Publications

Publication: Intensive Care Medicine

French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H, , Rowitch DH, Raymond FL

07 March 2019

View publication

Publication: European Journal of Human Genetics

Nixon TRW, Richards A, Towns LK, Fuller G, Abbs S, Alexander P, et al.

2019 Mar;27(3):369-377

View publication

Publication: Genetics Medicine

Crosbie EJ, Ryan NAJ, Arends MJ, Bosse T, Burn J, Cornes JM, Crawford R, Eccles D, Frayling IM, Ghaem-Maghami S, Hampel H, Kauff ND, Kitchener HC, Kitson SJ, Manchanda R, McMahon RFT, Monahan KJ, Menon U, Møller P, Möslein G, Rosenthal A, Sasieni P, Seif MW, Singh N, Skarrott P, Snowsill TM, Steele R, Tischkowitz M;

2019 Mar 28

View publication

Publication: Nature Reviews

Monk D, Mackay DJG, Eggermann T, Maher ER, Riccio A.

2019 Apr;20(4):235-248

View publication

Publication: Clinical Genetics

Yates TM, Langley CLM, Grozeva D, Raymond FL, Johnson DS.

2019 Feb;95(2):334-335

View publication

Publication: Genetics in Medicine

Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, Babb de Villiers C, Izquierdo A, Simard J, Schmidt MK, Walter FM, Chatterjee N, Garcia-Closas M, Tischkowitz M, Pharoah P, Easton DF, Antoniou AC.

2019 Jan 15.

View publication

Publication: PLoS Genetics

Darlay R, Ayers KL, Mells GF, Hall LS, Liu JZ, Almarri MA, et al.

2018 Dec;14(12):e1007833

View publication

Publication: Clinical Gastroenterology Hepatology

Hegade VS, Mells GF, Fisher H, Kendrick S, DiBello J, Gilchrist K, et al.

2018 Dec 14;

View publication

Publication: Clinical Endicrinology

Wong MY, Andrews KA, Challis BG, Park SM, Acerini CL, Maher ER, et al.

2018 Dec 27;

View publication

Publication: Hepatology

Goode EC, Clark AB, Mells GM, Srivastava B, Spiess K, Gelson WTH, et al.

2018 Dec 19

View publication

Publication: Genome Medicine

Sanchis-Juan A, Stephens J, French CE, Gleadall N, Megy K, Penkett C, et al.

2018 Dec 7;10(1):95

View publication

Publication: Brain

Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, et al.

2018 Sep 1;141(9):2576-2591

View publication

Publication: Lancet

Schormair, B., Zhao, C., Bell, S. et al.

Lancet Neurology; 10th October 2017; DOI: 10.1016/S1474-4422(17)30327-7


Summary:

A new study into the genetics underlying restless legs syndrome has identified 13 previously-unknown genetic risk variants, while helping inform potential new treatment options for the condition.

Studies of families and twins have shown that there is a strong genetic component to the disorder and led to the discovery of six genetic variants that increased the risk of developing the condition.

View publication

Publication: Nat Genet

Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium.; Deciphering Developmental Disorders Study.; NIHR BioResource Rare Diseases Consortium., Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. PMID:27992417

View publication

Publication: Nat Genet

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308

View publication

Publication: Brain

Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG 2016 Apr;139(Pt 4):1036-44. doi: 10.1093/brain/aww014 PMID: 26917597

View publication

Publication: Hum Mutat

Shaikh SS, Chen YC, Halsall SA, Nahorski MS, Omoto K, Young GT, Phelan A, Woods CG. 2017 Jan;38(1):55-63. doi: 10.1002/humu.23123. PMID: 27676246

View publication

Publication: Am J Hum Genet.

Lee JY, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JY, McLean WH, Simpson MA, Parsons M, McGrath JA. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014. PMID: 28157540

View publication

Publication: Am J Hum Genet

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium., Webster AR, Raymond FL 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003 PMID:28041643

View publication

Publication:

Sciacovelli M, Gonçalves E, Johnson TI, Zecchini VR, da Costa AS, Gaude E, Drubbel AV, Theobald SJ, Abbo SR, Tran MG, Rajeeve V, Cardaci S, Foster S, Yun H, Cutillas P, Warren A, Gnanapragasam V, Gottlieb E, Franze K, Huntly B, Maher ER, Maxwell PH, Saez-Rodriguez J, Frezza C.

Nature. 2016 Aug 31;537(7621):544-547. doi: 10.1038/nature19353.

View publication