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3. TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility. Engwerda A; Leenders EKSM; Frentz B; Terhal PA; Löhner K; de Vries BBA; Dijkhuizen T; Vos YJ; Rinne T; van den Berg MP; Roofthooft MTR; Deelen P; van Ravenswaaij-Arts CMA; Kerstjens-Frederikse WS Eur J Hum Genet; 2021 Nov; 29(11):1669-1676. PubMed ID: 34456334 [TBL] [Abstract][Full Text] [Related]
4. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. van den Akker WMR; Brummelman I; Martis LM; Timmermans RN; Pfundt R; Kleefstra T; Willemsen MH; Gerkes EH; Herkert JC; van Essen AJ; Rump P; Vansenne F; Terhal PA; van Haelst MM; Cristian I; Turner CE; Cho MT; Begtrup A; Willaert R; Fassi E; van Gassen KLI; Stegmann APA; de Vries BBA; Schuurs-Hoeijmakers JHM Clin Genet; 2018 May; 93(5):1000-1007. PubMed ID: 29393965 [TBL] [Abstract][Full Text] [Related]
5. A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family. Chen J; Yuan H; Xie K; Wang X; Tan L; Zou Y; Yang Y; Pan L; Xiao J; Chen G; Liu Y BMC Cardiovasc Disord; 2020 Jan; 20(1):27. PubMed ID: 31959127 [TBL] [Abstract][Full Text] [Related]
6. There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome. Westphal DS; Mastantuono E; Seidel H; Riedhammer KM; Hahn A; Vill K; Wagner M Gene; 2022 Mar; 814():146167. PubMed ID: 34995729 [TBL] [Abstract][Full Text] [Related]
7. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086 [TBL] [Abstract][Full Text] [Related]
8. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569 [TBL] [Abstract][Full Text] [Related]
9. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. Ritelli M; Morlino S; Giacopuzzi E; Bernardini L; Torres B; Santoro G; Ravasio V; Chiarelli N; D'Angelantonio D; Novelli A; Grammatico P; Colombi M; Castori M Clin Genet; 2018 Jan; 93(1):126-133. PubMed ID: 28386937 [TBL] [Abstract][Full Text] [Related]
10. Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot. Weiss K; Applegate C; Wang T; Batista DA Am J Med Genet A; 2015 Nov; 167A(11):2702-6. PubMed ID: 26139517 [TBL] [Abstract][Full Text] [Related]
11. Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome. Ackerman JP; Smestad JA; Tester DJ; Qureshi MY; Crabb BA; Mendelsohn NJ; Ackerman MJ Congenit Heart Dis; 2016 Sep; 11(5):452-461. PubMed ID: 27452334 [TBL] [Abstract][Full Text] [Related]
12. Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum. Xu W; Graves A; Weisz-Hubshman M; Hegazy L; Magyar C; Liu Z; Nasiotis E; Samee MAH; Burris T; Lalani S; Zhang L Hum Mol Genet; 2023 Mar; 32(6):959-970. PubMed ID: 36229919 [TBL] [Abstract][Full Text] [Related]
13. Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome. Quental R; Gonçalves D; Rodrigues E; Serrano Gonçalves E; Oliveira J; Parente Freixo J; Leão M Am J Med Genet A; 2022 Apr; 188(4):1311-1316. PubMed ID: 34997803 [TBL] [Abstract][Full Text] [Related]
14. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report. Lippa NC; Barua S; Aggarwal V; Pereira E; Bain JM BMC Neurol; 2021 Sep; 21(1):358. PubMed ID: 34530748 [TBL] [Abstract][Full Text] [Related]
15. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; ; Campeau PM Am J Hum Genet; 2019 Jan; 104(1):164-178. PubMed ID: 30580808 [TBL] [Abstract][Full Text] [Related]
16. 6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy. Cheng A; Dinulos MBP; Neufeld-Kaiser W; Rosenfeld J; Kyriss M; Madan-Khetarpal S; Risheg H; Byers PH; Liu YJ Am J Med Genet A; 2017 Jul; 173(7):1848-1857. PubMed ID: 28464518 [TBL] [Abstract][Full Text] [Related]
17. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Rossi A; Blok LS; Neuser S; Klöckner C; Platzer K; Faivre LO; Weigand H; Dentici ML; Tartaglia M; Niceta M; Alfieri P; Srivastava S; Coulter D; Smith L; Vinorum K; Cappuccio G; Brunetti-Pierri N; Torun D; Arslan M; Lauridsen MF; Murch O; Irving R; Lynch SA; Mehta SG; Carmichael J; Zonneveld-Huijssoon E; de Vries B; Kleefstra T; Johannesen KM; Westphall IT; Hughes SS; Smithson S; Evans J; Dudding-Byth T; Simon M; van Binsbergen E; Herkert JC; Beunders G; Oppermann H; Bakal M; Møller RS; Rubboli G; Bayat A Clin Genet; 2023 Aug; 104(2):186-197. PubMed ID: 37165752 [TBL] [Abstract][Full Text] [Related]
18. Report of two children with global developmental delay in association with de novo TLK2 variant and literature review. Woods E; Spiller M; Balasubramanian M Am J Med Genet A; 2022 Mar; 188(3):931-940. PubMed ID: 34821460 [TBL] [Abstract][Full Text] [Related]
19. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. Calpena E; Hervieu A; Kaserer T; Swagemakers SMA; Goos JAC; Popoola O; Ortiz-Ruiz MJ; Barbaro-Dieber T; Bownass L; Brilstra EH; Brimble E; Foulds N; Grebe TA; Harder AVE; Lees MM; Monaghan KG; Newbury-Ecob RA; Ong KR; Osio D; Reynoso Santos FJ; Ruzhnikov MRZ; Telegrafi A; van Binsbergen E; van Dooren MF; ; van der Spek PJ; Blagg J; Twigg SRF; Mathijssen IMJ; Clarke PA; Wilkie AOM Am J Hum Genet; 2019 Apr; 104(4):709-720. PubMed ID: 30905399 [TBL] [Abstract][Full Text] [Related]
20. 6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype. Cheng A; Neufeld-Kaiser W; Byers PH; Liu YJ BMC Cardiovasc Disord; 2020 Mar; 20(1):137. PubMed ID: 32183715 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]