Donna M Muzny

Donna M Muzny

UNVERIFIED PROFILE

Are you Donna M Muzny?   Register this Author

Register author
Donna M Muzny

Donna M Muzny

Publications by authors named "Donna M Muzny"

Are you Donna M Muzny?   Register this Author

100Publications

4784Reads

26Profile Views

Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome.

J Mol Diagn 2019 May 17;21(3):449-461. Epub 2019 Apr 17.

Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas; Texas Children's Microbiome Center, Texas Children's Hospital, Houston, Texas; Department of Pathology, Texas Children's Hospital, Houston, Texas; Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, Texas. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2019.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6504675PMC
May 2019

Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome.

Genome Biol 2019 Apr 2;20(1):64. Epub 2019 Apr 2.

Human Genome Sequencing Center, Department of Human and Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13059-019-1660-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444547PMC
April 2019

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

Cell 2019 Mar 28;176(6):1310-1324.e10. Epub 2019 Feb 28.

Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA; Department of Pediatrics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Dan L. Duncan Comprehensive Cancer Center, BCM, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2019.01.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438178PMC
March 2019

Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series.

Neuro Oncol 2018 Nov;20(12):1625-1633

Department of Medicine, Section of Epidemiology and Population Sciences, Dan L. Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/neuonc/noy119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231201PMC
November 2018

Reproductive Longevity Predicts Mutation Rates in Primates.

Curr Biol 2018 Oct 27;28(19):3193-3197.e5. Epub 2018 Sep 27.

Department of Biology, Indiana University, 107 S. Indiana Avenue, Bloomington, IN 47405, USA; Department of Computer Science, Indiana University, 107 S. Indiana Avenue, Bloomington, IN 47405, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09609822183113
Publisher Site
http://dx.doi.org/10.1016/j.cub.2018.08.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177314PMC
October 2018

Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment.

J Allergy Clin Immunol 2018 Aug 10;142(2):605-617.e7. Epub 2018 Jan 10.

Center for Human Immunobiology, Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, Houston, Tex. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2017.11.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109967PMC
August 2018

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Authors:
Joshua C Bis Xueqiu Jian Brian W Kunkle Yuning Chen Kara L Hamilton-Nelson William S Bush William J Salerno Daniel Lancour Yiyi Ma Alan E Renton Edoardo Marcora John J Farrell Yi Zhao Liming Qu Shahzad Ahmad Najaf Amin Philippe Amouyel Gary W Beecham Jennifer E Below Dominique Campion Camille Charbonnier Jaeyoon Chung Paul K Crane Carlos Cruchaga L Adrienne Cupples Jean-François Dartigues Stéphanie Debette Jean-François Deleuze Lucinda Fulton Stacey B Gabriel Emmanuelle Genin Richard A Gibbs Alison Goate Benjamin Grenier-Boley Namrata Gupta Jonathan L Haines Aki S Havulinna Seppo Helisalmi Mikko Hiltunen Daniel P Howrigan M Arfan Ikram Jaakko Kaprio Jan Konrad Amanda Kuzma Eric S Lander Mark Lathrop Terho Lehtimäki Honghuang Lin Kari Mattila Richard Mayeux Donna M Muzny Waleed Nasser Benjamin Neale Kwangsik Nho Gaël Nicolas Devanshi Patel Margaret A Pericak-Vance Markus Perola Bruce M Psaty Olivier Quenez Farid Rajabli Richard Redon Christiane Reitz Anne M Remes Veikko Salomaa Chloe Sarnowski Helena Schmidt Michael Schmidt Reinhold Schmidt Hilkka Soininen Timothy A Thornton Giuseppe Tosto Christophe Tzourio Sven J van der Lee Cornelia M van Duijn Badri Vardarajan Weixin Wang Ellen Wijsman Richard K Wilson Daniela Witten Kim C Worley Xiaoling Zhang Celine Bellenguez Jean-Charles Lambert Mitja I Kurki Aarno Palotie Mark Daly Eric Boerwinkle Kathryn L Lunetta Anita L Destefano Josée Dupuis Eden R Martin Gerard D Schellenberg Sudha Seshadri Adam C Naj Myriam Fornage Lindsay A Farrer

Mol Psychiatry 2018 Aug 14. Epub 2018 Aug 14.

Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41380-018-0112-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375806PMC
August 2018

The gut mycobiome of the Human Microbiome Project healthy cohort.

Microbiome 2017 Nov 25;5(1):153. Epub 2017 Nov 25.

Alkek Center for Metagenomics and Microbiome Research, Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40168-017-0373-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702186PMC
November 2017

Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study.

Hum Mol Genet 2017 09;26(17):3442-3450

Department of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, 77030 TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddx266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886054PMC
September 2017

Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.

Obesity (Silver Spring) 2017 07 16;25(7):1270-1276. Epub 2017 May 16.

USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/oby.21869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687071PMC
July 2017

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Am J Hum Genet 2017 Jul;101(1):149-156

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, 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.2017.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501868PMC
July 2017

Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation.

Thromb Haemost 2017 06 16;117(6):1083-1092. Epub 2017 Mar 16.

