Research output per year
Research output per year
- 150 - 187 out of 187 results
Search results
-
2012
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Jones, W. D., Dafou, D., McEntagart, M., Woollard, W. J., Elmslie, F. V., Holder-Espinasse, M., Irving, M., Saggar, A. K., Smithson, S., Trembath, R. C., Deshpande, C. & Simpson, M. A., 10 Aug 2012, (E-pub ahead of print) In: American Journal of Human Genetics. 91, 2, p. 358-364 7 p.Research output: Contribution to journal › Article › peer-review
217 Citations (Scopus) -
De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome
Simpson, M. A., Deshpande, C., Dafou, D., Vissers, L. E. L. M., Woollard, W. J., Holder, S. E., Gillessen-Kaesbach, G., Derks, R., White, S. M., Cohen-Snuijf, R., Kant, S. G., Hoefsloot, L. H., Reardon, W., Brunner, H. G., Bongers, E. M. H. F. & Trembath, R. C., 10 Feb 2012, In: American Journal of Human Genetics. 90, 2, p. 290 - 294 5 p.Research output: Contribution to journal › Article › peer-review
79 Citations (Scopus) -
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility
McGrath, J. A., Stone, K. L., Begum, R., Simpson, M. A., Dopping-Hepenstal, P. J., Liu, L., McMillan, J. R., South, A. P., Pourreyron, C., McLean, W. H. I., Martinez, A. E., Mellerio, J. E. & Parsons, M., 7 Dec 2012, In: American Journal of Human Genetics. 91, 6, p. 1115-1121 7 p.Research output: Contribution to journal › Article › peer-review
60 Citations (Scopus) -
Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene
Onoufriadis, A., Simpson, M. A., Burden, A. D., Barker, J. N., Trembath, R. & Capon, F., Apr 2012, In: Journal of Investigative Dermatology. 132, 4, p. 1297 - 1299 3 p.Research output: Contribution to journal › Letter › peer-review
10 Citations (Scopus) -
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy
Ostergaard, P., Simpson, M. A., Mendola, A., Vasudevan, P., Connell, F. C., van Impel, A., Moore, A. T., Loeys, B. L., Ghalamkarpour, A., Onoufriadis, A., Martinez-Corral, I., Devery, S., Leroy, J. G., van Laer, L., Singer, A., Bialer, M. G., McEntagart, M., Quarrell, O., Brice, G., Trembath, R. C., & 6 others, 10 Feb 2012, In: American Journal of Human Genetics. 90, 2, p. 356 - 362 7 p.Research output: Contribution to journal › Article › peer-review
136 Citations (Scopus) -
Mutations in the gamma-Secretase Genes NCSTN, PSENEN, and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa)
Pink, A. E., Simpson, M. A., Desai, N., Dafou, D., Hills, A., Mortimer, P. S., Smith, C. H., Trembath, R. C. & Barker, J. N. W., Oct 2012, In: Journal of Investigative Dermatology. 132, 10, p. 2459-2461 3 p.Research output: Contribution to journal › Letter › peer-review
128 Citations (Scopus) -
Next-generation diagnostics for genodermatoses
Cho, R. J., Simpson, M. A. & McGrath, J. A., Nov 2012, In: Journal of Investigative Dermatology. 132, E1, p. E27-E28 2 p., N/A.Research output: Contribution to journal › Article › peer-review
8 Citations (Scopus) -
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes
Christodoulou, K., Wiskin, A. E., Gibson, J., Tapper, W., Willis, C., Afzal, N. A., Upstill-Goddard, R., Holloway, J. W., Simpson, M. A., Beattie, R. M., Collins, A. & Ennis, S., 28 Apr 2012, (E-pub ahead of print) In: Gut.Research output: Contribution to journal › Article › peer-review
102 Citations (Scopus) -
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome
Lai-Cheong, J. E., Sethuraman, G., Ramam, M., Stone, K., Simpson, M. A. & McGrath, J. A., Aug 2012, In: British Journal of Dermatology. 167, 2, p. 440-442 3 p., N/A.Research output: Contribution to journal › Article › peer-review
64 Citations (Scopus) -
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome
Gray, M. J., Kim, C. A., Bertola, D. R., Arantes, P. R., Stewart, H., Simpson, M. A., Irving, M. D. & Robertson, S. P., Jan 2012, In: European Journal of Human Genetics. 20, 1, p. 122 - 124 3 p.Research output: Contribution to journal › Article › peer-review
58 Citations (Scopus) -
2011
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., Blaumeiser, B., Winship, W. S., Reardon, W., Maher, E. R., FitzPatrick, D. R., Wuyts, W., Zenker, M., Lamarche-Vane, N., & 1 others, 13 May 2011, In: American Journal of Human Genetics. 88, 5, p. 574 - 585 12 p.Research output: Contribution to journal › Article › peer-review
97 Citations (Scopus) -
Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit
Ostergaard, P., Simpson, M. A. & Jeffery, S., Aug 2011, In: Clinical Genetics. 80, 2, p. 110 - 116 7 p.Research output: Contribution to journal › Literature review › peer-review
