Michael Simpson

2022

Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling

the BADBIR Study Group & the BSTOP study group, Sept 2022, In: Arthritis and Rheumatology. 74, 9, p. 1535-1543 9 p.

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10 Citations (Scopus)

35 Downloads (Pure)

Differences in Clinical Features and Comorbid Burden between HLA-C∗06:02 Carrier Groups in >9,000 People with Psoriasis

BADBIR & BSTOP Study Groups, Jun 2022, In: Journal of Investigative Dermatology. 142, 6, p. 1617-1628.e10

Research output: Contribution to journal › Article › peer-review

Open Access

4 Citations (Scopus)

Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death

Neves, R., Tester, D. J., Simpson, M. A., Behr, E. R., Ackerman, M. J. & Giudicessi, J. R., 1 Feb 2022, In: Circulation. Genomic and precision medicine. 15, 1, p. e003497

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Open Access

14 Citations (Scopus)

Genome-wide association meta-analysis identifies 29 new acne susceptibility loci

Mitchell, B. L., Saklatvala, J. R., Dand, N., Hagenbeek, F. A., Li, X., Min, J. L., Thomas, L., Bartels, M., Jan Hottenga, J., Lupton, M. K., Boomsma, D. I., Dong, X., Hveem, K., Løset, M., Martin, N. G., Barker, J. N., Han, J., Smith, C. H., Rentería, M. E. & Simpson, M. A., Dec 2022, In: Nature Communications. 13, 1, 702.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Citations (Scopus)

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

NIHR BioResource & Genomics England Research Consortium Collaborators, Dec 2022, In: Nature Communications. 13, 1, 4840.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Citations (Scopus)

2021

100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report

The 100,000 Genomes Project Pilot Investigators, 11 Nov 2021, In: New England Journal of Medicine. 385, 20, p. 1868-1880 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

210 Citations (Scopus)

Application of information theoretic feature selection and machine learning methods for the development of genetic risk prediction models

BADBIR Study Group & BSTOP study group, Dec 2021, In: Scientific Reports. 11, 1, 23335.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Citations (Scopus)

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance

Ozgencil, M., Barwell, J., Tischkowitz, M., Izatt, L., Kesterton, I., Simpson, M., Sharpe, P., de Sepulveda, P. & Solomon, E. V. E., Dec 2021, In: PLoS ONE. 16, 12, e0260852.

Research output: Contribution to journal › Article › peer-review

Open Access

Confirmation of cause of death via comprehensive autopsy and whole exome molecular sequencing in people with epilepsy and sudden unexpected death

Chahal, C. A. A., Tester, D. J., Fayyaz, A. U., Jaliparthy, K., Khan, N. A., Lu, D., Khan, M., Sahoo, A., Rajendran, A., Knight, J. A., Simpson, M. A., Behr, E. R., So, E. L., St. Louis, E. K., Reichard, R. R., Edwards, W. D., Ackerman, M. J. & Somersv, V. K., 7 Dec 2021, In: Journal of the American Heart Association. 10, 23, e021170.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Citations (Scopus)

DIFFERENCES IN CLINICAL FEATURES AND COMORBID BURDEN BETWEEN HLA-C*06:02 CARRIER GROUPS IN MORE THAN 9,000 PEOPLE WITH PSORIASIS

Douroudis, K., Ramessur, R., Biscaia De Andrade Barbosa, I., Baudry, D., Duckworth, M., Angit, C., Capon, F., Chung, R., Curtis, C., DiMeglio, P., Goudling, J., Griffiths, C., Lee, S., Mahil, S., Parslew, R., Reynolds, N., Shipman, A., warren, R., Yiu, Z., Simpson, M., & 3 othersBarker, J., Dand, N. & Smith, C., 21 Nov 2021, In: Journal of Investigative Dermatology.

