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Items: 1 to 50 of 169

1.

Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.

Hyder Z, Harkness EF, Woodward ER, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Evans DG.

Cancers (Basel). 2020 Feb 7;12(2). pii: E378. doi: 10.3390/cancers12020378.

2.

Genetic polymorphism in C3 is associated with progression in chronic kidney disease (CKD) patients with IgA nephropathy but not in other causes of CKD.

Ibrahim ST, Chinnadurai R, Ali I, Payne D, Rice GI, Newman WG, Algohary E, Adam AG, Kalra PA.

PLoS One. 2020 Jan 31;15(1):e0228101. doi: 10.1371/journal.pone.0228101. eCollection 2020.

3.

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.

Escala-Garcia M, Abraham J, Andrulis IL, Anton-Culver H, Arndt V, Ashworth A, Auer PL, Auvinen P, Beckmann MW, Beesley J, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Børresen-Dale AL, Brauch H, Brenner H, Brucker SY, Burwinkel B, Caldas C, Canzian F, Chang-Claude J, Chanock SJ, Chin SF, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Dennis J, Devilee P, Dunn JA, Dunning AM, Dwek M, Earl HM, Eccles DM, Eliassen AH, Ellberg C, Evans DG, Fasching PA, Figueroa J, Flyger H, Gago-Dominguez M, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, George A, Giles GG, Goldgar DE, González-Neira A, Grip M, Guénel P, Guo Q, Haiman CA, Håkansson N, Hamann U, Harrington PA, Hiller L, Hooning MJ, Hopper JL, Howell A, Huang CS, Huang G, Hunter DJ, Jakubowska A, John EM, Kaaks R, Kapoor PM, Keeman R, Kitahara CM, Koppert LB, Kraft P, Kristensen VN, Lambrechts D, Le Marchand L, Lejbkowicz F, Lindblom A, Lubiński J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, Meindl A, Milne RL, Mulligan AM, Neuhausen SL, Nevanlinna H, Newman WG, Olshan AF, Olson JE, Olsson H, Orr N, Peterlongo P, Petridis C, Prentice RL, Presneau N, Punie K, Ramachandran D, Rennert G, Romero A, Sachchithananthan M, Saloustros E, Sawyer EJ, Schmutzler RK, Schwentner L, Scott C, Simard J, Sohn C, Southey MC, Swerdlow AJ, Tamimi RM, Tapper WJ, Teixeira MR, Terry MB, Thorne H, Tollenaar RAEM, Tomlinson I, Troester MA, Truong T, Turnbull C, Vachon CM, van der Kolk LE, Wang Q, Winqvist R, Wolk A, Yang XR, Ziogas A, Pharoah PDP, Hall P, Wessels LFA, Chenevix-Trench G, Bader GD, Dörk T, Easton DF, Canisius S, Schmidt MK.

Nat Commun. 2020 Jan 16;11(1):312. doi: 10.1038/s41467-019-14100-6.

4.

A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.

Demain LAM, Gerkes EH, Smith RJH, Molina-Ramirez LP, O'Keefe RT, Newman WG.

J Hum Genet. 2020 Mar;65(3):305-311. doi: 10.1038/s10038-019-0706-1. Epub 2019 Dec 12.

PMID:
31827252
5.

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM; ABCTB Investigators, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA; GEMO Study Collaborators, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD 3rd, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN; KConFab, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surrallés J, Peterlongo P.

NPJ Breast Cancer. 2019 Nov 1;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019.

6.

Diagnosing and Preventing Hearing Loss in the Genomic Age.

McDermott JH, Molina-Ramírez LP, Bruce IA, Mahaveer A, Turner M, Miele G, Body R, Mahood R, Ulph F, MacLeod R, Harvey K, Booth N, Demain LAM, Wilson P, Black GC, Morton CC, Newman WG.

Trends Hear. 2019 Jan-Dec;23:2331216519878983. doi: 10.1177/2331216519878983.

7.

