Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 65

1.

Pathogenicity and selective constraint on variation near splice sites.

Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, McCann E, Kinning E, Flinter F, Temple IK, Clayton-Smith J, McEntagart M, Lynch SA, Joss S, Douzgou S, Dabir T, Clowes V, McConnell VPM, Lam W, Wright CF, FitzPatrick DR, Firth HV, Barrett JC, Hurles ME; Deciphering Developmental Disorders Study.

Genome Res. 2018 Dec 26. pii: gr.238444.118. doi: 10.1101/gr.238444.118. [Epub ahead of print]

2.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
3.

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.

Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S, Kelemen M, McAloney K, McRae J, Radford EJ, Yu S, Gecz J, Martin NG, Wright CF, Fitzpatrick DR, Firth HV, Hurles ME, Barrett JC.

Nature. 2018 Oct;562(7726):268-271. doi: 10.1038/s41586-018-0566-4. Epub 2018 Sep 26.

PMID:
30258228
4.

Registered access: authorizing data access.

Dyke SOM, Linden M, Lappalainen I, De Argila JR, Carey K, Lloyd D, Spalding JD, Cabili MN, Kerry G, Foreman J, Cutts T, Shabani M, Rodriguez LL, Haeussler M, Walsh B, Jiang X, Wang S, Perrett D, Boughtwood T, Matern A, Brookes AJ, Cupak M, Fiume M, Pandya R, Tulchinsky I, Scollen S, Törnroos J, Das S, Evans AC, Malin BA, Beck S, Brenner SE, Nyrönen T, Blomberg N, Firth HV, Hurles M, Philippakis AA, Rätsch G, Brudno M, Boycott KM, Rehm HL, Baudis M, Sherry ST, Kato K, Knoppers BM, Baker D, Flicek P.

Eur J Hum Genet. 2018 Dec;26(12):1721-1731. doi: 10.1038/s41431-018-0219-y. Epub 2018 Aug 2.

5.

De novo mutations in regulatory elements in neurodevelopmental disorders.

Short PJ, McRae JF, Gallone G, Sifrim A, Won H, Geschwind DH, Wright CF, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME.

Nature. 2018 Mar 29;555(7698):611-616. doi: 10.1038/nature25983. Epub 2018 Mar 21.

6.

Paediatric genomics: diagnosing rare disease in children.

Wright CF, FitzPatrick DR, Firth HV.

Nat Rev Genet. 2018 May;19(5):325. doi: 10.1038/nrg.2018.12. Epub 2018 Feb 19.

7.

Paediatric genomics: diagnosing rare disease in children.

Wright CF, FitzPatrick DR, Firth HV.

Nat Rev Genet. 2018 May;19(5):253-268. doi: 10.1038/nrg.2017.116. Epub 2018 Feb 5. Review. Erratum in: Nat Rev Genet. 2018 Feb 19;:.

PMID:
29398702
8.

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

Wright CF, McRae JF, Clayton S, Gallone G, Aitken S, FitzGerald TW, Jones P, Prigmore E, Rajan D, Lord J, Sifrim A, Kelsell R, Parker MJ, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD Study.

Genet Med. 2018 Oct;20(10):1216-1223. doi: 10.1038/gim.2017.246. Epub 2018 Jan 11.

9.

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;55(1):28-38. doi: 10.1136/jmedgenet-2017-104620. Epub 2017 Oct 11.

10.

"Matching" consent to purpose: The example of the Matchmaker Exchange.

Dyke SOM, Knoppers BM, Hamosh A, Firth HV, Hurles M, Brudno M, Boycott KM, Philippakis AA, Rehm HL.

Hum Mutat. 2017 Oct;38(10):1281-1285. doi: 10.1002/humu.23278. Epub 2017 Jul 12.

11.

Returning genome sequences to research participants: Policy and practice.

Wright CF, Middleton A, Barrett JC, Firth HV, FitzPatrick DR, Hurles ME, Parker M.

Wellcome Open Res. 2017 Feb 24;2:15. doi: 10.12688/wellcomeopenres.10942.1.

12.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, Kvarnung M, Mehta S, McKee S, Whiteford M, Stewart F, Connell F, Clayton-Smith J, Mansour S, Mohammed S, Fryer A, Morton J; UK10K Consortium, Grozeva D, Asam T, Moore D, Sifrim A, McRae J, Hurles ME, Firth HV, Raymond FL, Kini U, Nellåker C, Ddd Study, FitzPatrick DR.