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Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family

Mathieu, H., Patten, S. A., Aragon-Martin, J. A., Ocaka, L., Simpson, M., Child, A. & Moldovan, F., Dec 2021, In: Scientific Reports. 11, 1, 11026.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Citations (Scopus)

Patients with triple-negative, JAK2V617F- and CALR-mutated essential thrombocythemia share a unique gene expression signature

Alimam, S., Villiers, W., Dillon, R., Simpson, M., Runglall, M., Smith, A., Chatzikyriakou, P., Lavender, P., Kanda, A., Mills, K., Bellosillo Paricio, B., Kaufman-Cook, J., Ord, S., Kordasti, S., Radia, D., Woodley, C., Francis, Y., Mufti, G., McLornan, D. P. & Harrison, C. N., 23 Feb 2021, In: Blood Advances. 5, 4, p. 1059-1068 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Citations (Scopus)

2020

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Waseem, N. H., Low, S., Shah, A. Z., Avisetti, D., Ostergaard, P., Simpson, M., Niemiec, K. A., Martin-Martin, B., Aldehlawi, H., Usman, S., Lee, P. S., Khawaja, A. P., Ruddle, J. B., Shah, A., Sackey, E., Day, A., Jiang, Y., Swinfield, G., Viswanathan, A., Alfano, G., & 7 othersChakarova, C., Cordell, H. J., Garway-Heath, D. F., Khaw, P. T., Bhattacharya, S. S., Waseem, A. & Foster, P. J., Apr 2020, In: PLoS Genetics. 16, 4, e1008721.

Research output: Contribution to journal › Article › peer-review

Open Access

12 Citations (Scopus)

New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis

Kalay Yildizhan, I., Gökplnar İli, E., Onoufriadis, A., Kocyigit, P., Kesidou, E., Simpson, M. A., McGrath, J. A., Kutlay, N. Y. & Kundakci, N., 2020, (Accepted/In press) In: CYTOGENETIC AND GENOME RESEARCH.

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

EuroEPINOMICS RES Consortium, 1 May 2020, In: Epilepsia. 61, 5, p. 995-1007 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

29 Citations (Scopus)

2019

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Simpson, M. A., Prigmore, E., Jones, P., Armstrong, R., Bennett, C., Berg, J., Bernhard, B., Cooper, N., Cox, H., Flinter, F., Fry, A., Gill, H., Gray, E., Harrison, V., Irving, M., Josifova, D., Langman, C., & 44 othersMohammed, S., Moore, D., Murphy, H., Roberts, J., Tischkowitz, M., Wright, M., Bolton, P., Breen, G., Clement, G., Collier, D., Curran, S., Ellis, P., Evans, D., Hart, D., Hubbard, T., Hysi, P., Jamshidi, Y., Lachance, G., Lopes, M., McGuffin, P., Metrustry, S., Moayyeri, A., Onoufriadis, A., Parr, J. R., Quaye, L., Sharp, S. I., Small, K., Spasic-Boskovic, O., Stevens, E., Valdes, A., Walters, J. T. R., Wang, Y., Bennett, D., Bradley, J. R., Davis, J., Koziell, A., Machado, R., Richards, M., Smith, K., Southgate, L., Thomas, E., Trembath, R., Williamson, C. & Yong, P., 2 May 2019, In: American Journal of Human Genetics. 104, 5, p. 948-956 9 p.

Research output: Contribution to journal › Article › peer-review

38 Citations (Scopus)

Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas

Supsrisunjai, C., Hsu, C-K., Michael, M., Duval, C., Lee, J., Yang, H-S., Huang, H-Y., Thitiwat, C., Onoufriadis, A., Steiner, R., Ariëns, R. A. S., Sarig, O., Sprecher, E., Eskin-Schwartz, M., Samlaska, C., Simpson, M. A., Calonje, E., Parsons, M. & McGrath, J. A., 7 Aug 2019, In: Journal of Investigative Dermatology.

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De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Vadgama, N., Pittman, A., Simpson, M., Nirmalananthan, N., Murray, R., Yoshikawa, T., De Rijk, P., Rees, E., Kirov, G., Hughes, D., Fitzgerald, T., Kristiansen, M., Pearce, K., Cerveira, E., Zhu, Q., Zhang, C., Lee, C., Hardy, J. & Nasir, J., 1 Jul 2019, In: European Journal of Human Genetics. 27, 7, p. 1121-1133 13 p.

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years

Petridis, C., Arora, I., Shah, V., Megalios, A., Moss, C., Mera, A., Clifford, A., Pinder, S. E., Tomlinson, I., Roylance, R., Simpson, M. A. & Sawyer, E. J., 2019, In: Breast Cancer Research. 21, 58.

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15 Citations (Scopus)

226 Downloads (Pure)

Frequency of pathogenic germline variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1 and TP53 in sporadic lobular breast cancer

Petridis, C., Arora, I., Shah, V., Moss, C. L., Mera, A., Clifford, A., Gillett, C., Pinder, S. E., Tomlinson, I., Roylance, R., Simpson, M. A. & Sawyer, E. J., Jul 2019, In: Cancer Epidemiology Biomarkers and Prevention. 28, 7, p. 1162-1168 7 p.