4 Citations (Scopus) -
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
Ostergaard, P., Simpson, M. A., Connell, F. C., Steward, C. G., Brice, G., Woollard, W. J., Dafou, D., Kilo, T., Smithson, S., Lunt, P., Murday, V. A., Hodgson, S., Keenan, R., Pilz, D. T., Martinez-Corral, I., Makinen, T., Mortimer, P. S., Jeffery, S., Trembath, R. C. & Mansour, S., Oct 2011, In: Nature Genetics. 43, 10, p. 929 - 931 3 p.Research output: Contribution to journal › Article › peer-review
433 Citations (Scopus) -
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis
Onoufriadis, A., Simpson, M. A., Pink, A. E., Di Meglio, P., Smith, C. H., Pullabhatla, V., Knight, J., Spain, S. L., Nestle, F. O., Burden, A. D., Capon, F., Trembath, R. C. & Barker, J. N., 9 Sept 2011, In: American Journal of Human Genetics. 89, 3, p. 432-437 6 p.Research output: Contribution to journal › Article › peer-review
444 Citations (Scopus) -
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
Simpson, M. A., Irving, M. D., Asilmaz, E., Gray, M. J., Dafou, D., Elmslie, F. V., Mansour, S., Holder, S. E., Brain, C. E., Burton, B. K., Kim, K. H., Pauli, R. M., Aftimos, S., Stewart, H., Kim, C. A., Holder-Espinasse, M., Robertson, S. P., Drake, W. M. & Trembath, R. C., Feb 2011, In: Nature Genetics. 43, 4, p. 303 - 305 3 p.Research output: Contribution to journal › Article › peer-review
248 Citations (Scopus) -
PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa)
Pink, A. E., Simpson, M. A., Brice, G. W., Smith, C. H., Desai, N., Mortimer, P. S., Barker, J. N. W. N. & Trembath, R. C., Jul 2011, In: Journal of Investigative Dermatology. 131, 7, p. 1568-70 3 p.Research output: Contribution to journal › Letter › peer-review
97 Citations (Scopus) -
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
Ostergaard, P., Simpson, M. A., Brice, G., Mansour, S., Connell, F. C., Onoufriadis, A., Child, A. H., Hwang, J., Kalidas, K., Mortimer, P. S., Trembath, R. & Jeffery, S., Apr 2011, In: Journal of Medical Genetics. 48, 4, p. 251 - 255 5 p.Research output: Contribution to journal › Article › peer-review
90 Citations (Scopus) -
2010
A Three-Stage Genome-Wide Association Study of General Cognitive Ability: Hunting the Small Effects
Davis, O. S. P., Butcher, L. M., Docherty, S. J., Meaburn, E. L., Curtis, C. J. C., Simpson, M., Schalkwyk, L. C. & Plomin, R., Nov 2010, In: Behavior Genetics. 40, 6, p. 759 - 767 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile68 Citations (Scopus)282 Downloads (Pure) -
Defective mitochondrial mRNA maturation is associated with spastic ataxia
Crosby, A. H., Patel, H., Chioza, B. A., Proukakis, C., Gurtz, K., Patton, M. A., Sharifi, R., Harlalka, G., Simpson, M. A., Dick, K., Reed, J. A., Al-Memar, A., Chrzanowska-Lightowlers, Z. M. A., Cross, H. E. & Lightowlers, R. N., 12 Nov 2010, In: American Journal of Human Genetics. 87, 5, p. 655-60 6 p.Research output: Contribution to journal › Article › peer-review
69 Citations (Scopus) -
Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent
Kochar, G. S., Choudhary, A., Gadodia, A., Gupta, N., Simpson, M. A., Crosby, A. H. & Kabra, M., Jul 2010, In: Clinical Dysmorphology. 19, 3, p. 153-156 4 p.Research output: Contribution to journal › Article › peer-review
18 Citations (Scopus) -
2009
A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle
Simpson, M. A., Cook, R. W., Solanki, P., Patton, M. A., Dennis, J. A. & Crosby, A. H., Feb 2009, In: Animal Genetics. 40, 1, p. 42-6 5 p.Research output: Contribution to journal › Article › peer-review
29 Citations (Scopus) -
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair
Simpson, M. A., Mansour, S., Ahnood, D., Kalidas, K., Patton, M. A., McKenna, W. J., Behr, E. R. & Crosby, A. H., Mar 2009, In: Cardiology. 113, 1, p. 28-34 7 p.Research output: Contribution to journal › Article › peer-review
82 Citations (Scopus) -
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3
Simpson, M. A., Cross, H. E., Cross, L., Helmuth, M. & Crosby, A. H., May 2009, In: American journal of kidney diseases : the official journal of the National Kidney Foundation. 53, 5, p. 790-795 6 p.Research output: Contribution to journal › Article › peer-review
13 Citations (Scopus) -
Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia
Simpson, M. A., Scheuerle, A., Hurst, J., Patton, M. A., Stewart, H. & Crosby, A. H., Mar 2009, In: Clinical Genetics. 75, 3, p. 271-276 6 p.Research output: Contribution to journal › Article › peer-review
