie C, Negrão R, Roy SR, Simpson L, Toledo Romero E, Barber VMA, Botigué L, Clarkson JJ, Cowan RS, Dodsworth S, Johnson MG, Kim JT, Pokorny L, Wickett NJ, Antar GM, DeBolt L, Gutierrez K, Hendriks KP, Hoewener A, Hu AQ, Joyce EM, Kikuchi IABS, Larridon I, Larson DA, de Lírio EJ, Liu JX, Malakasi P, Przelomska NAS, Shah T, Viruel J, Allnutt TR, Ameka GK, Andrew RL, Appelhans MS, Arista M, Ariza MJ, Arroyo J, Arthan W, Bachelier JB, Bailey CD, Barnes HF, Barrett MD, Barrett RL, Bayer RJ, Bayly MJ, Biffin E, Biggs N, Birch JL, Bogarín D, Borosova R, Bowles AMC, Boyce PC, Bramley GLC, Briggs M, Broadhurst L, Brown GK, Bruhl JJ, Bruneau A, Buerki S, Burns E, Byrne M, Cable S, Calladine A, Callmander MW, Cano Á, Cantrill DJ, Cardinal-McTeague WM, Carlsen MM, Carruthers AJA, de Castro Mateo A, Chase MW, Chatrou LW, Cheek M, Chen S, Christenhusz MJM, Christin PA, Clements MA, Coffey SC, Conran JG, Cornejo X, Couvreur TLP, Cowie ID, Csiba L, Darbyshire I, Davidse G, Davies NMJ, Davis AP, van Dijk KJ, Downie SR, Duretto MF, Duvall MR, Edwards SL, Eggli U, Erkens RHJ, Escud… See abstract for full author list ➔ Zuntini AR, et al. Among authors: baker wj. Nature. 2024 Apr 24. doi: 10.1038/s41586-024-07324-0. Online ahead of print. Nature. 2024. PMID: 38658746
1,271 results