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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition.
Ezell KM, Furuta Y, Oglesbee D, Pivnick EK, Rinker D, Sheehan JH, Tinker RJ, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Koziura M, Phillips JA 3rd; Undiagnosed Diseases Network. Ezell KM, et al. Among authors: cogan jd. Mol Genet Metab Rep. 2024 Oct 5;41:101145. doi: 10.1016/j.ymgmr.2024.101145. eCollection 2024 Dec. Mol Genet Metab Rep. 2024. PMID: 39435313 Free PMC article.
Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models.
Jay KL, Gogate N, Ezell K, Andrews JC, Jangam SV, Hall PI, Pan H, Pham K, German R, Gomez V, Jellinek-Russo E, Storch E; Brain Gene Registry Consortium, Undiagnosed Diseases Network; Yamamoto S, Kanca O, Bellen HJ, Dierick H, Cogan JD, Phillips JA, Hamid R, Cassini T, Rives L, Posey JE, Wangler MF. Jay KL, et al. Among authors: cogan jd. medRxiv [Preprint]. 2024 Sep 28:2024.09.27.24314092. doi: 10.1101/2024.09.27.24314092. medRxiv. 2024. PMID: 39399018 Free PMC article. Preprint.
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.
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 Nov;26(11):101218. doi: 10.1016/j.gim.2024.101218. Epub 2024 Jul 19. Genet Med. 2024. PMID: 39036895 Free article.
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
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
159 results