87 Citations (Scopus) -
2008
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
Dick, K. J., Al-Mjeni, R., Baskir, W., Koul, R., Simpson, M. A., Patton, M. A., Raeburn, S. & Crosby, A. H., 22 Jul 2008, In: Neurology. 71, 4, p. 248-52 5 p.Research output: Contribution to journal › Article › peer-review
48 Citations (Scopus) -
Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish
Zahka, K., Kalidas, K., Simpson, M. A., Cross, H., Keller, B. B., Galambos, C., Gurtz, K., Patton, M. A. & Crosby, A. H., Oct 2008, In: Heart. 94, 10, p. 1326-30 5 p.Research output: Contribution to journal › Article › peer-review
60 Citations (Scopus) -
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
Tsaousidou, M. K., Ouahchi, K., Warner, T. T., Yang, Y., Simpson, M. A., Laing, N. G., Wilkinson, P. A., Madrid, R. E., Patel, H., Hentati, F., Patton, M. A., Hentati, A., Lamont, P. J., Siddique, T. & Crosby, A. H., 8 Feb 2008, In: American Journal of Human Genetics. 82, 2, p. 510-515 6 p.Research output: Contribution to journal › Article › peer-review
158 Citations (Scopus) -
2007
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development
Simpson, M. A., Hsu, R., Keir, L. S., Hao, J., Sivapalan, G., Ernst, L. M., Zackai, E. H., Al-Gazali, L. I., Hulskamp, G., Kingston, H. M., Prescott, T. E., Ion, A., Patton, M. A., Murday, V., George, A. & Crosby, A. H., Nov 2007, In: American Journal of Human Genetics. 81, 5, p. 906-12 7 p.Research output: Contribution to journal › Article › peer-review
168 Citations (Scopus) -
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families
Hashemzadeh Chaleshtori, M., Simpson, M. A., Farrokhi, E., Dolati, M., Hoghooghi Rad, L., Amani Geshnigani, S. & Crosby, A. H., Sept 2007, In: Clinical Genetics. 72, 3, p. 261-3 3 p.Research output: Contribution to journal › Article › peer-review
30 Citations (Scopus) -
2006
Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons
Robay, D., Patel, H., Simpson, M. A., Brown, N. A. & Crosby, A. H., 10 Sept 2006, In: Experimental Cell Research. 312, 15, p. 2764-2777 14 p.Research output: Contribution to journal › Article › peer-review
28 Citations (Scopus) -
2005
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14
Wilkinson, P. A., Simpson, M. A., Bastaki, L., Patel, H., Reed, J. A., Kalidas, K., Samilchuk, E., Khan, R., Warner, T. T. & Crosby, A. H., Jan 2005, In: Journal of Medical Genetics. 42, 1, p. 80-82 3 p.Research output: Contribution to journal › Article › peer-review
43 Citations (Scopus) -
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia
Reed, J. A., Wilkinson, P. A., Patel, H., Simpson, M. A., Chatonnet, A., Robay, D., Patton, M. A., Crosby, A. H. & Warner, T. T., May 2005, In: NEUROGENETICS. 6, 2, p. 79-84 6 p.Research output: Contribution to journal › Article › peer-review
49 Citations (Scopus) -
Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset
Brockmann, K., Simpson, M. A., Faber, A., Bönnemann, C., Crosby, A. H. & Gärtner, J., Aug 2005, In: Neuropediatrics. 36, 4, p. 274-8 5 p.Research output: Contribution to journal › Article › peer-review
16 Citations (Scopus) -
Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy
Norman, M., Simpson, M., Mogensen, J., Shaw, A., Hughes, S., Syrris, P., Sen-Chowdhry, S., Rowland, E., Crosby, A. & McKenna, W. J., 2 Aug 2005, In: Circulation (Baltimore). 112, 5, p. 636-42 7 p.Research output: Contribution to journal › Article › peer-review
247 Citations (Scopus) -
2004
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase
Simpson, M. A., Cross, H., Proukakis, C., Priestman, D. A., Neville, D. C. A., Reinkensmeier, G., Wang, H., Wiznitzer, M., Gurtz, K., Verganelaki, A., Pryde, A., Patton, M. A., Dwek, R. A., Butters, T. D., Platt, F. M. & Crosby, A. H., Nov 2004, In: Nature Genetics. 36, 11, p. 1225-9 5 p.Research output: Contribution to journal › Article › peer-review
354 Citations (Scopus) -
2003
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
Simpson, M. A., Cross, H., Proukakis, C., Pryde, A., Hershberger, R., Chatonnet, A., Patton, M. A. & Crosby, A. H., Nov 2003, In: American Journal of Human Genetics. 73, 5, p. 1147-56 10 p.Research output: Contribution to journal › Article › peer-review
153 Citations (Scopus) -
2002
Diagnostic strategies in CADASIL
Markus, H. S., Martin, R. J., Simpson, M., Dong, Y. B., Ali, N., Crosby, A. N. & Powell, J. F., 22 Oct 2002, In: Neurology. 59, 8, p. 1134 - 1138 5 p.Research output: Contribution to journal › Article › peer-review
314 Citations (Scopus)