Publications by authors named "Anne Tsai"

47Publications

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

The different facets of "culture" in genetic counseling: A situated analysis of genetic counseling in Hong Kong.

Am J Med Genet C Semin Med Genet 2019 06 2;181(2):187-195. Epub 2019 May 2.

Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.

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http://dx.doi.org/10.1002/ajmg.c.31699DOI Listing
June 2019

[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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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.01.005DOI Listing
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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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.01.003DOI Listing
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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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.01.002DOI Listing
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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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
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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http://dx.doi.org/10.1002/ajmg.a.38333DOI Listing
September 2017

The Curse of the Dolphins: Cognitive Decline and Psychosis.

J Dev Behav Pediatr 2017 Feb/Mar;38 Suppl 1:S16-S18

*Department of Pediatrics, Child Development and Rehabilitation Center, Institute on Development and Disability, Oregon Health and Science University, Portland, OR; †Department of Pediatrics, Clinical Genetics & Metabolism, University of Colorado, Denver, CO; ‡Division of Academic Pediatrics, Child Development and Community Health, Department of Pediatrics, University of California San Diego, Rady Children's Hospital.

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http://dx.doi.org/10.1097/DBP.0000000000000302DOI Listing
December 2017

The Curse of the Dolphins: Cognitive Decline and Psychosis.

J Dev Behav Pediatr 2016 05;37(4):343-5

*Department of Pediatrics, Child Development and Rehabilitation Center, Institute on Development and Disability, Oregon Health and Science University, Portland, OR; †Department of Pediatrics, Clinical Genetics & Metabolism, University of Colorado, Denver, CO; ‡Division of Academic Pediatrics, Child Development and Community Health, Department of Pediatrics, University of California San Diego, Rady Children's Hospital.

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http://dx.doi.org/10.1097/DBP.0000000000000302DOI Listing
May 2016

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

Pediatrics 2016 Jan 18;137(1). Epub 2015 Dec 18.

Department of Paediatrics, University of Toronto, Ontario, Canada; Surrey Place Center, Toronto, Ontario, Canada.

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http://pediatrics.aappublications.org/lookup/doi/10.1542/ped
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http://dx.doi.org/10.1542/peds.2015-2672DOI Listing
January 2016

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505911PMC
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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http://dx.doi.org/10.1002/ajmg.a.34227DOI Listing
November 2011

Revisiting recombinant 8 syndrome.

Am J Med Genet A 2011 Aug 7;155A(8):1923-9. Epub 2011 Jul 7.

Department of Family Medicine, The Children's Hospital, Denver, University of Colorado at Denver Health Sciences Center, Colorado, USA.

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http://dx.doi.org/10.1002/ajmg.a.34104DOI Listing
August 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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http://dx.doi.org/10.1097/SCS.0b013e3181ec6ac0DOI Listing
September 2010

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.

Am J Med Genet A 2009 Jul;149A(7):1463-7

Department of Pediatrics, UC Denver DNA Diagnostic Laboratory, UC Denver School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1002/ajmg.a.32948DOI Listing
July 2009

Oculocutaneous albinism spectrum.

Am J Med Genet A 2009 Jul;149A(7):1590-1

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http://dx.doi.org/10.1002/ajmg.a.32939DOI Listing
July 2009

Novel human pathological mutations. Gene symbol: COMP. Disease: pseudoachondroplasia.

Hum Genet 2009 Apr;125(3):350

China Medical University Hospital, Dep. of Medical Genetics, College of Chinese Medicine, Taichung city, Taiwan, ROC.

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April 2009

A new hypothesis of OCA1B.

Am J Med Genet A 2008 Nov;146A(22):2968-70

UC Denver DNA Diagnostic Laboratory, Department of Pediatrics, UC Denver School of Medicine, Aurora, CO, USA.

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http://dx.doi.org/10.1002/ajmg.a.32539DOI Listing
November 2008

Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive.

Am J Med Genet A 2008 Jun;146A(11):1493-6

UCHSC DNA Diagnostic Laboratory, Department of Pediatrics, UCDHSC, Aurora, Colorado, USA.

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http://dx.doi.org/10.1002/ajmg.a.32321DOI Listing
June 2008

Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.

Curr Opin Pediatr 2008 Feb;20(1):103-6

DNA Diagnostic Laboratory, Department Pediatrics, University of Colorado at Denver and Health Sciences Center Aurora, Colorado, USA.

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http://dx.doi.org/10.1097/MOP.0b013e3282f357ebDOI Listing
February 2008

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

Am J Med Genet A 2007 Oct;143A(20):2430-4

Division of Clinical Genetics and Metabolism, The Children's Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31932
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http://dx.doi.org/10.1002/ajmg.a.31932DOI Listing
October 2007

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.

Lab Invest 2006 Dec 30;86(12):1208-20. Epub 2006 Oct 30.

Department of Pathology, Genzyme Corporation, Framingham, MA 01701-9322, USA.

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http://dx.doi.org/10.1038/labinvest.3700484DOI Listing
December 2006

De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature.

Am J Med Genet A 2006 Apr;140(8):923-30

Division of Clinical Genetics and Metabolism, The Children's Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA.

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http://dx.doi.org/10.1002/ajmg.a.31184DOI Listing
April 2006

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.

Am J Med Genet A 2004 Jul;128A(2):195-8

Department of Neurology, Columbia University College of Physicians & Surgeons, New York, New York, USA.

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http://dx.doi.org/10.1002/ajmg.a.30073DOI Listing
July 2004

A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13.

Am J Med Genet A 2004 Apr;126A(2):208-12

Department of Pediatrics, Division of Genetics and Metabolism, The Children's Hospital, University of Colorado Health Sciences Center, 1056 E. 19th Avenue, B300, Denver, CO 80218, USA.

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http://dx.doi.org/10.1002/ajmg.a.20581DOI Listing
April 2004

Teebi hypertelorism syndrome: report of a family with previously unrecognized findings.

Am J Med Genet 2002 Dec;113(3):302-6

University of Colorado Health Science Center, Denver, CO 80218, USA.

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http://dx.doi.org/10.1002/ajmg.10870DOI Listing
December 2002