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Page 1
Prion protein monoclonal antibody (PRN100) therapy for Creutzfeldt-Jakob disease: evaluation of a first-in-human treatment programme.
Mead S, Khalili-Shirazi A, Potter C, Mok T, Nihat A, Hyare H, Canning S, Schmidt C, Campbell T, Darwent L, Muirhead N, Ebsworth N, Hextall P, Wakeling M, Linehan J, Libri V, Williams B, Jaunmuktane Z, Brandner S, Rudge P, Collinge J. Mead S, et al. Among authors: wakeling m. Lancet Neurol. 2022 Apr;21(4):342-354. doi: 10.1016/S1474-4422(22)00082-5. Lancet Neurol. 2022. PMID: 35305340
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Szenker-Ravi E, Ott T, Yusof A, Chopra M, Khatoo M, Pak B, Xuan Goh W, Beckers A, Brady AF, Ewans LJ, Djaziri N, Almontashiri NAM, Alghamdi MA, Alharby E, Dasouki M, Romo L, Tan WH, Maddirevula S, Alkuraya FS, Giordano JL, Alkelai A, Wapner RJ, Stals K, Alfadhel M, Alswaid AF, Bogusch S, Schafer-Kosulya A, Vogel S, Vick P, Schweickert A, Wakeling M, Moreau de Bellaing A, Alshamsi AM, Sanlaville D, Mbarek H, Saad C, Ellard S, Eisenhaber F, Tripolszki K, Beetz C, Bauer P, Gossler A, Eisenhaber B, Blum M, Bouvagnet P, Bertoli-Avella A, Amiel J, Gordon CT, Reversade B. Szenker-Ravi E, et al. Among authors: wakeling m. Am J Hum Genet. 2024 Dec 27:S0002-9297(24)00448-8. doi: 10.1016/j.ajhg.2024.12.006. Online ahead of print. Am J Hum Genet. 2024. PMID: 39753129
A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.
Donis R, Patel KA, Wakeling MN, Johnson MB, Amoli MM, Yildiz M, Akçay T, Aspi I, Yong J, Yaghootkar H, Weedon MN, Hattersley AT, Flanagan SE, De Franco E. Donis R, et al. Among authors: wakeling mn. Diabet Med. 2024 Nov 7:e15471. doi: 10.1111/dme.15471. Online ahead of print. Diabet Med. 2024. PMID: 39509107
Congenital hyperinsulinism and novel KDM6A duplications -resolving pathogenicity with genome and epigenetic analyses.
Männistö JME, Hopkins JJ, Hewat TI, Nasser F, Burrage J, Dastamani A, Mirante A, Murphy N, Rzasa J, Kerkhof J, Relator R, Johnson MB, Laver TW, Weymouth L, Houghton JAL, Wakeling MN, Sadikovic B, Dempster EL, Flanagan SE. Männistö JME, et al. Among authors: wakeling mn. J Clin Endocrinol Metab. 2024 Jul 30:dgae524. doi: 10.1210/clinem/dgae524. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39078990
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
Johnson MB, Ogishi M, Domingo-Vila C, De Franco E, Wakeling MN, Imane Z, Resnick B, Williams E, Galão RP, Caswell R, Russ-Silsby J, Seeleuthner Y, Rinchai D, Fagniez I, Benson B, Dufort MJ, Speake C, Smithmyer ME, Hudson M, Dobbs R; EXE-T1D consortium; Quandt Z, Hattersley AT, Zhang P, Boisson-Dupuis S, Anderson MS, Casanova JL, Tree TI, Oram RA. Johnson MB, et al. Among authors: wakeling mn. J Exp Med. 2024 Jun 3;221(6):e20231704. doi: 10.1084/jem.20231704. Epub 2024 Apr 18. J Exp Med. 2024. PMID: 38634869 Free PMC article.
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, Kershaw M, Honey EM, Murphy N, Giri D, Nath S, Tangari Saredo A, Banerjee I, Hussain K, Owens NDL, Flanagan SE. Laver TW, et al. Among authors: wakeling mn. Eur J Hum Genet. 2024 Jul;32(7):813-818. doi: 10.1038/s41431-024-01593-z. Epub 2024 Apr 11. Eur J Hum Genet. 2024. PMID: 38605124 Free PMC article.
49 results