Genet Med. 2017 Aug;19(8):900-908. doi: 10.1038/gim.2016.211. Epub 2017 Feb 2.

13.

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S.

J Med Genet. 2017 Aug;54(8):537-543. doi: 10.1136/jmedgenet-2016-104360. Epub 2017 Jan 18. Review.

14.

The Human Phenotype Ontology in 2017.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.

Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Review.

15.

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM.

Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. Epub 2016 Mar 22.

PMID:
27005418
16.

Baraitser-Winter cerebrofrontofacial syndrome.

Yates TM, Turner CL, Firth HV, Berg J, Pilz DT.

Clin Genet. 2017 Jul;92(1):3-9. doi: 10.1111/cge.12864. Epub 2016 Nov 30. Review.

PMID:
27625340
17.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T; INTERVAL Study, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J; UK10K Consortium, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD; Deciphering Developmental Disorders Study, Hurles ME.

Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1.

18.

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.

Laskowski RA, Tyagi N, Johnson D, Joss S, Kinning E, McWilliam C, Splitt M, Thornton JM, Firth HV; DDD Study, Wright CF.

Hum Mol Genet. 2016 Mar 1;25(5):927-35. doi: 10.1093/hmg/ddv625. Epub 2016 Jan 5.

19.

Principle of proportionality in genomic data sharing.

Wright CF, Hurles ME, Firth HV.

Nat Rev Genet. 2016 Jan;17(1):1-2. doi: 10.1038/nrg.2015.5. Epub 2015 Nov 23.

PMID:
26593419
20.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME; DDD study.

Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5.

21.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study, Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB.

Eur J Hum Genet. 2016 May;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26.

22.

The Matchmaker Exchange: a platform for rare disease gene discovery.

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL.

Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.

23.

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.

Chatzimichali EA, Brent S, Hutton B, Perrett D, Wright CF, Bevan AP, Hurles ME, Firth HV, Swaminathan GJ.

Hum Mutat. 2015 Oct;36(10):941-9. doi: 10.1002/humu.22842. Epub 2015 Aug 20.

24.

Potential research participants support the return of raw sequence data.

Middleton A, Wright CF, Morley KI, Bragin E, Firth HV, Hurles ME, Parker M; DDD study.

J Med Genet. 2015 Aug;52(8):571-4. doi: 10.1136/jmedgenet-2015-103119. Epub 2015 May 20.

25.

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.

Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M; DDD study.

Eur J Hum Genet. 2016 Jan;24(1):21-9. doi: 10.1038/ejhg.2015.58. Epub 2015 Apr 29.

26.

No expectation to share incidental findings in genomic research.

Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M; Deciphering Developmental Disorders Study.

Lancet. 2015 Apr 4;385(9975):1289-90. doi: 10.1016/S0140-6736(14)62119-X. Epub 2014 Dec 17. No abstract available.

PMID:
25529584
27.

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study.

Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17.

28.

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Ansari M, Rainger JK, Murray JE, Hanson I, Firth HV, Mehendale F, Amiel J, Gordon CT, Percesepe A, Mazzanti L, Fryer A, Ferrari P, Devriendt K, Temple IK, FitzPatrick DR.

Eur J Med Genet. 2014 Oct;57(10):587-95. doi: 10.1016/j.ejmg.2014.08.007. Epub 2014 Sep 3.

PMID:
25195018
29.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR.

J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.

30.

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

Grozeva D, Carss K, Spasic-Boskovic O, Parker MJ, Archer H, Firth HV, Park SM, Canham N, Holder SE, Wilson M, Hackett A, Field M, Floyd JA; UK10K Consortium, Hurles M, Raymond FL.

Am J Hum Genet. 2014 Apr 3;94(4):618-24. doi: 10.1016/j.ajhg.2014.03.006. Epub 2014 Mar 27.

31.

Policy challenges of clinical genome sequencing.

Wright CF, Middleton A, Burton H, Cunningham F, Humphries SE, Hurst J, Birney E, Firth HV.

BMJ. 2013 Nov 22;347:f6845. doi: 10.1136/bmj.f6845. No abstract available.

PMID:
24270507
32.

22q11.2 Duplication.

Firth HV.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Feb 17 [updated 2013 Nov 21].

33.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN.

Nucleic Acids Res. 2014 Jan;42(Database issue):D966-74. doi: 10.1093/nar/gkt1026. Epub 2013 Nov 11.

34.

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.

Bragin E, Chatzimichali EA, Wright CF, Hurles ME, Firth HV, Bevan AP, Swaminathan GJ.

