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A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Borroto MC, Michaud C, Hudon C, Agrawal PB, Agre K, Applegate CD, Beggs AH, Bjornsson HT, Callewaert B, Chen MJ, Curry C, Devinsky O, Dudding-Byth T, Fagan K, Finnila CR, Gavrilova R, Genetti CA, Hiatt SM, Hildebrandt F, Wojcik MH, Kleefstra T, Kolvenbach CM, Korf BR, Kruszka P, Li H, Litwin J, Marcadier J, Platzer K, Blackburn PR, Reijnders MRF, Reutter H, Schanze I, Shieh JT, Stevens CA, Valivullah Z, van den Boogaard MJ, Klee EW, Campeau PM. Borroto MC, et al. Among authors: beggs ah. Genes (Basel). 2024 Aug 6;15(8):1033. doi: 10.3390/genes15081033. Genes (Basel). 2024. PMID: 39202393 Free PMC article.
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO; Undiagnosed Diseases Network; Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Borroto MC, et al. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. Pediatr Neurol. 2024. PMID: 39181022 Free article.
Determining the optimal route of faecal microbiota transplant in patients with ulcerative colitis: the STOP-Colitis pilot RCT.
Quraishi MN, Moakes CA, Yalchin M, Segal J, Ives NJ, Magill L, Manzoor SE, Gerasimidis K, Loi S, McMullan C, Mathers J, Quince C, Kaur M, Loman NJ, Sharma N, Hawkey P, McCune V, Nichols B, Svolos V, Kerbiriou C, McMurray C, Beggs A, Hansen R, Hart AL, Gaya DR, Iqbal TH. Quraishi MN, et al. Among authors: beggs a. Southampton (UK): National Institute for Health and Care Research; 2024 Aug. Southampton (UK): National Institute for Health and Care Research; 2024 Aug. PMID: 39250584 Free Books & Documents. Review.
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Huang Y, et al. Genet Med. 2024 Jul 19;26(11):101218. doi: 10.1016/j.gim.2024.101218. Online ahead of print. Genet Med. 2024. PMID: 39036895 Free article.
Identification and validation of a machine learning model of complete response to radiation in rectal cancer reveals immune infiltrate and TGFβ as key predictors.
Domingo E, Rathee S, Blake A, Samuel L, Murray G, Sebag-Montefiore D, Gollins S, West N, Begum R, Richman S, Quirke P, Redmond K, Chatzipli A, Barberis A, Hassanieh S, Mahmood U, Youdell M, McDermott U, Koelzer V, Leedham S, Tomlinson I, Dunne P; S:CORT consortium; Buffa FM, Maughan TS. Domingo E, et al. EBioMedicine. 2024 Aug;106:105228. doi: 10.1016/j.ebiom.2024.105228. Epub 2024 Jul 16. EBioMedicine. 2024. PMID: 39013324 Free article.
Novel Textbook Outcomes following emergency laparotomy: Delphi exercise.
Naumann DN, Bhangu A, Brooks A, Martin M, Cotton BA, Khan M, Midwinter MJ, Pearce L, Bowley DM, Holcomb JB, Griffiths EA; BEACON Collaborative. Naumann DN, et al. BJS Open. 2024 Jan 3;8(1):zrad145. doi: 10.1093/bjsopen/zrad145. BJS Open. 2024. PMID: 38949628 Free article.
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Möller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedláčková L, Laššuthová P, Libá Z, Vlčková M, William N, Klee EW, Gavrilova RH, Lévy J, Capri Y, Scavina M, Körner RW, Valuvullah Z, Weiß C, Möller GM, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Küsters B, Beggs AH, Genetti CA, Nicolai J, Dötsch J, Koy A, Bönnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans N, Jungbluth H, Dafsari HS. Möller B, et al. Among authors: beggs ah. Brain. 2024 Jun 8:awae183. doi: 10.1093/brain/awae183. Online ahead of print. Brain. 2024. PMID: 38848546
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Genet Med. 2024 Sep;26(9):101174. doi: 10.1016/j.gim.2024.101174. Epub 2024 Jun 3. Genet Med. 2024. PMID: 38847193
602 results