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Page 1
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study; Wang K, Timmers HTM, Lyon GJ. Cheng H, et al. Among authors: baynam g. Hum Mutat. 2019 Oct 23:10.1002/humu.23936. doi: 10.1002/humu.23936. Online ahead of print. Hum Mutat. 2019. PMID: 31646703 Free PMC article.
Extending the phenotypes associated with DICER1 mutations.
Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR. Foulkes WD, et al. Among authors: baynam g. Hum Mutat. 2011 Dec;32(12):1381-4. doi: 10.1002/humu.21600. Epub 2011 Oct 11. Hum Mutat. 2011. PMID: 21882293
The facial evolution: looking backward and moving forward.
Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Gillett D, Goldblatt J. Baynam G, et al. Hum Mutat. 2013 Jan;34(1):14-22. doi: 10.1002/humu.22219. Epub 2012 Nov 2. Hum Mutat. 2013. PMID: 23033261 Review.
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B. Bögershausen N, et al. Among authors: baynam g. Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7. Hum Mutat. 2016. PMID: 27302555
Genotype and phenotype spectrum of NRAS germline variants.
Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, Baynam G, Buscarilli M, Dyack S, Gillis J, Yntema HG, Pantaleoni F, van Loon RL, MacKay S, Mina K, Schanze I, Tan TY, Walsh M, White SM, Niewisch MR, García-Miñaúr S, Plaza D, Ahmadian MR, Cavé H, Tartaglia M, Zenker M. Altmüller F, et al. Among authors: baynam g. Eur J Hum Genet. 2017 Jun;25(7):823-831. doi: 10.1038/ejhg.2017.65. Epub 2017 May 3. Eur J Hum Genet. 2017. PMID: 28594414 Free PMC article.
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W. Meester JAN, et al. Among authors: baynam g. Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4. Hum Mutat. 2018. PMID: 29924900 Free PMC article.
Silver Russel syndrome in an aboriginal patient from Australia.
Poulton C, Azmanov D, Atkinson V, Beilby J, Ewans L, Gration D, Dreyer L, Shetty V, Peake C, McCormack E, Palmer R, Lewis B, Dawkins H, Broley S, Baynam G. Poulton C, et al. Among authors: baynam g. Am J Med Genet A. 2018 Dec;176(12):2561-2563. doi: 10.1002/ajmg.a.40502. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152198
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ, Gardham A, Suri M, Malla R, Brady LI, Tarnopolsky M, Azmanov DN, Atkinson V, Black M, Baynam G, Dreyer L, Hayeems RZ, Marshall CR, Costain G, Wessels MW, Baptista J, Drummond J, Leffler M, Field M, Gecz J. Kumar R, et al. Among authors: baynam g. Front Mol Neurosci. 2020 Feb 11;13:12. doi: 10.3389/fnmol.2020.00012. eCollection 2020. Front Mol Neurosci. 2020. PMID: 32116545 Free PMC article.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Levy MA, et al. Among authors: baynam g. Hum Mutat. 2022 Nov;43(11):1609-1628. doi: 10.1002/humu.24446. Epub 2022 Aug 21. Hum Mutat. 2022. PMID: 35904121
179 results