Andrew H. Crosby

Overview

Best Publications

• Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

  Marco Tartaglia;Marco Tartaglia;Ernest L. Mehler;Rosalie Goldberg;Giuseppe Zampino

  1904
  Citations

• Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

  Godfrina McKoy;Nikos Protonotarios;Andrew Crosby;Adalena Tsatsopoulou

  1283
  Citations

• PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

  Marco Tartaglia;Marco Tartaglia;Kamini Kalidas;Adam Shaw;Xiaoling Song

  831
  Citations

• Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

  Sara Salinas;Christos Proukakis;Andrew Crosby;Thomas T Warner

  598
  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

• Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

  Christian Windpassinger;Michaela Auer-Grumbach;Joy Irobi;Heema Patel

  445
  Citations

• Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy

  Mark Norman;Michael Simpson;Jens Mogensen;Anthony Shaw

  366
  Citations

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

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

  320
  Citations

• SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

  Heema Patel;Harold Cross;Christos Proukakis;Ruth Hershberger

  317
  Citations

• The natural history of Noonan syndrome: a long-term follow-up study

  Adam C Shaw;Kamini Kalidas;Andrew H Crosby;Steve Jeffery

  307
  Citations

• Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

  Michaela Auer-Grumbach;Andrea Olschewski;Lea Papić;Hannie Kremer

  300
  Citations

• Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

  Samuel Shribman;Evan Reid;Andrew H Crosby;Henry Houlden

  249
  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

• Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

  Michael A. Simpson;Harold Cross;Christos Proukakis;Anna Pryde

  211
  Citations

• Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

  Katherine J. Dick;Matthias Eckhardt;Coro Paisán-Ruiz;Aisha Alkhayat Alshehhi

  210
  Citations

• Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

  Alexander Pearlman;Johnny Loke;Cedric Le Caignec;Stefan John White

  201
  Citations

• The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

  Francesca D Ciccarelli;Christos Proukakis;Heema Patel;Harold Cross

  177
  Citations

• Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia

  Andrew H. Crosby;Christos Proukakis

  171
  Citations

• A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.

  Vafa Alakbarzade;Abdul Hameed;Debra Q Y Quek;Barry A Chioza

  150
  Citations