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

Houweling AC, Beaman GM, Postma AV, Gainous TB, Lichtenbelt KD, Brancati F, Lopes FM, van der Made I, Polstra AM, Robinson ML, Wright KD, Ellingford JM, Jackson AR, Overwater E, Genesio R, Romano S, Camerota L, D'Angelo E, Meijers-Heijboer EJ, Christoffels VM, McHugh KM, Black BL, Newman WG, Woolf AS, Creemers EE.

J Clin Invest. 2019 Dec 2;129(12):5374-5380. doi: 10.1172/JCI128545.

8.

Two truncating variants in FANCC and breast cancer risk.

Dörk T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Freeman LEB, Beckmann MW, Beeghly-Fadiel A, Behrens S, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Burwinkel B, Canzian F, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Christiansen H, Clarke CL, Couch FJ, Czene K, Daly MB, Dos-Santos-Silva I, Dwek M, Eccles DM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hartman M, Hauke J, Hein A, Hillemanns P, Hogervorst FBL, Hooning MJ, Hopper JL, Howell T, Huo D, Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jung A, Kaaks R, Kang D, Kapoor PM, Khusnutdinova E, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kwong A, Lambrechts D, Marchand LL, Li J, Lindström S, Linet M, Lo WY, Long J, Lophatananon A, Lubiński J, Manoochehri M, Manoukian S, Margolin S, Martinez E, Matsuo K, Mavroudis D, Meindl A, Menon U, Milne RL, Mohd Taib NA, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Offit K, Olopade OI, Olshan AF, Olson JE, Olsson H, Park SK, Park-Simon TW, Peto J, Plaseska-Karanfilska D, Pohl-Rescigno E, Presneau N, Rack B, Radice P, Rashid MU, Rennert G, Rennert HS, Romero A, Ruebner M, Saloustros E, Schmidt MK, Schmutzler RK, Schneider MO, Schoemaker MJ, Scott C, Shen CY, Shu XO, Simard J, Slager S, Smichkoska S, Southey MC, Spinelli JJ, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Toland AE, Tollenaar RAEM, Torres D, Torres-Mejía G, Troester MA, Truong T, Tsugane S, Untch M, Vachon CM, Ouweland AMWVD, Veen EMV, Vijai J, Wendt C, Wolk A, Yu JC, Zheng W, Ziogas A, Ziv E; ABCTB Investigators; NBCS Collaborators, Dunning AM, Pharoah PDP, Schindler D, Devilee P, Easton DF.

Sci Rep. 2019 Aug 29;9(1):12524. doi: 10.1038/s41598-019-48804-y.

9.

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.

Beaman GM, Galatà G, Teik KW, Urquhart JE, Aishah A, O'Sullivan J, Bhaskar SS, Wood KA, Thomas HB, O'Keefe RT, Woolf AS, Stuart HM, Newman WG.

Clin Genet. 2019 Dec;96(6):515-520. doi: 10.1111/cge.13631. Epub 2019 Sep 11.

10.

Disease modeling of core pre-mRNA splicing factor haploinsufficiency.

Wood KA, Rowlands CF, Qureshi WMS, Thomas HB, Buczek WA, Briggs TA, Hubbard SJ, Hentges KE, Newman WG, O'Keefe RT.

Hum Mol Genet. 2019 Nov 15;28(22):3704-3723. doi: 10.1093/hmg/ddz169.

11.

A case-control evaluation of 143 single nucleotide polymorphisms for breast cancer risk stratification with classical factors and mammographic density.

Brentnall AR, van Veen EM, Harkness EF, Rafiq S, Byers H, Astley SM, Sampson S, Howell A, Newman WG, Cuzick J, Evans DGR.

Int J Cancer. 2020 Apr 15;146(8):2122-2129. doi: 10.1002/ijc.32541. Epub 2019 Jul 13.

PMID:
31251818
12.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

13.

Accounting for Capacity Constraints in Economic Evaluations of Precision Medicine: A Systematic Review.

Wright SJ, Newman WG, Payne K.

Pharmacoeconomics. 2019 Aug;37(8):1011-1027. doi: 10.1007/s40273-019-00801-9. Review.

