Michael A. Patton

Michael A. Patton 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 Michael A. Patton sits on this spectrum.

Michael A. Patton 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 Michael A. Patton 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

• 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