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Clair A. Francomano

Clair A. Francomano

D-Index & Metrics

Genetics

D-Index
70
Citations
21079
World Ranking
2254
National Ranking
1013

Overview

Clair A. Francomano is affiliated with Indiana University in the United States. Their research primarily spans the fields of Medicine and Biochemistry, Genetics, and Molecular Biology, with a focus on Genetics, Surgery, and Rheumatology as key subfields.

Their scientific work concentrates on connective tissue disorders, dermatological and skeletal disorders, and related genetic conditions. The main topics covered include:

  • Connective tissue disorders research
  • Dermatological and Skeletal Disorders
  • Dupuytren's Contracture and Treatments
  • Shoulder Injury and Treatment
  • Spinal Fractures and Fixation Techniques
  • Cardiovascular Syncope and Autonomic Disorders
  • Neurogenetic and Muscular Disorders Research

Francomano's publications appear frequently in specialized medical genetics and clinical journals. The most common venues for their work are:

  • American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • Molecular Genetics and Metabolism
  • Genetics in Medicine Open
  • Neurosurgical Review
  • Frontiers in Medicine

Recent significant papers by Francomano include:

  • "The Ehlers-Danlos syndromes", 2020, Nature Reviews Disease Primers
  • "Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome", 2020, Autonomic Neuroscience
  • "Patients with Ehlers-Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey", 2021, American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • "Clinician-associated traumatization from difficult medical encounters: Results from a qualitative interview study on the Ehlers-Danlos Syndromes", 2023, SSM - Qualitative Research in Health
  • "Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome", 2023, Genetics in Medicine Open

The frequent coauthors collaborating with Francomano include:

  • Jane R. Schubart
  • Rebecca Bascom
  • Colin Halverson
  • Alan J. Hakim
  • Fraser C. Henderson

Best Publications

  • Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

    Harry C. Dietz;Carry R. Cutting;Reed E. Pyeritz;Cheryl L. Maslen

  • The 2017 international classification of the Ehlers-Danlos syndromes

    Fransiska Malfait;Clair Francomano;Peter H Byers;John Belmont

  • Achondroplasia is defined by recurrent G380R mutations of FGFR3.

    G A Bellus;T W Hefferon;R I Ortiz de Luna;J T Hecht

  • Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome

    William F. Schwindinger;Clair A. Francomano;Michael A. Levine

  • A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

    Gary A. Bellus;Iain McIntosh;Iain McIntosh;E. Anne Smith;Arthur S. Aylsworth

  • The skipping of constitutive exons in vivo induced by nonsense mutations

    Harry C. Dietz;David Valle;Clair A. Francomano;Raymond J. Kendzior

  • The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.

    Zoltan Vajo;Clair A. Francomano;Douglas J. Wilkin

  • A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

    M Muenke;K W Gripp;D M McDonald-McGinn;K Gaudenz

  • Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.

    Jacqueline T. Hecht;Laura D. Nelson;Eric Crowder;Yang Wang

  • Career development for women in academic medicine: Multiple interventions in a department of medicine.

    Linda P. Fried;Clair A. Francomano;Susan M. MacDonald;Elizabeth M. Wagner

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

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

  • Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

    Harry C. Dietz;Iain McIntosh;Lynn Y. Sakai;Lynn Y. Sakai;Glen M. Corson

  • Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

    Victor L. Ruiz-Perez;Susan E. Ide;Susan E. Ide;Tim M. Strom;Bettina Lorenz

  • A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1

    Jennifer J. Johnston;Richard Ian Kelley;Richard Ian Kelley;Thomas O. Crawford;D. Holmes Morton

  • Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

    Gary A. Bellus;Karin Gaudenz;Elaine H. Zackai;Lome A. Clarke

  • A type X collagen mutation causes schmid metaphyseal chondrodysplasia

    Matthew L. Warman;Margaret Abbott;Suneel S. Apte;Tim Hefferon

  • Association Study of Transforming Growth Factor Alpha (TGFα) TaqI Polymorphismand Oral Clefts: Indication of Gene-Environment Interaction in a Population-based Sample of Infants with Birth Defects

    Shih Jen Hwang;Terri H. Beaty;Susan R. Panny;Nancy A. Street

  • Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue

    Thomas H. Milhorat;Paolo A. Bolognese;M. Misao Nishikawa;Nazli B. McDonnell

  • Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

    G Nijbroek;S Sood;I McIntosh;C A Francomano

  • Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome

    Douglas J. Wilkin;Jinny K. Szabo;Rhoda Cameron;Shirley Henderson

Frequent Co-Authors

Reed E. Pyeritz
Reed E. Pyeritz University of Pennsylvania
Iain McIntosh
Iain McIntosh Johns Hopkins University
Harry C. Dietz
Harry C. Dietz Johns Hopkins University School of Medicine
Mihael H. Polymeropoulos
Mihael H. Polymeropoulos Vanda Pharmaceuticals (United States)
Ilkka Kaitila
Ilkka Kaitila University of Helsinki
Jacqueline T. Hecht
Jacqueline T. Hecht The University of Texas Health Science Center at Houston
Garry R. Cutting
Garry R. Cutting Johns Hopkins University School of Medicine
Victor A. McKusick
Victor A. McKusick Johns Hopkins University School of Medicine
Matthew L. Warman
Matthew L. Warman Boston Children's Hospital
Leslie G. Biesecker
Leslie G. Biesecker National Institutes of Health

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