14.

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.

Kolvenbach CM, Dworschak GC, Frese S, Japp AS, Schuster P, Wenzlitschke N, Yilmaz Ö, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause F, Schneider R, Taranta-Janusz K, Szczepańska M, Pawlaczyk K, Newman WG, Beaman GM, Stuart HM, Cervellione RM, Feitz WFJ, van Rooij IALM, Schreuder MF, Steffens M, Weber S, Merz WM, Feldkötter M, Hoppe B, Thiele H, Altmüller J, Berg C, Kristiansen G, Ludwig M, Reutter H, Woolf AS, Hildebrandt F, Grote P, Zaniew M, Odermatt B, Hilger AC.

Am J Hum Genet. 2019 May 2;104(5):994-1006. doi: 10.1016/j.ajhg.2019.03.023.

15.

Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants.

Evans DGR, Harkness EF, Brentnall AR, van Veen EM, Astley SM, Byers H, Sampson S, Southworth J, Stavrinos P, Howell SJ, Maxwell AJ, Howell A, Newman WG, Cuzick J.

Breast Cancer Res Treat. 2019 Jul;176(1):141-148. doi: 10.1007/s10549-019-05210-2. Epub 2019 Apr 2.

16.

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ, Gardiner NJ, Chopra K, Coletta R, Bajwa Z, Hall RJ, Yue WW, Schaefer F, Weber S, Henriksson R, Stuart HM, Hedman H, Newman WG, Woolf AS.

Kidney Int. 2019 May;95(5):1138-1152. doi: 10.1016/j.kint.2018.11.040. Epub 2019 Mar 8.

17.

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.

Beaman GM, Woolf AS, Cervellione RM, Keene D, Mushtaq I, Urquhart JE, Stuart HM, Newman WG.

Am J Med Genet A. 2019 Mar;179(3):404-409. doi: 10.1002/ajmg.a.61032. Epub 2019 Jan 9.

PMID:
30628148
18.

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock FA, O'Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD.

Circ Res. 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250.

19.

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, Tyrer JP, Chen TH, Wang Q, Bolla MK, Yang X, Adank MA, Ahearn T, Aittomäki K, Allen J, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Auer PL, Auvinen P, Barrdahl M, Beane Freeman LE, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Brenner H, Brentnall A, Brock IW, Brooks-Wilson A, Brucker SY, Brüning T, Burwinkel B, Campa D, Carter BD, Castelao JE, Chanock SJ, Chlebowski R, Christiansen H, Clarke CL, Collée JM, Cordina-Duverger E, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dos-Santos-Silva I, Dumont M, Durcan L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Engel C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Försti A, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur SM, García-Sáenz JA, Gaudet MM, Georgoulias V, Giles GG, Gilyazova IR, Glendon G, Goldberg MS, Goldgar DE, González-Neira A, Grenaker Alnæs GI, Grip M, Gronwald J, Grundy A, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hankinson SE, Harkness EF, Hart SN, He W, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huang G, Humphreys K, Hunter DJ, Jakimovska M, Jakubowska A, Janni W, John EM, Johnson N, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kaczmarek K, Kataja V, Keeman R, Kerin MJ, Khusnutdinova E, Kiiski JI, Knight JA, Ko YD, Kosma VM, Koutros S, Kristensen VN, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Lilyquist J, Lindblom A, Lindström S, Lissowska J, Lo WY, Loibl S, Long J, Lubiński J, Lux MP, MacInnis RJ, Maishman T, Makalic E, Maleva Kostovska I, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Martinez ME, Mavroudis D, McLean C, Meindl A, Menon U, Middha P, Miller N, Moreno F, Mulligan AM, Mulot C, Muñoz-Garzon VM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Nielsen SF, Nordestgaard BG, Norman A, Offit K, Olson JE, Olsson H, Orr N, Pankratz VS, Park-Simon TW, Perez JIA, Pérez-Barrios C, Peterlongo P, Peto J, Pinchev M, Plaseska-Karanfilska D, Polley EC, Prentice R, Presneau N, Prokofyeva D, Purrington K, Pylkäs K, Rack B, Radice P, Rau-Murthy R, Rennert G, Rennert HS, Rhenius V, Robson M, Romero A, Ruddy KJ, Ruebner M, Saloustros E, Sandler DP, Sawyer EJ, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott RJ, Seynaeve C, Shah M, Sherman ME, Shrubsole MJ, Shu XO, Slager S, Smeets A, Sohn C, Soucy P, Southey MC, Spinelli JJ, Stegmaier C, Stone J, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Thöne K, Tollenaar RAEM, Tomlinson I, Truong T, Tzardi M, Ulmer HU, Untch M, Vachon CM, van Veen EM, Vijai J, Weinberg CR, Wendt C, Whittemore AS, Wildiers H, Willett W, Winqvist R, Wolk A, Yang XR, Yannoukakos D, Zhang Y, Zheng W, Ziogas A; ABCTB Investigators; kConFab/AOCS Investigators; NBCS Collaborators, Dunning AM, Thompson DJ, Chenevix-Trench G, Chang-Claude J, Schmidt MK, Hall P, Milne RL, Pharoah PDP, Antoniou AC, Chatterjee N, Kraft P, García-Closas M, Simard J, Easton DF.