Nucleic Acids Res. 2014 Jan;42(Database issue):D993-D1000. doi: 10.1093/nar/gkt937. Epub 2013 Oct 22.

35.

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy.

Durrington HJ, Firth HV, Patient C, Belham M, Jayne D, Burrows N, Morrell NW, Chilvers ER.

Am J Med Genet A. 2013 Jul;161A(7):1690-4. doi: 10.1002/ajmg.a.35935. Epub 2013 May 17.

PMID:
23687085
36.

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

Demeer B, Andrieux J, Receveur A, Morin G, Petit F, Julia S, Plessis G, Martin-Coignard D, Delobel B, Firth HV, Thuresson AC, Lanco Dosen S, Sjörs K, Le Caignec C, Devriendt K, Mathieu-Dramard M.

Eur J Med Genet. 2013 Jan;56(1):26-31. doi: 10.1016/j.ejmg.2012.09.005. Epub 2012 Oct 11.

PMID:
23063576
37.

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

Swaminathan GJ, Bragin E, Chatzimichali EA, Corpas M, Bevan AP, Wright CF, Carter NP, Hurles ME, Firth HV.

Hum Mol Genet. 2012 Oct 15;21(R1):R37-44. Epub 2012 Sep 8. Review.

38.

Isolated hypoglossal schwannoma in a 9-year-old child.

Santarius T, Dakoji S, Afshari FT, Raymond FL, Firth HV, Fernandes HM, Garnett MR.

J Neurosurg Pediatr. 2012 Aug;10(2):130-3. doi: 10.3171/2012.3.PEDS11555. Epub 2012 Jun 22.

PMID:
22725844
39.

Diagnostic interpretation of array data using public databases and internet sources.

de Leeuw N, Dijkhuizen T, Hehir-Kwa JY, Carter NP, Feuk L, Firth HV, Kuhn RM, Ledbetter DH, Martin CL, van Ravenswaaij-Arts CM, Scherer SW, Shams S, Van Vooren S, Sijmons R, Swertz M, Hastings R.

Hum Mutat. 2012 Jun;33(6):930-40. doi: 10.1002/humu.22049.

40.

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Burkitt-Wright EM, Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B.

Am J Med Genet A. 2012 May;158A(5):1102-10. doi: 10.1002/ajmg.a.35296. Epub 2012 Apr 11.

41.

Interpretation of genomic copy number variants using DECIPHER.

Corpas M, Bragin E, Clayton S, Bevan P, Firth HV.

Curr Protoc Hum Genet. 2012 Jan;Chapter 8:Unit 8.14. doi: 10.1002/0471142905.hg0814s72.

PMID:
22241657
42.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome.

Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE.

J Med Genet. 2012 Feb;49(2):110-8. doi: 10.1136/jmedgenet-2011-100499. Epub 2011 Dec 17.

43.

The Deciphering Developmental Disorders (DDD) study.

Firth HV, Wright CF; DDD Study.

Dev Med Child Neurol. 2011 Aug;53(8):702-3. doi: 10.1111/j.1469-8749.2011.04032.x. Epub 2011 Jun 17. No abstract available.

44.

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).

Povey S, Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, den Dunnen JT, Firth HV, Greenblatt MS, Barash CI, Parker M, Patrinos GP, Savige J, Sobrido MJ, Winship I, Cotton RG; Ethics Committee of the Human Genome Organization (HUGO).

Hum Mutat. 2010 Nov;31(11):1179-84. doi: 10.1002/humu.21339.

45.

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Goriely A, Lord H, Lim J, Johnson D, Lester T, Firth HV, Wilkie AO.

Am J Med Genet A. 2010 Aug;152A(8):2067-73. doi: 10.1002/ajmg.a.33513.

46.

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV; Cornelia Kraus, Ekici AB, Reis A, Rauch A.

Hum Mutat. 2010 Jun;31(6):722-33. doi: 10.1002/humu.21253.

PMID:
20513142
47.

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A.

Eur J Hum Genet. 2009 Dec;17(12):1592-9. doi: 10.1038/ejhg.2009.90. Epub 2009 May 27.

48.

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP.

Am J Hum Genet. 2009 Apr;84(4):524-33. doi: 10.1016/j.ajhg.2009.03.010. Epub 2009 Apr 2.

49.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L.

J Med Genet. 2009 Sep;46(9):635-40. doi: 10.1136/jmg.2008.062034. Epub 2009 Jan 6.

PMID:
19126570
50.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.

N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10.

Supplemental Content

Loading ...
Support Center