Helen Stewart

Overview

Best Publications

• Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

  Asmae Smahi;G. Courtois;P. Vabres;S. Yamaoka

  949
  Citations

• Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

  Andrew J Sharp;Sierra Hansen;Rebecca R Selzer;Ze Cheng

  713
  Citations

• Evidence for 28 genetic disorders discovered by combining healthcare and research data

  J Kaplanis;K E Samocha;L Wiel;Z Zhang

  473
  Citations

• Three markers of adult non-myelin-forming Schwann cells, 217c(Ran-1), A5E3 and GFAP: development and regulation by neuron-Schwann cell interactions

  K. R. Jessen;L. Morgan;H. J. S. Stewart;R. Mirsky

  351
  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

• Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

  B W M van Bon;H C Mefford;B Menten;D A Koolen

  314
  Citations

• Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

  F.D. Hannes;A.J. Sharp;H.C. Mefford;T. de Ravel

  299
  Citations

• Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

  Hilary C. Martin;Grace E. Kim;Alistair T. Pagnamenta;Alistair T. Pagnamenta;Yoshiko Murakami

  289
  Citations

• Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

  Beverley H Anderson;Paul R Kasher;Josephine Mayer;Marcin Szynkiewicz

  289
  Citations

• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

  Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  274
  Citations

• GAP-43 is expressed by nonmyelin-forming Schwann cells of the peripheral nervous system.

  R. Curtis;H. J. S. Stewart;S. M. Hall;G. P. Wilkin

  250
  Citations

• Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

  D. A. Koolen;A. J. Sharp;A. J. Sharp;J. A. Hurst;H. V. Firth

  250
  Citations

• GTF2IRD1 in Craniofacial Development of Humans and Mice

  May Tassabehji;Peter Hammond;Annette Karmiloff-Smith;Pamela Thompson

  248
  Citations

• Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

  Gijs W E Santen;Emmelien Aten;Anneke T. Vulto-van Silfhout;Caroline Pottinger

  237
  Citations

• Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

  Karen M Lower;Karen M Lower;Gillian Turner;Bronwyn A Kerr;Katherine D Mathews

  234
  Citations

• Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

  Margaret J McMillin;Anita E Beck;Anita E Beck;Jessica X Chong;Kathryn M Shively

  206
  Citations

• Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

  Jennifer J Johnston;Jasper J van der Smagt;Jill A Rosenfeld;Alistair T Pagnamenta

  189
  Citations

• Galectin-1 Induces Skeletal Muscle Differentiation in Human Fetal Mesenchymal Stem Cells and Increases Muscle Regeneration

  Jerry Chan;Keelin O'Donoghue;Manuela Gavina;Yvan Torrente

  177
  Citations

• Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

  Sarah E. Flanagan;Elisa De Franco;Hana Lango Allen;Michele Zerah

  165
  Citations

• Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

  Siddharth Banka;Siddharth Banka;Damien Lederer;V. Benoit;E. Jenkins

  146
  Citations