1. Pathogenic variants in HTRA2 cause an early‐onset mitochondrial syndrome associated with 3‐methylglutaconic aciduria. Issue 1 (30th September 2016) Authors: Oláhová, Monika; Thompson, Kyle; Hardy, Steven A.; Barbosa, Inês A.; Besse, Arnaud; Anagnostou, Maria‐Eleni; White, Kathryn; Davey, Tracey; Simpson, Michael A.; Champion, Michael; Enns, Greg; Schelley, Susan; Lightowlers, Robert N.; Chrzanowska‐Lightowlers, Zofia M. A.; McFarland, Robert; Deshpan... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 1(2017) Page Start: 121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2). (28th March 2019) Authors: Ghurye, Rohit R.; Sundaram, Kruthika; Smith, Frances; Clark, Barnaby; Simpson, Michael A.; Fairbanks, Lynette; Adhya, Zoe; Mufti, Ghulam J.; Marsh, Judith C. W.; Ibrahim, Mohammad A. A. Journal: British journal of haematology Issue: Volume 186:Number 3(2019) Page Start: e60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. (29th May 2020) Authors: Tang, Shan; Addis, Laura; Smith, Anna; Topp, Simon D.; Pendziwiat, Manuela; Mei, Davide; Parker, Alasdair; Agrawal, Shakti; Hughes, Elaine; Lascelles, Karine; Williams, Ruth E.; Fallon, Penny; Robinson, Robert; Cross, Helen J.; Hedderly, Tammy; Eltze, Christin; Kerr, Tim; Desurkar, Archana; Hussa... Other Names: Craiu Dana investigator.; Davila Carol investigator.; Obregia Alexandru investigator.; De Jonghe Peter investigator.; Lehesjoki Anna‐Elina investigator.; Muhle Hiltrud investigator.; Neubauer Bernd investigator.; Selmer Kaja investigator.; Stephani Ulrich investigator.; Sterbova Katalin investiga... Journal: Epilepsia Issue: Volume 61:issue 5(2020) Page Start: 995 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Registration and the G.M.C. Issue 5805 (8th April 1972) Authors: Simpson, Michael A. Journal: BMJ Issue: Volume 2:Issue 5805(1972) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG‐Associated Hereditary Spastic Paraplegia. Issue 11 (30th August 2016) Authors: Harlalka, Gaurav V.; McEntagart, Meriel E.; Gupta, Neerja; Skrzypiec, Anna E.; Mucha, Mariusz W.; Chioza, Barry A.; Simpson, Michael A.; Sreekantan‐Nair, Ajith; Pereira, Anthony; Günther, Sven; Jahic, Amir; Modarres, Hamid; Moore‐Barton, Heather; Trembath, Richard C.; Kabra, Madhulika; Baple, Emm... Journal: Human mutation Issue: Volume 37:Issue 11(2016) Page Start: 1157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Student Research. Issue 5621 (28th September 1968) Authors: Simpson, Michael A. Journal: BMJ Issue: Volume 3:Issue 5621(1968) Page Start: 802 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Applying for Junior Hospital Posts. Issue 5853 (10th March 1973) Authors: Simpson, Michael A. Journal: BMJ Issue: Volume 1:Issue 5853(1973) Page Start: 616 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome. Issue 2 (February 2016) Authors: Takeichi, Takuya; Sugiura, Kazumitsu; Tso, Simon; Simpson, Michael A.; McGrath, John A.; Akiyama, Masashi Journal: Journal of dermatological science Issue: Volume 81:Issue 2(2016:Feb.) Page Start: 134 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death. (24th December 2021) Authors: Neves, Raquel; Tester, David J.; Simpson, Michael A.; Behr, Elijah R.; Ackerman, Michael J.; Giudicessi, John R. Journal: Circulation Issue: Volume 15:Number 1(2022) Page Start: e003497 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Blaschko‐linear lichen planus: Clinicopathological and genetic analysis. Issue 11 (12th August 2020) Authors: Chuamanochan, Mati; Onoufriadis, Alexandros; Farnood, Shahir; Hsu, Chao‐Kai; Simpson, Michael A.; Mahanupab, Pongsak; Tovanabutra, Napatra; Chiewchanvit, Siri; McGrath, John A. Journal: Journal of dermatology Issue: Volume 47:Issue 11(2020) Page Start: e384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