Am J Hum Genet. 2019 Jan 3;104(1):21-34. doi: 10.1016/j.ajhg.2018.11.002. Epub 2018 Dec 13.

20.

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.

Faundes V, Malone G, Newman WG, Banka S.

J Hum Genet. 2019 Feb;64(2):161-170. doi: 10.1038/s10038-018-0536-6. Epub 2018 Nov 20.

PMID:
30459467
21.

Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.

Pei Y, Beaman GM, Mansfield D, Clayton-Smith J, Stewart M, Newman WG.

Eur J Med Genet. 2019 Jun;62(6):103536. doi: 10.1016/j.ejmg.2018.09.003. Epub 2018 Sep 11.

PMID:
30217753
22.

Perrault Syndrome.

Newman WG, Friedman TB, Conway GS, Demain LAM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2014 Sep 25 [updated 2018 Sep 6].

23.

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.

Evans DGR, van Veen EM, Byers HJ, Wallace AJ, Ellingford JM, Beaman G, Santoyo-Lopez J, Aitman TJ, Eccles DM, Lalloo FI, Smith MJ, Newman WG.

Am J Hum Genet. 2018 Aug 2;103(2):213-220. doi: 10.1016/j.ajhg.2018.07.002.

24.

Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.

Oerum S, Roovers M, Rambo RP, Kopec J, Bailey HJ, Fitzpatrick F, Newman JA, Newman WG, Amberger A, Zschocke J, Droogmans L, Oppermann U, Yue WW.

J Biol Chem. 2018 Aug 17;293(33):12862-12876. doi: 10.1074/jbc.RA117.001286. Epub 2018 Jun 7.

25.

Urofacial Syndrome.

Newman WG, Woolf AS.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2013 Aug 22 [updated 2018 Jun 7].

26.

A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.

Demain LAM, Antunes D, O'Sullivan J, Bhaskhar SS, O'Keefe RT, Newman WG.

Clin Genet. 2018 Aug;94(2):276-277. doi: 10.1111/cge.13255. Epub 2018 Apr 19. No abstract available.

PMID:
29671881
27.

Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction.

van Veen EM, Brentnall AR, Byers H, Harkness EF, Astley SM, Sampson S, Howell A, Newman WG, Cuzick J, Evans DGR.

JAMA Oncol. 2018 Apr 1;4(4):476-482. doi: 10.1001/jamaoncol.2017.4881.

28.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study, Banka S.

Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.

29.

Marfanoid habitus is a nonspecific feature of Perrault syndrome.

Zerkaoui M, Demain LAM, Cherkaoui Jaouad I, Ratbi I, Amjoud K, Urquhart JE, O'Sullivan J, Newman WG, Sefiani A.

