Michael Bamshad

Michael Bamshad

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Michael Bamshad

Michael Bamshad

Publications by authors named "Michael Bamshad"

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

Genet Med 2019 Nov 14. 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
November 2019

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

Dominant-negative SOX9 mutations in campomelic dysplasia.

Hum Mutat 2019 Aug 7. Epub 2019 Aug 7.

Department of Orthopaedic Surgery, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/humu.23888DOI Listing
August 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
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:

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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

Complex signatures of natural selection at GYPA.

Hum Genet 2018 Feb 23;137(2):151-160. Epub 2018 Jan 23.

Departments of Pediatrics and Genome Sciences, The University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1007/s00439-018-1866-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6223178PMC
February 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

Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.

Birth Defects Res 2017 Oct 27;109(16):1257-1267. Epub 2017 Jul 27.

Department of Otolaryngology-Head and Neck Surgery, Columbia University Medical Center, New York, New York.

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http://dx.doi.org/10.1002/bdr2.1063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5854563PMC
October 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

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

Am J Med Genet A 2016 12 17;170(12):3298-3302. Epub 2016 Aug 17.

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

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http://dx.doi.org/10.1002/ajmg.a.37942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5115972PMC
December 2016

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.

Dis Model Mech 2016 11 4;9(11):1257-1269. Epub 2016 Aug 4.

Department of Human Genetics, University of Utah, 15 North 2030 East, Salt Lake City, UT 84112, USA

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http://dx.doi.org/10.1242/dmm.025874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117227PMC
November 2016

Update on the Toriello-Carey syndrome.

Am J Med Genet A 2016 10 11;170(10):2551-8. Epub 2016 Aug 11.

Division of Medical Genetics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37735DOI Listing
October 2016

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.

Nature 2016 Oct 21;538(7624):201-206. Epub 2016 Sep 21.

Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/nature18964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161557PMC
October 2016

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

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

Sci Rep 2016 Sep 26;6:34232. Epub 2016 Sep 26.

Department of Orthopaedic Surgery, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California, 90095, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035930PMC
http://dx.doi.org/10.1038/srep34232DOI Listing
September 2016

A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.

Am J Med Genet A 2016 07 3;170(7):1908-11. Epub 2016 May 3.

Center for Clinical and Translational Research, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37676DOI Listing
July 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