Christine M. Eng

Overview

Best Publications

• Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.

  Christine M. Eng;Nathalie Guffon;William R. Wilcox;Dominique P. Germain

  2188
  Citations

• Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

  Yaping Yang;Donna M. Muzny;Jeffrey G. Reid;Matthew N. Bainbridge

  2146
  Citations

• Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics

  Sarah S. Kalia;Kathy Adelman;Sherri J. Bale;Wendy K. Chung

  2006
  Citations

• Chromosomal microarray versus karyotyping for prenatal diagnosis

  Ronald J. Wapner;Christa Lese Martin;Brynn Levy;Blake C. Ballif

  1597
  Citations

• Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

  Yaping Yang;Donna M. Muzny;Fan Xia;Zhiyv Niu

  1460
  Citations

• A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

  Joseph Muenzer;James E Wraith;Michael Beck;Roberto Giugliani

  697
  Citations

• Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

  Jennifer E. Posey;Tamar Harel;Pengfei Liu;Jill A. Rosenfeld

  660
  Citations

• Females with Fabry disease frequently have major organ involvement : Lessons from the Fabry Registry

  William R. Wilcox;William R. Wilcox;João Paulo Oliveira;Robert J. Hopkin;Alberto Ortiz

  599
  Citations

• Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.

  Shoichiro Nakao;Chihaya Kodama;Chihaya Kodama;Toshihiro Takenaka;Toshihiro Takenaka;Akihiro Tanaka;Akihiro Tanaka

  569
  Citations

• Fabry disease revisited: Management and treatment recommendations for adult patients

  Alberto Ortiz;Dominique P. Germain;Robert J. Desnick;Juan Politei

  538
  Citations

• Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

  Christine M Eng;Dominique P Germain;Maryam Banikazemi;David G Warnock

  530
  Citations

• An atypical variant of Fabry's disease with manifestations confined to the myocardium.

  von Scheidt W;Eng Cm;Fitzmaurice Tf;Erdmann E

  500
  Citations

• A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies.

  Christine M. Eng;Maryam Banikazemi;Ronald E. Gordon;Martin Goldman

  498
  Citations

• SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

  Pamela Feliciano;Amy M. Daniels;LeeAnne Green Snyder;Amy Beaumont

  462
  Citations

• Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

  C. M. Eng;J. Fletcher;W. R. Wilcox;S. Waldek

  459
  Citations

• Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

  D. Williams Parsons;Angshumoy Roy;Yaping Yang;Tao Wang

  454
  Citations

• Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy.

  Andrea Frustaci;Cristina Chimenti;Roberta Ricci;Luigi Natale

  415
  Citations

• Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)

  Rick Martin;Michael Beck;Christine Eng;Roberto Giugliani

  410
  Citations

• Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

  Linyan Meng;Linyan Meng;Mohan Pammi;Anirudh Saronwala;Pilar Magoulas;Pilar Magoulas

  396
  Citations

• Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

  Robert J Hopkin;Robert J Hopkin;John Bissler;John Bissler;Maryam Banikazemi;Lorne Clarke

  326
  Citations