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22 Citations (Scopus)

118 Downloads (Pure)

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

Tziotzios, C., Petridis, C., Dand, N., Ainali, C., Saklatvala, J. R., Pullabhatla, V., Onoufriadis, A., Pramanik, R., Baudry, D., Lee, S. H., Wood, K., Liu, L., Seegobin, S., Michelotti, G. A., Lwin, S. M., Christou, E. A. A., Curtis, C. J., de Rinaldis, E., Saxena, A., Holmes, S., & 54 othersHarries, M., Palamaras, I., Cunningham, F., Parkins, G., Kaur, M., Farrant, P., McDonagh, A., Messenger, A., Jones, J., Jolliffe, V., Ali, I., Ardern-Jones, M., Mitchell, C., Burrows, N., Atkar, R., Banfield, C., Alexandroff, A., Champagne, C., Cooper, H. L., Vañó-Galván, S., Molina-Ruiz, A. M., Perez, N. O., Patel, G. K., Macbeth, A., Page, M., Bryden, A., Mowbray, M., Wahie, S., Armstrong, K., Cooke, N., Goodfield, M., Man, I., de Berker, D., Dunnill, G., Takwale, A., Rao, A., Siah, T-W., Sinclair, R., Wade, M. S., Dlova, N. C., Setterfield, J., Lewis, F., Bhargava, K., Kirkpatrick, N., Estivill, X., Stefanato, C. M., Flohr, C., Spector, T., Watt, F. M., Smith, C. H., Barker, J. N., Fenton, D. A., Simpson, M. A. & McGrath, J. A., 8 Mar 2019, In: Nature Communications. 10, 1, 9 p., 1150.

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70 Citations (Scopus)

125 Downloads (Pure)

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

Simpson, J. K., Martinez-Quiepo, M., Onoufriadis, A., Tso, S., Glass, E., Liu, L., Higashino, T., Scott, W., Tierney, C., Simpson, M. A., Desomchoke, R., Youssefian, L., SaeIdian, A. H., Vahidnezhad, H., Bisquera, A., Ravenscroft, J., Moss, C., O'Toole, E. A., Burrows, N., Leech, S., & 10 othersJones, E. A., Lim, D., Ilchyshyn, A., Goldstraw, N., Cork, M. J., Darne, S., Uitto, J., Martinez, A. E., Mellerio, J. E. & McGrath, J. A., 6 Jun 2019, (E-pub ahead of print) In: British Journal of Dermatology.

Research output: Contribution to journal › Article › peer-review

42 Citations (Scopus)

HLA-C*06:02 genotype is a predictive biomarker of biologic treatment response in psoriasis

Dand, N., Duckworth, M., Baudry, D., Russell, A., Curtis, C. J., Lee, S. H., Evans, I., Mason, K. J., Alsharqi, A., Becher, G., Burden, A. D., Goodwin, R. G., McKenna, K., Murphy, R., Perera, G. K., Rotarescu, R., Wahie, S., Wright, A., Reynolds, N. J., Warren, R. B., & 4 othersGriffiths, C. E. M., Smith, C. H., Simpson, M. A. & Barker, J. N., Jun 2019, In: Journal of Allergy and Clinical Immunology. 143, 6, p. 2120-2130

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95 Citations (Scopus)

140 Downloads (Pure)

Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis

Onoufriadis, A., ahmed, N., Besser, H., Guy, A., Liu, L., Marantzidis, A., Kesidou, E., Papanikolaou, M., Simpson, M. A., Mellerio, J., Lee, J. W. & McGrath, J. A., 16 Oct 2019, (Accepted/In press) In: Journal of Investigative Dermatology.

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Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL

Onoufriadis, A., Simpson, J. K., McDonald, C., Nguyen, T. T. M., Campeau, P. M., Simpson, M. A., Martinez, A. E. & McGrath, J. A., 18 Sept 2019, (E-pub ahead of print) In: Clinical and Experimental Dermatology.

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Sequencing of human genomes with nanopore technology

Simpson, M., 23 Apr 2019, In: Nature Communications.

