Katherine A. Rauen

Overview

Best Publications

• The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation

  William E Tidyman;Katherine A Rauen

  977
  Citations

• Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

  Pablo Rodriguez-Viciana;Osamu Tetsu;William E. Tidyman;Anne L. Estep

  683
  Citations

• Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

  E Legius;L Messiaen;P Wolkenstein;P Pancza

  468
  Citations

• Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

  Arkadiusz Piotrowski;Arkadiusz Piotrowski;Jing Xie;Ying F Liu;Andrzej B Poplawski

  278
  Citations

• Expression of the Coxsackie Adenovirus Receptor in Normal Prostate and in Primary and Metastatic Prostate Carcinoma: Potential Relevance to Gene Therapy

  Katherine A Rauen;Daniel Sudilovsky;Jason L Le;Karen L Chew

  242
  Citations

• Advocacy groups as research organizations: the PXE International example.

  Sharon F. Terry;Patrick F. Terry;Katherine A. Rauen;Jouni Uitto

  211
  Citations

• Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

  Mary E lla M Pierpont;Pilar L. Magoulas;Saleh Adi;Maria I nes Kavamura

  197
  Citations

• Autism traits in the RASopathies

  Brigid Adviento;Iris L Corbin;Felicia Widjaja;Guillaume Desachy

  189
  Citations

• HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

  Anne L. Estep;William E. Tidyman;Michael A. Teitell;Philip D. Cotter;Philip D. Cotter

  181
  Citations

• Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.

  David Dimmock;Sara Caylor;Bryce Waldman;Wendy Benson

  179
  Citations

• ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

  Bruce D Gelb;Hélène Cavé;Mitchell W Dillon;Karen W Gripp

  179
  Citations

• Integrin αv and coxsackie adenovirus receptor expression in clinical bladder cancer

  Markus D Sachs;Markus D Sachs;Katherine A Rauen;Meera Ramamurthy;Jennifer L Dodson

  164
  Citations

• Disruption of 3D tissue integrity facilitates adenovirus infection by deregulating the coxsackievirus and adenovirus receptor.

  M. Anders;R. Hansen;R. X. Ding;Katherine A Rauen

  151
  Citations

• Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

  Giuseppe Zampino;Francesca Pantaleoni;Claudio Carta;Gilda Cobellis

  149
  Citations

• Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.

  William E. Tidyman;Katherine A. Rauen

  140
  Citations

• HRAS and the Costello syndrome

  Katherine A Rauen

  139
  Citations

• Pathogenetics of the RASopathies

  William E. Tidyman;Katherine A. Rauen

  138
  Citations

• Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

  Angela E. Lin;Mark E. Alexander;Steven D. Colan;Bronwyn Kerr

  136
  Citations

• Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

  Anne L. Estep;Chana Palmer;Frank McCormick;Katherine A. Rauen

  128
  Citations

• Cancer Targets in the Ras Pathway

  P. Rodriguez-Viciana;O. Tetsu;K. Oda;J. Okada

  126
  Citations