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KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Among authors: shashi v. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.
Sandal P, Jong CJ, Merrill RA, Kollman GJ, Paden AH, Bend EG, Sullivan J, Spillmann RC, Shashi V, Vulto-van Silfhout AT, Pfundt R, de Vries BBA, Li PP, Bicknell LS, Strack S. Sandal P, et al. Among authors: shashi v. Hum Mol Genet. 2024 Nov 20:ddae166. doi: 10.1093/hmg/ddae166. Online ahead of print. Hum Mol Genet. 2024. PMID: 39565297
Shashi-Pena Syndrome.
Porter JM, Pena LDM, Spillmann RC, Johnson A, Shashi V. Porter JM, et al. Among authors: shashi v. 2024 Nov 7. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Nov 7. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 39527683 Free Books & Documents. Review.
Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders.
Calianese DC, Noji T, Sullivan JA, Schoch K, Shashi V, McNiven V, Ramos LLP, Jordanova A, Kárteszi J, Ishikita H, Nagata S. Calianese DC, et al. Among authors: shashi v. Proc Natl Acad Sci U S A. 2024 Oct 29;121(44):e2415755121. doi: 10.1073/pnas.2415755121. Epub 2024 Oct 21. Proc Natl Acad Sci U S A. 2024. PMID: 39432785 Free PMC article.
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Ochoa S, Hsu AP, Oler AJ, Kumar D, Chauss D, van Hamburg JP, van Laar GG, Oikonomou V, Ganesan S, Ferré EMN, Schmitt MM, DiMaggio T, Barber P, Constantine GM, Rosen LB, Auwaerter PG, Gandhi B, Miller JL, Eisenberg R, Rubinstein A, Schussler E, Balliu E, Shashi V, Neth O, Olbrich P, Le KM, Mamia N, Laakso S, Nevalainen PI, Grönholm J, Seppänen MRJ, Boon L, Uzel G, Franco LM, Heller T, Winer KK, Ghosh R, Seifert BA, Walkiewicz M, Notarangelo LD, Zhou Q, Askentijevich I, Gahl W, Dalgard CL, Perera L, Afzali B, Tas SW, Holland SM, Lionakis MS. Ochoa S, et al. Among authors: shashi v. Sci Transl Med. 2024 Sep 18;16(765):eadk0845. doi: 10.1126/scitranslmed.adk0845. Epub 2024 Sep 18. Sci Transl Med. 2024. PMID: 39292801
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, Itani O, Böhme AL, Tibbe D, Hönck HH, Hassani Nia F; Undiagnosed Diseases Network; Zech M, Brunet T, Faivre L, Sorlin A, Vitobello A, Smol T, Colson C, Baranano K, Schatz K, Bayat A, Schoch K, Spillmann R, Davis EE, Conboy E, Vetrini F, Platzer K, Neuser S, Gburek-Augustat J, Grace AN, Mitchell B, Stegmann A, Sinnema M, Meeks N, Saunders C, Cadieux-Dion M, Hoyer J, Van-Gils J, de Sainte-Agathe JM, Thompson ML, Bebin EM, Weisz-Hubshman M, Tabet AC, Verloes A, Levy J, Latypova X, Harder S, Silverman GA, Pak SC, Schedl T, Freson K, Mumford A, Turro E, Schlein C, Shashi V, Kreienkamp HJ. Willim J, et al. Among authors: shashi v. Nat Commun. 2024 Sep 10;15(1):7909. doi: 10.1038/s41467-024-52095-x. Nat Commun. 2024. PMID: 39256359 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.
244 results