Research output: Contribution to journal › Article › peer-review

Open Access

117 Citations (Scopus)

The ADAMTS13–VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension

Newnham, M., South, K., Bleda, M., Auger, W. R., Barberà, J. A., Bogaard, H., Bunclark, K., Cannon, J. E., Delcroix, M., Hadinnapola, C., Howard, L. S., Jenkins, D., Mayer, E., Ng, C., Rhodes, C. J., Screaton, N., Sheares, K., Simpson, M. A., Southwood, M., Su, L., & 12 othersTaboada, D., Traylor, M., Trembath, R. C., Villar, S. S., Wilkins, M. R., Wharton, J., Gräf, S., Pepke-Zaba, J., Laffan, M., Lane, D. A., Morrell, N. W. & Toshner, M., 1 Mar 2019, In: European Respiratory Journal. 53, 3, 1801805.

Research output: Contribution to journal › Article › peer-review

24 Citations (Scopus)

2018

A genome-wide association study for extremely high intelligence

Zabaneh, D., Krapohl, E., Gaspar, H. A., Curtis, C. J., Lee, S. H., Patel, H., Newhouse, S., Simpson, M. A., Putallaz, M., Lubinski, D., Plomin, R. & Breen, G., May 2018, In: Molecular Psychiatry. 23, 5, p. 1226–1232

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45 Citations (Scopus)

228 Downloads (Pure)

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Oláhová, M., Yoon, W. H., Thompson, K., Jangam, S., Fernandez, L., Davidson, J. M., Kyle, J. E., Grove, M. E., Fisk, D. G., Kohler, J. N., Holmes, M., Dries, A. M., Huang, Y., Zhao, C., Contrepois, K., Zappala, Z., Frésard, L., Waggott, D., Zink, E. M., Kim, Y-M., & 193 othersHeyman, H. M., Stratton, K. G., Webb-Robertson, B-J. M., Adams, D. R., Alejandro, M. E., Allard, P., Azamian, M. S., Bacino, C. A., Balasubramanyam, A., Barseghyan, H., Batzli, G. F., Beggs, A. H., Behnam, B., Bican, A., Bick, D. P., Birch, C. L., Bonner, D., Boone, B. E., Bostwick, B. L., Briere, L. C., Brown, D. M., Brush, M., Burke, E. A., Burrage, L. C., Chen, S., Clark, G. D., Coakley, T. R., Cogan, J. D., Cooper, C. M., Cope, H., Craigen, W. J., D’Souza, P., Davids, M., Dayal, J. G., Dell’Angelica, E. C., Dhar, S. U., Dillon, A., Dipple, K. M., Donnell-Fink, L. A., Dorrani, N., Dorset, D. C., Douine, E. D., Draper, D. D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Eskin, A., Esteves, C., Estwick, T., Ferreira, C., Fogel, B. L., Friedman, N. D., Gahl, W. A., Glanton, E., Godfrey, R. A., Goldstein, D. B., Gould, S. E., Gourdine, J-P. F., Groden, C. A., Gropman, A. L., Haendel, M., Hamid, R., Hanchard, N. A., Handley, L. H., Herzog, M. R., Holm, I. A., Hom, J., Howerton, E. M., Jacob, H. J., Jain, M., Jiang, Y., Johnston, J. M., Jones, A. L., Kohane, I. S., Krasnewich, D. M., Krieg, E. L., Krier, J. B., Lalani, S. R., Lau, C. C., Lazar, J., Lee, B. H., Lee, H., Levy, S. E., Lewis, R. A., Lincoln, S. A., Lipson, A., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Markello, T. C., Marom, R., Martínez-Agosto, J. A., Marwaha, S., May, T., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., Might, M., Moretti, P. M., Morimoto, M., Mulvihill, J. J., Murphy, J. L., Muzny, D. M., Nehrebecky, M. E., Nelson, S. F., Newberry, J. S., Newman, J. H., Nicholas, S. K., Novacic, D., Orange, J. S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Pena, L. D. M., Phillips III, J. A., Posey, J. E., Postlethwait, J. H., Potocki, L., Pusey, B. N., Reuter, C. M., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Sampson, J. B., Samson, S. L., Schoch, K., Schroeder, M. C., Scott, D. A., Sharma, P., Shashi, V., Silverman, E. K., Sinsheimer, J. S., Smith, K. S., Spillmann, R. C., Splinter, K., Stoler, J. M., Stong, N., Sullivan, J. A., Sweetser, D. A., Tifft, C. J., Toro, C., Tran, A. A., Urv, T. K., Valivullah, Z. M., Vilain, E., Vogel, T. P., Wahl, C. E., Walley, N. M., Walsh, C. A., Ward, P. A., Waters, K. M., Westerfield, M., Wise, A. L., Wolfe, L. A., Worthey, E. A., Yamamoto, S., Yang, Y., Yu, G., Zastrow, D. B., Zheng, A., Snyder, M., Merker, J. D., Montgomery, S. B., Fisher, P. G., Feichtinger, R. G., Mayr, J. A., Hall, J., Barbosa, I. A., Simpson, M. A., Deshpande, C., Koeller, D. M., Metz, T. O., Morris, A. A., Schelley, S., Cowan, T., Friederich, M. W., McFarland, R., Van Hove, J. L. K., Enns, G. M., Ashley, E. A., Wangler, M. F., Taylor, R. W., Bellen, H. J., Bernstein, J. A. & Wheeler, M. T., 22 Feb 2018, (E-pub ahead of print) In: American Journal of Human Genetics.

