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Items: 29

1.

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
2.

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.

Quinlan-Jones E, Lord J, Williams D, Hamilton S, Marton T, Eberhardt RY, Rinck G, Prigmore E, Keelagher R, McMullan DJ, Maher ER, Hurles ME, Kilby MD.

Genet Med. 2018 Oct 8. doi: 10.1038/s41436-018-0298-8. [Epub ahead of print]

PMID:
30293990
3.

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.

4.

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.

5.

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H; Swedish Schizophrenia Study; INTERVAL Study; DDD Study; UK10 K Consortium, Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC.

Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14.

PMID:
26974950
6.

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.

7.

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.

8.

UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.

Wake NC, Ricketts CJ, Morris MR, Prigmore E, Gribble SM, Skytte AB, Brown M, Clarke N, Banks RE, Hodgson S, Turnell AS, Maher ER, Woodward ER.

Hum Mutat. 2013 Dec;34(12):1650-61. doi: 10.1002/humu.22433. Epub 2013 Oct 7.

9.

Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.

Gribble SM, Wiseman FK, Clayton S, Prigmore E, Langley E, Yang F, Maguire S, Fu B, Rajan D, Sheppard O, Scott C, Hauser H, Stephens PJ, Stebbings LA, Ng BL, Fitzgerald T, Quail MA, Banerjee R, Rothkamm K, Tybulewicz VL, Fisher EM, Carter NP.

PLoS One. 2013 Apr 15;8(4):e60482. doi: 10.1371/journal.pone.0060482. Print 2013.

10.

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.

Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi AC, Rosenberg C, Pearson PL, Melo DG, Gil-da-Silva-Lopes VL.

Eur J Med Genet. 2012 Nov;55(11):660-5. doi: 10.1016/j.ejmg.2012.06.015. Epub 2012 Jul 20.

11.

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.

Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MA, Prigmore E, Krepischi-Santos AC, Rosenberg C, Szuhai K, van Haeringen A, Carter NP, Gil-da-Silva-Lopes VL.

Am J Med Genet A. 2011 Nov;155A(11):2754-61. doi: 10.1002/ajmg.a.34168. Epub 2011 Sep 21.

12.

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.

Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L.

Nat Biotechnol. 2011 May 8;29(6):512-20. doi: 10.1038/nbt.1852.

13.

Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays.

Gribble SM, Ng BL, Prigmore E, Fitzgerald T, Carter NP.

Nat Protoc. 2009;4(12):1722-36. doi: 10.1038/nprot.2009.183. Epub 2009 Nov 5.

14.

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C.

Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Erratum in: Am J Hum Genet. 2009 Oct;85(4):537. multiple author names added.

15.

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, Barragan I, O'Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G.

Nat Genet. 2008 Nov;40(11):1285-7. doi: 10.1038/ng.241. Epub 2008 Oct 5.

16.

Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

Abd El-Aziz MM, Barragan I, O'Driscoll C, Borrego S, Abu-Safieh L, Pieras JI, El-Ashry MF, Prigmore E, Carter N, Antinolo G, Bhattacharya SS.

Ann Hum Genet. 2008 Jul;72(Pt 4):463-77. doi: 10.1111/j.1469-1809.2008.00455.x. Epub 2007 May 29. Erratum in: Ann Hum Genet. 2015 Jan;79(1):83. Ann Hum Genet. 2015 Jan;79(1):83.

17.

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA.

Am J Hum Genet. 2008 Apr;82(4):927-36. doi: 10.1016/j.ajhg.2008.02.012. Epub 2008 Mar 27.

18.

Characterization of a 3;6 translocation associated with renal cell carcinoma.

Foster RE, Abdulrahman M, Morris MR, Prigmore E, Gribble S, Ng B, Gentle D, Ready S, Weston PM, Wiesener MS, Kishida T, Yao M, Davison V, Barbero JL, Chu C, Carter NP, Latif F, Maher ER.

Genes Chromosomes Cancer. 2007 Apr;46(4):311-7.

19.

Ultra-high resolution array painting facilitates breakpoint sequencing.

Gribble SM, Kalaitzopoulos D, Burford DC, Prigmore E, Selzer RR, Ng BL, Matthews NS, Porter KM, Curley R, Lindsay SJ, Baptista J, Richmond TA, Carter NP.

J Med Genet. 2007 Jan;44(1):51-8. Epub 2006 Sep 13.

20.

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.

Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP.

Nat Genet. 2006 Sep;38(9):1032-7. Epub 2006 Aug 13.

PMID:
16906163
21.

The DNA sequence and biological annotation of human chromosome 1.

Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E.

Nature. 2006 May 18;441(7091):315-21. Erratum in: Nature. 2006 Oct 26;443(7114):1013. Banerjee, R [added]; Bryant, SP [added]; Burford, DC [added]; Burrill, WDH [added]; Clegg, SM [added]; Dhami, P [added]; Dovey, O [added]; Faulkner, LM [added]; Gribble, SM [added]; Langford, CF [added]; Pandian, RD [added]; Porter, KM [added]; Prigmore, E.

PMID:
16710414
22.

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.

Baptista J, Prigmore E, Gribble SM, Jacobs PA, Carter NP, Crolla JA.

Eur J Hum Genet. 2005 Nov;13(11):1205-12.

23.

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.

Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA, Thomas NS, Dennis NR, Jacobs PA, Crolla JA, Carter NP.

J Med Genet. 2005 Jan;42(1):8-16.

24.

Chromosome paints from single copies of chromosomes.

Gribble S, Ng BL, Prigmore E, Burford DC, Carter NP.

Chromosome Res. 2004;12(2):143-51.

PMID:
15053484
25.

Applications of combined DNA microarray and chromosome sorting technologies.

Gribble SM, Fiegler H, Burford DC, Prigmore E, Yang F, Carr P, Ng BL, Sun T, Kamberov ES, Makarov VL, Langmore JP, Carter NP.

Chromosome Res. 2004;12(1):35-43.

PMID:
14984100
26.

Requirement for PI 3-kinase gamma in macrophage migration to MCP-1 and CSF-1.

Jones GE, Prigmore E, Calvez R, Hogan C, Dunn GA, Hirsch E, Wymann MP, Ridley AJ.

Exp Cell Res. 2003 Oct 15;290(1):120-31.

PMID:
14516793
27.

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays.

Fiegler H, Gribble SM, Burford DC, Carr P, Prigmore E, Porter KM, Clegg S, Crolla JA, Dennis NR, Jacobs P, Carter NP.

J Med Genet. 2003 Sep;40(9):664-70.

28.

Cryptic Rac-binding and p21(Cdc42Hs/Rac)-activated kinase phosphorylation sites of NADPH oxidase component p67(phox).

Ahmed S, Prigmore E, Govind S, Veryard C, Kozma R, Wientjes FB, Segal AW, Lim L.

J Biol Chem. 1998 Jun 19;273(25):15693-701.

29.

A 68-kDa kinase and NADPH oxidase component p67phox are targets for Cdc42Hs and Rac1 in neutrophils.

Prigmore E, Ahmed S, Best A, Kozma R, Manser E, Segal AW, Lim L.

J Biol Chem. 1995 May 5;270(18):10717-22.

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