Publications by authors named "Anne Chun-Hui Tsai"

34Publications

[Standard training and certification of clinical geneticist in the United States].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Jan;36(1):28-31

Section of Clinical Genetics and Metabolism, Department of Pediatrics, Children's Hospital Colorado, University of Colorado,Aurora, CO 80045, USA. Email:

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January 2019

[Introduction of the American Board of Medical Genetics and Genomics (ABMGG) Certification Exams and maintenance of certification].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Jan;36(1):13-22

Department of Laboratory Medicine, University of California San Francisco, San Francisco, CA 94143, USA.

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January 2019

[Standardization and accreditation of training programs in clinical genetics in the United States].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Jan;36(1):7-12

Section of Clinical Genetics and Metabolism, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Aurora, CO 80045, USA. Email:

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January 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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February 2019

Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.

Am J Med Genet A 2017 Sep 28;173(9):2500-2504. Epub 2017 Jun 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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September 2017

Toward Best Practice in Using Molecular Diagnosis to Guide Medical Management, Are We There Yet?

N Am J Med Sci (Boston) 2014 Oct;7(4):199-200

Department of Otolaryngology and Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL.

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October 2014

Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.

Am J Med Genet A 2011 Nov 19;155A(11):2766-70. Epub 2011 Sep 19.

Division of Clinical Genetics and Metabolism, The Children's Hospital, UC Denver School of Medicine, Aurora, Colorado, USA.

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November 2011

Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.

J Craniofac Surg 2010 Sep;21(5):1369-75

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Denver School of Medicine, Aurora, Colorado, USA.

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September 2010