Research output: Contribution to journal › Article › peer-review

Open Access

52 Citations (Scopus)

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome

Tester, D. J., Wong, L. C. H., Chanana, P., Jaye, A., Evans, J. M., FitzPatrick, D. R., Evans, M. J., Fleming, P., Jeffrey, I., Cohen, M. C., Tfelt-Hansen, J., Simpson, M. A., Behr, E. R. & Ackerman, M. J., 12 Mar 2018, (E-pub ahead of print) In: Journal of the American College of Cardiology.

Research output: Contribution to journal › Article › peer-review

49 Citations (Scopus)

De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity

Ladds, E., Whitney, A., Dombi, E., Hofer, M., Anand, G., Harrison, V., Fratter, C., Carver, J., Barbosa, I. A., Simpson, M., Jayawant, S. & Poulton, J., 1 Aug 2018, In: Neurology: Genetics. 4, 4, e258.

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26 Citations (Scopus)

De novo mutations implicate novel genes in systemic lupus erythematosus

Pullabhatla, V., Roberts, A. L., Lewis, M. J., Mauro, D., Morris, D. L., Odhams, C. A., Tombleson, P., Liljedahl, U., Vyse, S., Simpson, M. A., Sauer, S., de Rinaldis, E., Syvänen, A. C. & Vyse, T. J., 1 Feb 2018, In: Human Molecular Genetics. 27, 3, p. 421-429 9 p.

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Open Access

37 Citations (Scopus)

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

Männikkö, R., Wong, L., Tester, D. J., Thor, M. G., Sud, R., Kullmann, D. M., Sweeney, M. G., Leu, C., Sisodiya, S. M., FitzPatrick, D. R., Evans, M. J., Jeffrey, I. J. M., Tfelt-Hansen, J., Cohen, M. C., Fleming, P. J., Jaye, A., Simpson, M. A., Ackerman, M. J., Hanna, M. G., Behr, E. R., & 1 othersMatthews, E., 5 Apr 2018, (E-pub ahead of print) In: Lancet.

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55 Citations (Scopus)

Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis

Onoufriadis, A., Stone, K., Katsiamides, A., Amar, A., Omar, Y., de Lange, K. M., Taylor, K., Barrett, J. C., Pollok, R., Hayee, BH., Mansfield, J. C., Sanderson, J. D., Simpson, M. A., Mathew, C. G. & Prescott, N. J., Mar 2018, In: Journal of Crohn's & colitis. 12, 3, p. 321–326

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12 Citations (Scopus)

168 Downloads (Pure)

Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome

Tester, D. J., Wong, L. C. H., Chanana, P., Gray, B., Jaye, A., Evans, J. M., Evans, M., Fleming, P., Jeffrey, I., Cohen, M., Tfelt-Hansen, J., Simpson, M. A., Behr, E. R. & Ackerman, M. J., 26 Sept 2018, (E-pub ahead of print) In: Journal of Pediatrics.

