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Professor Michael Simpson


  • Pink AE, Simpson MA, Desai N, Trembath RC, Barker JNW.  Gamma-secretase mutations in Hidradenitis Suppurativa: New insights in to disease pathogenesis. (2012).  J Invest Dermatol (doi: 10.1038/jid.2012.372. [Epub ahead of print]))
  • Pink AE, Simpson MA, Desai N, Dafou D, Hills A, Mortimer P, Smith CH, Trembath RC, Barker JN.  Mutations in the γ-Secretase Genes NCSTN, PSENEN, and PSEN1 Underlie Rare Forms of HidradenitisSuppurativa (Acne Inversa) (2012)  J Invest Dermatol, (doi: 10.1038/jid.2012.162. [Epub ahead of print])
  • Christodoulou K, Wiskin AE, Gibson J, Tapper W, Willis C, Afzal NA, Upstill-Goddard R, Holloway JW, Simpson MA, Beattie RM, Collins A, Ennis S.  Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes. (2012).  Gut (doi:10.1136/gutjnl-2011-301833 [Epub ahead of print])
  • Jones WD, Dafou D, McEntagart M, Woollard WJ, Elmslie FV, Holder-Espinasse M, Irving M, Saggar AK, Smithson S, Trembath RC, Deshpande C, Simpson MADe Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome (2012).  Am J Hum Genet, 91(2):358-64
  • Ostergaard P*, Simpson MA*, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore A, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S.  Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy. (2012).  Am J Hum Genet, 90(2):356-362.
  • Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC.   De novo mutations of the gene encoding the histone acetyltransferaseKAT6B cause Genitopatellar syndrome. (2012).  Am J Hum Genet. 90(2):290-4.
  • Lai-CheongJE, Sethuraman G, Ramam, Stone K, Simpson MA, McGrath JA. Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3gene in an Indian boy with sporadic Olmsted syndrome (2012). Br J Derm, 167, 440-442.

  • Onoufriadis A*, Simpson MA*, Pink AE, Di Meglio P, Smith CH, Pullabhatla V, Knight J, Spain SL, Nestle FO, Burden AD, Capon F, Trembath RC, Barker JN.  Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. (2011) Am J Hum Genet, 89(3):432-7.
  • Onoufriadis A, Simpson MA, Burden D, Barker JN, Trembath RC, Capon F. Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene. (2012).  J Invest Dermatol, 132(4):1297-9.
  • GrayMJ, Kim CA, Stewart H, Simpson MA, Irving MD, Robertson SP. Serpentine Fibula Polycystic Kidney Disease is part of the phenotypic spectrum of Hajdu-Cheney Syndrome. (2012).  Eur J Hum Genet, 20(1):122-4.
  • Ostergaard P*, SimpsonMA*,Connell FC, Steward GC, Brice G, Woollard WJ, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-CorralI, Makinen T, Mortimer PS, Jeffery S , Trembath RC, Mansour S.  Identification of a causative gene for primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). (2011).  Nat Genet,43(10):929-31.
  • Ostergaard P, Simpson MA, Jeffery S.  Invited Review: Parallel Sequencing and the Identification of Genes for Primary Lymphoedema: A Perfect Fit. (2011).  Clin Genet, 80(2):110-6.
  • Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC.  Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1GTPase regulator, cause syndromic cutis aplasia and limb anomalies. (2011).  Am J Hum Genet, 88(5):574-85.
  • Pink AE, Simpson MA, Brice G, Smith C, Desai N, Mortimer P, Barker J, Trembath RC.  PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa). (2011).  J Invest Dermatol, 131, 1568–1570.
  • Simpson MA*, Irving MD*, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Richard PM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M,Robertson SP, Drake WM, Trembath RC. Mutations in NOTCH2 cause Hajdu Cheney syndrome (HCS), a disorder of severe and progressive bone loss. (2011).  Nat Genet,43:303–305.
  • Ostergaard P*, Simpson MA*, Brice G, Mansour S, Connell F, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer P, Trembath R, Jeffery S.  Rapid identification of mutations in GJC2 in four limb primary lymphoedema using whole exome sequencing combined with linkage analysis. (2011).  J Med Genet, 48:251-255 
  • Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZMA, Cross HE, Lightowlers RN.  Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia. (2010).  Am J Hum Genet, 87(5):655-660.
  • Davis OSP, Butcher LM, Meaburn EL, Docherty SJ, Curtis CJC, Simpson MA, Craig IW, Schalkwyk LC, Plomin R.  A three-stage genome-wide association study of general cognitive ability: Hunting the small effect. (2010).  Behav Genet. 40(6):759-767.
  • Kochar GS, Choudhary A, Gadodia A, Gupta N, Simpson MA, Crosby AH, Kabra M.  Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent.(2010).  ClinDysmo 19:153-156
  • Simpson MA, Cross HE, Cross L, Helmuth M, Crosby AH.  Lethal cystic kidney disease in Amish neonates caused by homozygous nonsense mutation of NPHP3.(2009).  Am J Kidney Dis, 53:790-5.
  • Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH. Mutations in FAM20C also identified in non lethal osteosclerotic bone dysplasia. (2009).  Clin Genet, 75:271-276.
  • Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH.  Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild PalmoplantarKeratoderma and Woolly Hair. (2009).  Cardiology, 113:28-34.
  • Simpson MA, Cook RW, Solanki P, Patton MA, Dennis JA, Crosby AH.  A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle. (2008).  Anim Genet, 40: 42-46.
  • Dick KJ, Al Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH.  A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. (2008).  Neurology, 71:248-252.
  • Zahka K, Kalidas K, Simpson MA, Cross H, Keller BB, Galambos C, Gurtz K, Patton MA, Crosby AH.  Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. (2008).  Heart, 94:1326-1330.
  • Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH.  Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration. (2008) Am J Hum Genet, 82:510-515.
  • Simpson MA, Hsu R, KeirLS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH.  Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. (2007).  Am J Hum Genet, 81:906-912.
  • Hashemzadeh CM, Simpson MA, Farrokhi E, Dolati M, HoghooghiRL, AmaniGS, Crosby AH.  Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. (2007).  Clin Genet, 72:261-263.
  • Robay D, Patel H, Simpson MA, Brown N, Crosby AH.  Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localisation suggesting diverse roles in neurons. (2006).  Exp Cell Res, 312(15):2764-77.
  • Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ.  Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. (2005) Circulation, 112(5):636-42.
  • Brockmann K, Simpson MA, Faber A, Bönnemann C, Crosby AH, Gärtner J.  Complicated hereditary spastic paraplegia with thin corpus callosum; two patients with childhood onset. (2005).  Neurogenetics, 36(4):274-8.
  • Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT.  A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. (2005). Neurogenetics, 6(2):79-84.
  • Wilkinson PA, Simpson MA, Bastaki L, Patel H, Reed JA, Kalidas K, Samilchuk E, Khan R, Warner TT, Crosby AH.  A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. (2005).  J Med Genet, 42(1):80-2.
  • Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH.  Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. (2004).  Nat Genet, 36(11):1225-9.
  • Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH.  Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. (2003).  Am J Hum Genet, 73(5):1147-56.
  • Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH, Powell JF. Diagnostic strategies in CADASIL. (2002) Neurology, 59(8):1134-8.
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