Michael J Bamshad

Michael J Bamshad

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Michael J Bamshad

Publications by authors named "Michael J Bamshad"

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Mendelian Gene Discovery: Fast and Furious with No End in Sight.

Am J Hum Genet 2019 Sep;105(3):448-455

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute for Precision Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.ajhg.2019.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731362PMC
September 2019

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections.

Eur J Hum Genet 2019 Jul 26;27(7):1054-1060. Epub 2019 Feb 26.

Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, USA.

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http://dx.doi.org/10.1038/s41431-019-0357-xDOI Listing
July 2019

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Am J Hum Genet 2018 12 7;103(6):968-975. Epub 2018 Nov 7.

Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288318PMC
December 2018

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

Am J Med Genet A 2018 12 18;176(12):2887-2891. Epub 2018 Nov 18.

Department of Pediatrics, Division of Medical Genetics, Stanford University Medical Center, Stanford, California.

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http://doi.wiley.com/10.1002/ajmg.a.40647
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http://dx.doi.org/10.1002/ajmg.a.40647DOI Listing
December 2018

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Am J Hum Genet 2018 11 25;103(5):679-690. Epub 2018 Oct 25.

Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183032
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http://dx.doi.org/10.1016/j.ajhg.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217759PMC
November 2018

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.

Hum Genet 2018 Jul 3;137(6-7):471-478. Epub 2018 Jul 3.

Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, One Baylor Plaza 700D, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-018-1899-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094940PMC
July 2018

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

BMC Med Genet 2018 07 20;19(1):122. Epub 2018 Jul 20.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza 700D, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1186/s12881-018-0618-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053831PMC
July 2018

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Hum Mutat 2018 06 22;39(6):811-815. Epub 2018 Mar 22.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California.

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http://dx.doi.org/10.1002/humu.23417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992059PMC
June 2018

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

Dev Cell 2018 04;45(2):226-244.e8

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2018.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920516PMC
April 2018

Genetic counselors on the frontline of precision health.

Am J Med Genet C Semin Med Genet 2018 03 26;178(1):5-9. Epub 2018 Mar 26.

Department of Pediatrics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.c.31610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910203PMC
March 2018

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

Ann N Y Acad Sci 2018 02 28;1413(1):119-125. Epub 2018 Jan 28.

Department of Medicine and Rehabilitation, University of California Davis, Sacramento, California.

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http://dx.doi.org/10.1111/nyas.13585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252105PMC
February 2018

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.

Am J Med Genet A 2017 Nov 29;173(11):2906-2911. Epub 2017 Aug 29.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

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http://doi.wiley.com/10.1002/ajmg.a.38412
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http://dx.doi.org/10.1002/ajmg.a.38412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650519PMC
November 2017

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Am J Med Genet A 2017 Nov 8;173(11):3098-3103. Epub 2017 Sep 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659324PMC
November 2017

Identification of ASAH1 as a susceptibility gene for familial keloids.

Eur J Hum Genet 2017 10 26;25(10):1155-1161. Epub 2017 Jul 26.

Center for Regenerative Medicine and Skeletal Development, Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, CT, USA.

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http://dx.doi.org/10.1038/ejhg.2017.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602022PMC
October 2017

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

Am J Med Genet A 2017 Sep 25;173(9):2415-2421. Epub 2017 Jul 25.

Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.38349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564418PMC
September 2017

A Qualitative Analysis of How Anthropologists Interpret the Race Construct.

Am Anthropol 2017 Sep 14;119(3):422-434. Epub 2017 Aug 14.

Departments of African and African American Studies, Biology and Community and Family Medicine and Center on Genomics, Race, Identity, Difference Duke University, Durham, NC 27708;

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http://dx.doi.org/10.1111/aman.12890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075721PMC
September 2017

Anthropologists' views on race, ancestry, and genetics.

Am J Phys Anthropol 2017 Feb 22;162(2):318-327. Epub 2016 Nov 22.

Duke University, Durham, North Carolina, 27708.

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http://dx.doi.org/10.1002/ajpa.23120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5299519PMC
February 2017

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

Thyroid 2017 01 7;27(1):129-131. Epub 2016 Dec 7.

1 Department of Medicine, The University of Chicago , Chicago, Illinois.

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http://dx.doi.org/10.1089/thy.2016.0469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206697PMC
January 2017

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.

Am J Hum Genet 2016 Oct 22;99(4):791-801. Epub 2016 Sep 22.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065683PMC
October 2016

Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.

Mol Genet Metab 2016 09 14;119(1-2):83-90. Epub 2016 Jun 14.

Department of Medical Genomics, Royal Prince Alfred Hospital, The University of Sydney, NSW 2050, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.008DOI Listing
September 2016

Use of metaphors about exome and whole genome sequencing.