Research output: Contribution to journal › Article › peer-review

15 Citations (Scopus)

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne

The Acne Genetic Study Group, Petridis, C., Navarini, A. A., Dand, N., Saklatvala, J., Baudry, D., Duckworth, M., Allen, M. H., Curtis, C. J., Lee, S. H., Burden, A. D., Layton, A., Bataille, V., Pink, A. E., Alexandroff, A., Anstey, A., Azad, J., Aziz, O., Burrows, N., Butt, A., & 37 othersCartwright, P., Chapman, A., Clayton, T. H., Cliff, S., Cutler, T., Daly, B., Darvay, A., DeGiovanni, C., Downs, A., Dwyer, C., English, J., Ferguson, A., Fleming, C., Fraser-Andrews, E., Goodfield, M., Grattan, C. E., Hempel, H., Hood, S., Hughes, B., Ladoyanni, E., Lyon, C., Mahmud, A., Malik, M., Mallon, E., Meggitt, S., Messenger, A., Moosa, Y., Munn, S., Ormerod, A., Rallan, D., Ross, J., McGrath, J. A., Barker, J. N. W. N., Smith, C. H., Spector, T. D., Barker, J. N. & Simpson, M. A., 12 Dec 2018, In: Nature Communications. 9, 1, 5075.

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Open Access

32 Citations (Scopus)

Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series

Shanks, G. W., Tester, D. J., Ackerman, J. P., Simpson, M. A., Behr, E. R., White, S. M. & Ackerman, M. J., 19 Jun 2018, In: Circulation. 137, 25, p. 2705-2715 11 p.

Research output: Contribution to journal › Article › peer-review

31 Citations (Scopus)

MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours

Garcia-dios, D. A., Levi, D., Shah, V., Gillett, C., Simpson, M. A., Hanby, A., Tomlinson, I. & Sawyer, E. J., 9 Jan 2018, In: BJC: British Journal of Cancer. 118, 2, p. 277-284

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27 Citations (Scopus)

228 Downloads (Pure)

Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults

Charif, M., Nasca, A., Thompson, K., Gerber, S., Makowski, C., Mazaheri, N., Bris, C., Goudenège, D., Legati, A., Maroofian, R., Shariati, G., Lamantea, E., Hopton, S., Ardissone, A., Moroni, I., Giannotta, M., Siegel, C., Strom, T. M., Prokisch, H., Vignal-Clermont, C., & 22 othersDerrien, S., Zanlonghi, X., Kaplan, J., Hamel, C. P., Leruez, S., Procaccio, V., Bonneau, D., Reynier, P., White, F. E., Hardy, S. A., Barbosa, I. A., Simpson, M. A., Vara, R., Trujillo, Y. P., Galehdari, H., Deshpande, C., Haack, T. B., Rozet, J. M., Taylor, R. W., Ghezzi, D., Amati-Bonneau, P. & Lenaers, G., 1 Jan 2018, In: JAMA Neurology. 75, 1, p. 105-113 9 p.

Research output: Contribution to journal › Article › peer-review

24 Citations (Scopus)

Noncardiac genetic predisposition in sudden infant death syndrome

Gray, B., Tester, D. J., Wong, L. C., Chanana, P., Jaye, A., Evans, J. M., Baruteau, A. E., Evans, M., Fleming, P., Jeffrey, I., Cohen, M., Tfelt-Hansen, J., Simpson, M. A., Ackerman, M. J. & Behr, E. R., 24 Aug 2018, (E-pub ahead of print) In: GENETICS IN MEDICINE.

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair

Maruthappu, T., McGinty, L. A., Blaydon, D. C., Fell, B., Määttä, A., Duit, R., Hawkins, T., Braun, K. M., Simpson, M. A., O'Toole, E. A. & Kelsell, D. P., 1 Apr 2018, In: Journal of Investigative Dermatology. 138, 4, p. 984-987 4 p.

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Open Access

9 Citations (Scopus)

Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients

Saklatvala, J. R., Dand, N. & Simpson, M. A., May 2018, In: Human Mutation. 39, 5, p. 643-652

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5 Citations (Scopus)

286 Downloads (Pure)

WNT10A mutation results in severe tooth agenesis in a family of three sisters

Abid, M. F., Simpson, M. A., Barbosa, I. A., Seppala, M., Irving, M., Sharpe, P. T. & Cobourne, M. T., Aug 2018, In: Orthodontics and Craniofacial Research. 21, 3, p. 153-159 7 p.

