Michael J Bamshad

Michael J Bamshad

UNVERIFIED PROFILE

Are you Michael J Bamshad?   Register this Author

Register author
Michael J Bamshad

Michael J Bamshad

Publications by authors named "Michael J Bamshad"

Are you Michael J Bamshad?   Register this Author

100Publications

3709Reads

41Profile Views

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Mol Genet Genomic Med 2020 Aug 3:e1406. Epub 2020 Aug 3.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.1406DOI Listing
August 2020

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Am J Hum Genet 2020 Jul 16. Epub 2020 Jul 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.06.014DOI Listing
July 2020

The American Journal of Human Genetics Welcomes Human Genetics and Genomics Advances to the ASHG Publications Family.

Am J Hum Genet 2020 06;106(6):727-728

Editor-in-chief, American Journal of Human Genetics.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.05.007DOI Listing
June 2020

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.

J Inherit Metab Dis 2020 May 12. Epub 2020 May 12.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12249DOI Listing
May 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.

View Article

Download full-text PDF

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

8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer.

Nat Commun 2020 03 23;11(1):1523. Epub 2020 Mar 23.

Department of Medicine, Division of Genetic Medicine, Vanderbilt-Ingram Cancer Center, and Vanderbilt Genetics Institute, Vanderbilt University Medical Center, 507 Light Hall, 2215 Garland Avenue, Nashville, TN, 37232, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-020-15122-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7089954PMC
March 2020

Genetic Ancestry Testing: What Is It and Why Is It Important?

JAMA 2020 Feb 14. Epub 2020 Feb 14.

Department of Pediatrics, University of Washington, Seattle.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jama.2020.0517DOI Listing
February 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

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

Am J Hum Genet 2019 09;105(3):448-455

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

View Article

Download full-text PDF

Source
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 07 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0357-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777456PMC
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:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
Publisher Site
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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.40647
Publisher Site
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.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183032
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.38412
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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;

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.).

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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;

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://kooperberg.fhcrc.org/papers/2015do.pdf
Web Search
http://www.nature.com/doifinder/10.1038/nature13917
Publisher Site
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:

View Article

Download full-text PDF

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