Michael A. Simpson

Overview

Best Publications

• Assessment of Minimal Residual Disease in Standard-Risk AML.

  Adam Ivey;Robert Kerrin Hills;Michael A. Simpson;Jelena V. Jovanovic

  850
  Citations

• Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

  Pia Ostergaard;Michael A Simpson;Fiona C Connell;Colin G Steward

  582
  Citations

• Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis

  Alexandros Onoufriadis;Michael A. Simpson;Andrew E. Pink;Paola Di Meglio

  569
  Citations

• Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

  Michael A Simpson;Harold Cross;Christos Proukakis;David A Priestman

  447
  Citations

• Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

  B N Smith;N Ticozzi;C Fallini;A S Gkazi

  427
  Citations

• Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy

  Mark Norman;Michael Simpson;Jens Mogensen;Anthony Shaw

  366
  Citations

• Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

  Michael A Simpson;Melita D Irving;Melita D Irving;Esra Asilmaz;Mary J Gray

  345
  Citations

• Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

  Liat Samuelov;Ofer Sarig;Robert M Harmon;Debora Rapaport

  327
  Citations

• Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

  Karin Tuschl;Esther Meyer;Leonardo E Valdivia;Ningning Zhao

  321
  Citations

• Deficiency of terminal ADP‐ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

  Reza Sharifi;Rosa Morra;C Denise Appel;Michael Tallis

  320
  Citations

• Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

  Elisavet Fotiou;Silvia Martin-Almedina;Michael A. Simpson;Shin Lin

  294
  Citations

• Mutations in TJP2 cause progressive cholestatic liver disease

  Melissa Sambrotta;Sandra Strautnieks;Efterpi Papouli;Peter Rushton

  286
  Citations

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

  Agnieszka Bierzynska;Hugh J. McCarthy;Katrina Soderquest;Ethan S. Sen

  281
  Citations

• Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

  Thomas Cullup;Ay Lin Kho;Carlo Dionisi-Vici;Birgit Brandmeier

  273
  Citations

• De novo mutations in MLL cause Wiedemann-Steiner syndrome.

  Wendy D. Jones;Dimitra Dafou;Meriel McEntagart;Wesley J. Woollard

  267
  Citations

• 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

  Damian Smedley;Katherine R. Smith;Antonio Martin

  266
  Citations

• Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

  Silvia Cappello;Mary J Gray;Caroline Badouel;Caroline Badouel;Simona Lange

  259
  Citations

• Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

  Karen A. Hunt;Vanisha Mistry;Nicholas A. Bockett;Tariq Ahmad

  239
  Citations

• Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

  Maria K. Tsaousidou;Karim Ouahchi;Tom T. Warner;Yi Yang

  229
  Citations

• Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

  M. A. Simpson;R. Hsu;L. S. Keir;J. Hao

  215
  Citations