Clin Dysmorphol. 2017 Oct;26(4):200-204. doi: 10.1097/MCD.0000000000000198.

PMID:
28832386
30.

First evidence of genotype-phenotype correlations in Gorlin syndrome.

Evans DG, Oudit D, Smith MJ, Rutkowski D, Allan E, Newman WG, Lear JT.

J Med Genet. 2017 Aug;54(8):530-536. doi: 10.1136/jmedgenet-2017-104669. Epub 2017 Jun 8.

PMID:
28596197
31.

Validation of copy number variation analysis for next-generation sequencing diagnostics.

Ellingford JM, Campbell C, Barton S, Bhaskar S, Gupta S, Taylor RL, Sergouniotis PI, Horn B, Lamb JA, Michaelides M, Webster AR, Newman WG, Panda B, Ramsden SC, Black GC.

Eur J Hum Genet. 2017 Jun;25(6):719-724. doi: 10.1038/ejhg.2017.42. Epub 2017 Apr 5.

32.

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

Sharkia R, Shalev SA, Zalan A, Marom-David M, Watemberg N, Urquhart JE, Daly SB, Bhaskar SS, Williams SG, Newman WG, Spiegel R, Azem A, Elpeleg O, Mahajnah M.

Am J Med Genet A. 2017 Apr;173(4):1051-1055. doi: 10.1002/ajmg.a.38140.

PMID:
28328138
33.

Severe intellectual disability in a patient with Burn-McKeown syndrome.

Strang-Karlsson S, Urquhart J, Newman WG, Douzgou S.

Clin Dysmorphol. 2017 Jul;26(3):193-194. doi: 10.1097/MCD.0000000000000175. No abstract available.

PMID:
28225383
34.

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

Luo Y, de Lange KM, Jostins L, Moutsianas L, Randall J, Kennedy NA, Lamb CA, McCarthy S, Ahmad T, Edwards C, Serra EG, Hart A, Hawkey C, Mansfield JC, Mowat C, Newman WG, Nichols S, Pollard M, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson DC, Lee JC, Prescott NJ, Lees CW, Mathew CG, Parkes M, Barrett JC, Anderson CA.

Nat Genet. 2017 Feb;49(2):186-192. doi: 10.1038/ng.3761. Epub 2017 Jan 9.

35.

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

de Lange KM, Moutsianas L, Lee JC, Lamb CA, Luo Y, Kennedy NA, Jostins L, Rice DL, Gutierrez-Achury J, Ji SG, Heap G, Nimmo ER, Edwards C, Henderson P, Mowat C, Sanderson J, Satsangi J, Simmons A, Wilson DC, Tremelling M, Hart A, Mathew CG, Newman WG, Parkes M, Lees CW, Uhlig H, Hawkey C, Prescott NJ, Ahmad T, Mansfield JC, Anderson CA, Barrett JC.

Nat Genet. 2017 Feb;49(2):256-261. doi: 10.1038/ng.3760. Epub 2017 Jan 9.

36.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

Böhm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N, Laporte J.

Hum Mutat. 2017 Apr;38(4):426-438. doi: 10.1002/humu.23172. Epub 2017 Feb 2.

PMID:
28058752
37.

Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials.

Cuzick J, Brentnall AR, Segal C, Byers H, Reuter C, Detre S, Lopez-Knowles E, Sestak I, Howell A, Powles TJ, Newman WG, Dowsett M.

J Clin Oncol. 2017 Mar;35(7):743-750. doi: 10.1200/JCO.2016.69.8944. Epub 2016 Dec 28.

38.

The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control study.

Evans DG, Brentnall A, Byers H, Harkness E, Stavrinos P, Howell A; FH-risk study Group, Newman WG, Cuzick J.

J Med Genet. 2017 Feb;54(2):111-113. doi: 10.1136/jmedgenet-2016-104125. Epub 2016 Oct 28.

PMID:
27794048
39.

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.

Breen C, Mercer J, Jones SA, Jahic A, Heptinstall L, Tylee K, Newman WG, Beetz C.

