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527 related items for PubMed ID: 29961569

  • 1. 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, Undiagnosed Diseases Network, 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 05; 103(1):154-162. PubMed ID: 29961569
    [Abstract] [Full Text] [Related]

  • 2. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
    Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny AF, Casas-Alba D, Grinberg D, Balcells S, Serrano M, Rabionet R, Martin MA, Urreizti R.
    Pediatr Neurol; 2024 Jun 05; 155():8-17. PubMed ID: 38569228
    [Abstract] [Full Text] [Related]

  • 3. Novel mosaic TRAF7 likely pathogenic variant in an African American family.
    Colleran JA, Daykin EC, Hernandez C, Ray J, Morand M.
    Am J Med Genet A; 2023 Jul 05; 191(7):1990-1993. PubMed ID: 37067385
    [Abstract] [Full Text] [Related]

  • 4. 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, Deciphering Developmental Disorders StudyDeciphering Developmental Disorders Study, Wellcome Sanger Institute, Cambridge CB10 1SA, UK., van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.
    Am J Hum Genet; 2019 Apr 04; 104(4):709-720. PubMed ID: 30905399
    [Abstract] [Full Text] [Related]

  • 5. 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 04; 176(9):1845-1851. PubMed ID: 30055086
    [Abstract] [Full Text] [Related]

  • 6. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
    Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K.
    Genet Med; 2020 Feb 04; 22(2):389-397. PubMed ID: 31388190
    [Abstract] [Full Text] [Related]

  • 7. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
    Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK.
    Hum Genet; 2016 Dec 04; 135(12):1399-1409. PubMed ID: 27681385
    [Abstract] [Full Text] [Related]

  • 8. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
    Hay E, Henderson RH, Mansour S, Deshpande C, Jones R, Nutan S, Mankad K, Young RM, Moosajee M, Research Consortium GE, Arno G.
    Clin Genet; 2020 Aug 04; 98(2):191-197. PubMed ID: 32530092
    [Abstract] [Full Text] [Related]

  • 9. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
    Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT.
    Genet Med; 2020 Jul 04; 22(7):1215-1226. PubMed ID: 32376980
    [Abstract] [Full Text] [Related]

  • 10. 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 04; 93(5):1000-1007. PubMed ID: 29393965
    [Abstract] [Full Text] [Related]

  • 11. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
    Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y.
    PLoS Genet; 2018 Dec 04; 14(12):e1007822. PubMed ID: 30532227
    [Abstract] [Full Text] [Related]

  • 12. Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.
    Accogli A, Scala M, Pavanello M, Severino M, Gandolfo C, De Marco P, Musacchia F, Torella A, Pinelli M, Nigro V, Capra V.
    Birth Defects Res; 2020 Aug 04; 112(14):1085-1092. PubMed ID: 32459067
    [Abstract] [Full Text] [Related]

  • 13. The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant.
    Kim KH, Han JY, Park J, Cho JS.
    Int J Mol Sci; 2024 Mar 26; 25(7):. PubMed ID: 38612512
    [Abstract] [Full Text] [Related]

  • 14. De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
    Reis LM, Sorokina EA, Thompson S, Muheisen S, Velinov M, Zamora C, Aylsworth AS, Semina EV.
    Am J Hum Genet; 2019 Aug 01; 105(2):425-433. PubMed ID: 31327510
    [Abstract] [Full Text] [Related]

  • 15. De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.
    Yoon JG, Lim SK, Seo H, Lee S, Cho J, Kim SY, Koh HY, Poduri AH, Ramakumaran V, Vasudevan P, de Groot MJ, Ko JM, Han D, Chae JH, Lee CH.
    Am J Hum Genet; 2024 Aug 08; 111(8):1588-1604. PubMed ID: 39047730
    [Abstract] [Full Text] [Related]

  • 16. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
    Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR.
    Genome Med; 2017 Aug 14; 9(1):73. PubMed ID: 28807008
    [Abstract] [Full Text] [Related]

  • 17. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
    Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE, Baylor College of Medicine Center for Precision Medicine Models, Wangler MF, Yamamoto S, Chung WK, Bellen HJ.
    Am J Hum Genet; 2024 Apr 04; 111(4):742-760. PubMed ID: 38479391
    [Abstract] [Full Text] [Related]

  • 18. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
    Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK.
    Am J Med Genet A; 2020 May 04; 182(5):962-973. PubMed ID: 32031333
    [Abstract] [Full Text] [Related]

  • 19. A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
    Imagawa E, Konuma T, Cork EE, Diaz GA, Oishi K.
    Clin Genet; 2020 Dec 04; 98(6):606-612. PubMed ID: 32812661
    [Abstract] [Full Text] [Related]

  • 20. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
    Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M.
    J Med Genet; 2018 Jan 04; 55(1):28-38. PubMed ID: 29021403
    [Abstract] [Full Text] [Related]

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