Andrew H. Crosby

Andrew H. Crosby publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Andrew H. Crosby sits on this spectrum.

Andrew H. Crosby D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Andrew H. Crosby sits on this spectrum.

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