Michael A. Patton

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

• 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

• 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 mutations in the gene encoding noggin affect human joint morphogenesis.

  Yaoqin Gong;Deborah Krakow;Deborah Krakow;Jose Marcelino;Douglas Wilkin

  390
  Citations

• Mapping a gene for Noonan syndrome to the long arm of chromosome 12

  Jamieson Cr;van der Burgt I;Brady Af;van Reen M

  363
  Citations

• A restricted spectrum of NRAS mutations causes Noonan syndrome

  Ion C. Cirstea;Kerstin Kutsche;Radovan Dvorsky;Lothar Gremer

  354
  Citations

• Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

  Ali R. Afzal;Anna Rajab;Christiane D. Fenske;Michael Oldridge

  351
  Citations

• The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

  Claire Braybrook;Kit Doudney;Ana Carolina B. Marçano;Alfred Arnason

  348
  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

• The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

  Patrizia D'Adamo;Lucia Fassone;Agi Gedeon;Emiel A.M. Janssen

  300
  Citations

• 3D analysis of facial morphology

  Peter Hammond;Tim J. Hutton;Judith E. Allanson;Linda E. Campbell

  300
  Citations

• Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.

  May Tassabehji;Andrew P. Read;Valerie E. Newton;Michael Patton

  284
  Citations

• Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

  Ian M. Campbell;Bo Yuan;Caroline Robberecht;Rolph P. Pfundt

  274
  Citations

• Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients.

  Michael Burch;Michael Sharland;Elliot Shinebourne;Gillian Smith

  256
  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

• Clinical features of boys with fragile X premutations and intermediate alleles.

  Monica Aziz;Eleni Stathopulu;Maria Callias;Catherine Taylor

  208
  Citations