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11 Citations (Scopus)

298 Downloads (Pure)

2017

Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia

Takeichi, T., Torrelo, A., Lee, J. Y. W., Ohno, Y., Lozano, M. L., Kihara, A., Liu, L., Yasuda, Y., Ishikawa, J., Murase, T., Rodrigo, A. B., Fernández-Crehuet, P., Toi, Y., Mellerio, J., Rivera, J., Vicente, V., Kelsell, D. P., Nishimura, Y., Okuno, Y., Kojima, D., & 6 othersOgawa, Y., Sugiura, K., Simpson, M. A., McLean, W. H. I., Akiyama, M. & McGrath, J. A., 1 Nov 2017, In: Journal of Investigative Dermatology. 137, 11, p. 2344-2353

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49 Citations (Scopus)

129 Downloads (Pure)

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

Hsu, C. K., Romano, M. T., Nanda, A., Rashidghamat, E., Lee, J. Y. W., Huang, H. Y., Songsantiphap, C., Lee, J. Y. Y., Al-Ajmi, H., Betz, R. C., Simpson, M. A., McGrath, J. A. & Tziotzios, C., 1 May 2017, In: Journal of Investigative Dermatology. 137, 5, p. 1176-1179 4 p.

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19 Citations (Scopus)

335 Downloads (Pure)

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

Dand, N., Mucha, S., Tsoi, L. C., Mahil, S. K., Stuart, P. E., Arnold, A., Baurecht, H., Burden, A. D., Duffin, K. C., Chandran, V., Curtis, C. J., Das, S., Ellinghaus, D., Ellinghaus, E., Enerback, C., Esko, T., Gladman, D. D., Griffiths, C. E. M., Gudjonsson, J. E., Hoffman, P., & 34 othersHomuth, G., Hüffmeier, U., Krueger, G. G., Laudes, M., Lee, S. H., Lieb, W., Lim, H. W., Löhr, S., Mrowietz, U., Müller-Nurayid, M., Nöthen, M., Peters, A., Rahman, P., Reis, A., Reynolds, N. J., Rodriguez, E., Schmidt, C. O., Spain, S. L., Strauch, K., Tejasvi, T., Voorhees, J. J., Warren, R. B., Weichenthal, M., Weidinger, S., Zawistowski, M., Nair, R. P., Capon, F., Smith, C. H., Trembath, R. C., Abecasis, G. R., Elder, J. T., Franke, A., Simpson, M. A. & Barker, J. N., 1 Nov 2017, In: Human Molecular Genetics. 26, 21, p. 4301-4313

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34 Citations (Scopus)

125 Downloads (Pure)

Fine mapping genetic associations between the HLA region and extremely high intelligence

Zabaneh, D., Krapohl, E., Simpson, M. A., Miller, M. B., Iacono, W. G., McGue, M., Putallaz, M., Lubinski, D., Plomin, R. & Breen, G., 24 Jan 2017, In: Scientific Reports. 7, p. 41182 8 p.

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Open Access

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1 Citation (Scopus)

212 Downloads (Pure)

Genetic architecture of acne vulgaris

Lichtenberger, R., Simpson, M. A., Smith, C., Barker, J. & Navarini, A. A., 24 Sept 2017, (E-pub ahead of print) In: Journal of The European Academy of Dermatology and Venereology.

Research output: Contribution to journal › Article › peer-review

33 Citations (Scopus)

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management

Bierzynska, A., McCarthy, H. J., Soderquest, K., Sen, E. S., Colby, E., Ding, W. Y., Nabhan, M. M., Kerecuk, L., Hegde, S., Hughes, D., Marks, S., Feather, S., Jones, C., Webb, N. J. A., Ognjanovic, M., Christian, M., Gilbert, R. D., Sinha, M. D., Lord, G. M., Simpson, M., & 3 othersKoziell, A. B., Welsh, G. I. & Saleem, M. A., 20 Jan 2017, In: Kidney International.

Research output: Contribution to journal › Article › peer-review

185 Citations (Scopus)

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

Lee, J. Y. W., Hsu, C. K., Michael, M., Nanda, A., Liu, L., McMillan, J. R., Pourreyron, C., Takeichi, T., Tolar, J., Reid, E., Hayday, T., Blumen, S. C., Abu-Mouch, S., Straussberg, R., Basel-Vanagaite, L., Barhum, Y., Zouabi, Y., Al-Ajmi, H., Huang, H. Y., Lin, T. C., & 6 othersAkiyama, M., Lee, J. Y. Y., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A., 2 Feb 2017, In: American Journal of Human Genetics. 100, 2, p. 364-370

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30 Citations (Scopus)

173 Downloads (Pure)

Michael Simpson

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