Am J Med Genet A 2016 May 29;170A(5):1127-33. Epub 2016 Jan 29.

Department of Pediatrics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37571DOI Listing
May 2016

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Circ Res 2016 Mar 12;118(6):928-34. Epub 2016 Jan 12.

From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.).

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http://dx.doi.org/10.1161/CIRCRESAHA.115.307130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839295PMC
March 2016

Contractile properties of developing human fetal cardiac muscle.

J Physiol 2016 Jan 7;594(2):437-52. Epub 2015 Dec 7.

Department of Bioengineering, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1113/JP271290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4713728PMC
January 2016

Developments in our understanding of the genetic basis of birth defects.

Birth Defects Res A Clin Mol Teratol 2015 Aug 28;103(8):680-91. Epub 2015 May 28.

Division of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

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http://dx.doi.org/10.1002/bdra.23385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537658PMC
August 2015

Speech and language in a genotyped cohort of individuals with Kabuki syndrome.

Am J Med Genet A 2015 Jul 8;167(7):1483-92. Epub 2015 Mar 8.

Department of Paediatrics, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37026DOI Listing
July 2015

The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.

Hum Mol Genet 2015 Jun 3;24(12):3348-58. Epub 2015 Mar 3.

Department of Bioengineering, Center for Cardiovascular Biology, University of Washington, Seattle, WA 98195, USA and

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http://dx.doi.org/10.1093/hmg/ddv084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481580PMC
June 2015

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

PLoS Genet 2015 Jun 5;11(6):e1005273. Epub 2015 Jun 5.

Department of Pediatrics, University of Washington, Seattle, Washington, United States of America; Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457883PMC
June 2015

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Nature 2015 Feb 10;518(7537):102-6. Epub 2014 Dec 10.

1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [3] Department of Medicine, Harvard Medical School, Boston, Massachusetts 02114, USA. [4] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.

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http://kooperberg.fhcrc.org/papers/2015do.pdf
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http://www.nature.com/doifinder/10.1038/nature13917
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http://dx.doi.org/10.1038/nature13917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319990PMC
February 2015

Estimates of continental ancestry vary widely among individuals with the same mtDNA haplogroup.

Am J Hum Genet 2015 Feb 22;96(2):183-93. Epub 2015 Jan 22.

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320259PMC
February 2015

Genotype-phenotype relationships in Freeman-Sheldon syndrome.

Am J Med Genet A 2014 Nov 25;164A(11):2808-13. Epub 2014 Sep 25.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington; Seattle Children's Hospital, Seattle, Washington.

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http://doi.wiley.com/10.1002/ajmg.a.36762
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http://dx.doi.org/10.1002/ajmg.a.36762DOI Listing
November 2014

RNF213 rare variants in an ethnically diverse population with Moyamoya disease.

Stroke 2014 Nov 2;45(11):3200-7. Epub 2014 Oct 2.

From the Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston (A.C.C., D.G., Z.R., K.F., E.S.R., H.P., D.M.M.); Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L., G.T.W.); Department of Genome Sciences (J.S., M.J.B., D.A.N.) and Department of Pediatrics (M.J.B.), University of Washington, Seattle; Department of Neurosurgery, Stanford University, CA (G.K.S.); and Clinical Innovation and Research Institute, Memorial Hermann Hospital, Houston, TX (J.C.G.).

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http://dx.doi.org/10.1161/STROKEAHA.114.006244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4420622PMC
November 2014

Characteristics of neutral and deleterious protein-coding variation among individuals and populations.

Am J Hum Genet 2014 Oct;95(4):421-36

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185119PMC
October 2014

Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing.

Am J Med Genet A 2014 Sep 20;164A(9):2153-60. Epub 2014 May 20.

Department of Pediatrics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.36610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357389PMC
September 2014

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Am J Med Genet A 2014 Sep 20;164A(9):2407-11. Epub 2014 Jun 20.

Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.36640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134718PMC
September 2014

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

Am J Hum Genet 2014 Aug 31;95(2):183-93. Epub 2014 Jul 31.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140031
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http://dx.doi.org/10.1016/j.ajhg.2014.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129409PMC
August 2014

Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing.

Am J Hum Genet 2014 Jul 26;95(1):77-84. Epub 2014 Jun 26.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.ajhg.2014.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4085580PMC
July 2014

A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes.

J Mol Biol 2014 Jun 27;426(12):2283-99. Epub 2014 Mar 27.

Department of Biochemistry and Molecular Biology, SUNY Upstate Medical University, Syracuse, NY 13210, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00222836140015
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http://dx.doi.org/10.1016/j.jmb.2014.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066448PMC
June 2014