Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Publication: Genome Medicine

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

7 December 2018

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Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis

Publication: PLoS Genetics

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

3 December 2018

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Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum

Publication: Clinical Genetics

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

24 October 2018

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SYT1-associated neurodevelopmental disorder: a case series

Publication: Brain

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

13 August 2018

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A Randomised Controlled Trial of High versus Ad Libitum Water Intake in Patients with Autosomal Dominant Polycystic Kidney Disease: Rationale and Design of the DRINK Feasibility Trial

Publication: BMJ

R El-Damanawi, M Lee, T Harris, L Mader, S Bond, H Pavey, et al.

9 May 2018

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Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.

Publication: Lancet

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

November 2017


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.

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Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

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.

2 February 2017

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

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

29 December 2016

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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

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

19 December 2016

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A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).

Publication: Hum Mutat

Shaikh SS, Chen YC, Halsall SA, Nahorski MS, Omoto K, Young GT, Phelan A, Woods CG.

26 November 2016

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