Hum Genome Var. 2016 Oct 6;3:16031. eCollection 2016.

40.

Genetics of mitochondrial dysfunction and infertility.

Demain LA, Conway GS, Newman WG.

Clin Genet. 2017 Feb;91(2):199-207. doi: 10.1111/cge.12896. Epub 2016 Dec 9. Review.

PMID:
27748512
41.

Non lethal Raine syndrome and differential diagnosis.

Elalaoui SC, Al-Sheqaih N, Ratbi I, Urquhart JE, O'Sullivan J, Bhaskar S, Williams SS, Elalloussi M, Lyahyai J, Sbihi L, Cherkaoui Jaouad I, Sbihi A, Newman WG, Sefiani A.

Eur J Med Genet. 2016 Nov;59(11):577-583. doi: 10.1016/j.ejmg.2016.09.018. Epub 2016 Sep 22.

PMID:
27667191
42.

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

Ratbi I, Jaouad IC, Elorch H, Al-Sheqaih N, Elalloussi M, Lyahyai J, Berraho A, Newman WG, Sefiani A.

Eur J Med Genet. 2016 Oct;59(10):507-11. doi: 10.1016/j.ejmg.2016.09.004. Epub 2016 Sep 12.

PMID:
27633571
43.

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.

Faridi R, Rehman AU, Morell RJ, Friedman PL, Demain L, Zahra S, Khan AA, Tohlob D, Assir MZ, Beaman G, Khan SN, Newman WG, Riazuddin S, Friedman TB.

Clin Genet. 2017 Feb;91(2):328-332. doi: 10.1111/cge.12867. Epub 2016 Nov 16.

44.

A synonymous variant in TREX1 is associated with systemic sclerosis and severe digital ischaemia.

Hughes M, Little J, Herrick AL, Pushpakom S, Byers H, Worthington J, Newman WG.

Scand J Rheumatol. 2017 Jan;46(1):77-78. doi: 10.1080/03009742.2016.1195872. Epub 2016 Aug 30. No abstract available.

PMID:
27574969
45.

Association of a promoter polymorphism in FSHR with ovarian reserve and response to ovarian stimulation in women undergoing assisted reproductive treatment.

Tohlob D, Abo Hashem E, Ghareeb N, Ghanem M, Elfarahaty R, Byers H, Pemberton P, Roberts SA, Newman WG, Mohiyiddeen L.

Reprod Biomed Online. 2016 Sep;33(3):391-7. doi: 10.1016/j.rbmo.2016.06.001. Epub 2016 Jun 17.

PMID:
27448492
46.

Relationship of ZNF423 and CTSO with breast cancer risk in two randomised tamoxifen prevention trials.

Brentnall AR, Cuzick J, Byers H, Segal C, Reuter C, Detre S, Sestak I, Howell A, Powles TJ, Newman WG, Dowsett M.

Breast Cancer Res Treat. 2016 Aug;158(3):591-6. doi: 10.1007/s10549-016-3885-x. Epub 2016 Jul 11.

47.

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF.

Eur J Hum Genet. 2016 Nov;24(11):1565-1571. doi: 10.1038/ejhg.2016.62. Epub 2016 Jun 15.

48.

Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

Byers H, Wallis Y, van Veen EM, Lalloo F, Reay K, Smith P, Wallace AJ, Bowers N, Newman WG, Evans DG.

Eur J Hum Genet. 2016 Nov;24(11):1591-1597. doi: 10.1038/ejhg.2016.57. Epub 2016 Jun 8.

49.

AMH type II receptor and AMH gene polymorphisms are not associated with ovarian reserve, response, or outcomes in ovarian stimulation.

Cerra C, Newman WG, Tohlob D, Byers H, Horne G, Roberts SA, Mohiyiddeen L.

J Assist Reprod Genet. 2016 Aug;33(8):1085-91. doi: 10.1007/s10815-016-0711-7. Epub 2016 May 3.

50.

Expanding the genotypic spectrum of Perrault syndrome.

Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG.

Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1.

PMID:
26970254

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