Michael H Guo

Michael H Guo

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Michael H Guo

Michael H Guo

Publications by authors named "Michael H Guo"

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Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels.

Genet Med 2019 09 8;21(9):1940-1947. Epub 2019 Mar 8.

Department of Obstetrics and Gynecology, Baylor University Medical Center, Dallas, TX, 75246, USA.

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http://dx.doi.org/10.1038/s41436-019-0472-7DOI Listing
September 2019

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data.

Am J Hum Genet 2018 10 27;103(4):522-534. Epub 2018 Sep 27.

Division of Endocrinology, Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183028
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http://dx.doi.org/10.1016/j.ajhg.2018.08.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174288PMC
October 2018

Case of Serotonin Syndrome Initially Presenting as Diffuse Body Pain.

Am J Case Rep 2018 Oct 15;19:1227-1231. Epub 2018 Oct 15.

Department of Medicine, University of Florida, Gainesville, FL, USA.

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https://www.amjcaserep.com/abstract/index/idArt/911204
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http://dx.doi.org/10.12659/AJCR.911204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196581PMC
October 2018

Insights and Implications of Genome-Wide Association Studies of Height.

J Clin Endocrinol Metab 2018 09;103(9):3155-3168

Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1210/jc.2018-01126DOI Listing
September 2018

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

Horm Res Paediatr 2017 10;87(6):412-422. Epub 2017 Apr 10.

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000464143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509495PMC
April 2018

A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development.

Cell Stem Cell 2018 04;22(4):575-588.e7

Stem Cell Program, Division of Hematology/Oncology, Manton Center for Orphan Disease Research, Boston Children's Hospital and Dana-Farber Cancer Institute, Boston, MA 02115, USA; Department of Biological Chemistry and Molecular Pharmacology, Harvard Stem Cell Institute, Harvard Medical School, Boston, MA 02115, USA; Harvard Stem Cell Institute, Cambridge, MA 02138, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2018.03.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5957284PMC
April 2018

Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing.

Horm Res Paediatr 2017 24;87(4):264-270. Epub 2016 Aug 24.

Division of Endocrinology, Boston Children's Hospital, Boston, Mass., USA.

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http://dx.doi.org/10.1159/000448754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5325809PMC
March 2018

Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.

Am J Hum Genet 2016 09 18;99(3):527-539. Epub 2016 Aug 18.

Division of Endocrinology, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011058PMC
September 2016

Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.

Am J Hum Genet 2015 May 9;96(5):695-708. Epub 2015 Apr 9.

Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142, USA; Divisions of Endocrinology and Genetics and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570286PMC
May 2015

A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.

J Clin Endocrinol Metab 2015 Apr 30;100(4):E646-54. Epub 2015 Jan 30.

Harvard Reproductive Sciences Center and Reproductive Endocrine Unit (J.Z., R.E.-Y.C., L.P., C.B., S.B.S., Y.-M.C.), Massachusetts General Hospital, Boston, Massachusetts 02114; Division of Endocrinology, Department of Medicine (M.H.G., J.N.H., Y.-M.C.), Boston Children's Hospital, Boston, Massachusetts 02115; Department of Genetics (M.H.G., J.N.H.), Harvard Medical School, Boston, Massachusetts 02115; Program in Medical and Population Genetics (M.H.G., J.N.H.), Broad Institute, Cambridge, Massachusetts 02142; Division of Endocrinology and Genetics and Genome Biology Program (M.R.P.), Hospital for Sick Children, Toronto, Canada M5G 1X8; and Institute of Medical Science and Departments of Pediatrics and Physiology (M.R.P.), University of Toronto, Toronto, Canada M5S 1A8.

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http://dx.doi.org/10.1210/jc.2015-1080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399304PMC
April 2015

Whole exome sequencing to identify genetic causes of short stature.

Horm Res Paediatr 2014 20;82(1):44-52. Epub 2014 Jun 20.

Department of Genetics, Harvard Medical School, Boston, Mass., USA.

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http://dx.doi.org/10.1159/000360857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4130218PMC
March 2015

Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.

J Clin Endocrinol Metab 2014 Aug 24;99(8):E1510-8. Epub 2014 Apr 24.

Program in Developmental Endocrinology and Genetics (O.N., J.C.L., J.B.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Center for Molecular Medicine and Pediatric Endocrinology Unit, Department of Women's and Children's Health (O.N.), Karolinska Institutet and Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Program in Biological and Biomedical Sciences (M.H.G.), Harvard Medical School, Boston, Massachusetts 02115; Connecticut Children's Medical Center (N.D.), Hartford, Connecticut 06106; Children's Hospital of Pittsburgh (J.P., D.F.), University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224; Division of Endocrinology (M.H.G., C.J., J.N.H., A.D.), Boston Children's Hospital, Boston, Massachusetts 02115; Department of Genetics (M.H.G., J.N.H.), Harvard Medical School, Boston, Massachusetts 02115; and Program in Medical and Population Genetics (J.N.H., A.D.), Broad Institute, Cambridge, Massachusetts 02142.

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http://dx.doi.org/10.1210/jc.2014-1332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121031PMC
August 2014

A closer look at attrition in MD–PhD programs.

Acad Med 2014 Jul;89(7):958-9

Fifth-year MD-PhD student, University of Mississippi Medical Center, Jackson, Mississippi; First-year resident, Department of Neurology and Neuroscience, Weill Cornell Medical College-New York Presbyterian Hospital, New York, New York. Fourth-year MD-PhD student, University of Florida College of Medicine, Gainesville, Florida.

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http://dx.doi.org/10.1097/ACM.0000000000000300DOI Listing
July 2014

Genetics of rheumatoid arthritis contributes to biology and drug discovery.

Nature 2014 Feb 25;506(7488):376-81. Epub 2013 Dec 25.

1] Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. [2] Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. [3] Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142, USA.

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http://dx.doi.org/10.1038/nature12873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944098PMC
February 2014

Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

Am J Med Genet A 2013 Oct 16;161A(10):2519-27. Epub 2013 Aug 16.

Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.36128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788078PMC
October 2013

Using the time and motion method to study clinical work processes and workflow: methodological inconsistencies and a call for standardized research.

J Am Med Inform Assoc 2011 Sep-Oct;18(5):704-10. Epub 2011 Apr 27.

School of Public Health, Department of Health Management and Policy, University of Michigan, Ann Arbor, Michigan 48109-2029, USA.

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http://dx.doi.org/10.1136/amiajnl-2011-000083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168304PMC
January 2012