Andrew D. Johnson, Tenure Track Investigator, Population Sciences Branch, National Heart, Lung, and Blood Institute, The Framingham Heart Study, 73 Mt. Wayte Ave. Suite #2, Framingham, MA 01702, USA, Tel.: +1 508 663 4082, E-mail:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1160/TH16-09-0677DOI Listing
June 2017

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

Cell 2017 02;168(5):830-842.e7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2017.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407901PMC
February 2017

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Genet Med 2017 01 12;19(1):13-19. Epub 2016 May 12.

Section of Child Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2016.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107176PMC
January 2017

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

N Engl J Med 2017 01 7;376(1):21-31. Epub 2016 Dec 7.

From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1516767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335876PMC
January 2017

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.

Neuron 2017 Jan 22;93(1):115-131. Epub 2016 Dec 22.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuron.2016.11.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242142PMC
January 2017

Erratum to: The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species.

Genome Biol 2017 01 18;18(1):11. Epub 2017 Jan 18.

USDA-ARS, Center for Medical, Agricultural and Veterinary Entomology, 1700 S.W. 23rd Drive, Gainesville, FL, 32608, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13059-017-1155-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241912PMC
January 2017

Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations at the beetle-plant interface.

Genome Biol 2016 11 11;17(1):227. Epub 2016 Nov 11.

Human Genome Sequencing Center, Department of Human and Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13059-016-1088-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105290PMC
November 2016

A potential founder variant in in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.

Mol Genet Genomic Med 2016 Nov 17;4(6):604-616. Epub 2016 Sep 17.

Baylor-Hopkins Center for Mendelian Genomics (BHCMG) of the Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Norwegian National Unit for Newborn ScreeningDivision of Children and Adolescent MedicineOslo University HospitalOsloNorway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118205PMC
November 2016

Multifaceted biological insights from a draft genome sequence of the tobacco hornworm moth, Manduca sexta.

Authors:
Michael R Kanost Estela L Arrese Xiaolong Cao Yun-Ru Chen Sanjay Chellapilla Marian R Goldsmith Ewald Grosse-Wilde David G Heckel Nicolae Herndon Haobo Jiang Alexie Papanicolaou Jiaxin Qu Jose L Soulages Heiko Vogel James Walters Robert M Waterhouse Seung-Joon Ahn Francisca C Almeida Chunju An Peshtewani Aqrawi Anne Bretschneider William B Bryant Sascha Bucks Hsu Chao Germain Chevignon Jayne M Christen David F Clarke Neal T Dittmer Laura C F Ferguson Spyridoula Garavelou Karl H J Gordon Ramesh T Gunaratna Yi Han Frank Hauser Yan He Hanna Heidel-Fischer Ariana Hirsh Yingxia Hu Hongbo Jiang Divya Kalra Christian Klinner Christopher König Christie Kovar Ashley R Kroll Suyog S Kuwar Sandy L Lee Rüdiger Lehman Kai Li Zhaofei Li Hanquan Liang Shanna Lovelace Zhiqiang Lu Jennifer H Mansfield Kyle J McCulloch Tittu Mathew Brian Morton Donna M Muzny David Neunemann Fiona Ongeri Yannick Pauchet Ling-Ling Pu Ioannis Pyrousis Xiang-Jun Rao Amanda Redding Charles Roesel Alejandro Sanchez-Gracia Sarah Schaack Aditi Shukla Guillaume Tetreau Yang Wang Guang-Hua Xiong Walther Traut Tom K Walsh Kim C Worley Di Wu Wenbi Wu Yuan-Qing Wu Xiufeng Zhang Zhen Zou Hannah Zucker Adriana D Briscoe Thorsten Burmester Rollie J Clem René Feyereisen Cornelis J P Grimmelikhuijzen Stavros J Hamodrakas Bill S Hansson Elisabeth Huguet Lars S Jermiin Que Lan Herman K Lehman Marce Lorenzen Hans Merzendorfer Ioannis Michalopoulos David B Morton Subbaratnam Muthukrishnan John G Oakeshott Will Palmer Yoonseong Park A Lorena Passarelli Julio Rozas Lawrence M Schwartz Wendy Smith Agnes Southgate Andreas Vilcinskas Richard Vogt Ping Wang John Werren Xiao-Qiang Yu Jing-Jiang Zhou Susan J Brown Steven E Scherer Stephen Richards Gary W Blissard

Insect Biochem Mol Biol 2016 09 12;76:118-147. Epub 2016 Aug 12.

Boyce Thompson Institute at Cornell University, Tower Road, Ithaca, NY, 14853, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ibmb.2016.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010457PMC
September 2016

The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species.

Genome Biol 2016 09 22;17(1):192. Epub 2016 Sep 22.

USDA-ARS, Center for Medical, Agricultural, and Veterinary Entomology, 1700 S.W. 23rd Drive, Gainesville, FL, 32608, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13059-016-1049-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034548PMC
September 2016

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

Am J Med Genet A 2016 08 12;170(8):2181-5. Epub 2016 May 12.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37727DOI Listing
August 2016

Two male sibs with severe micrognathia and a missense variant in MED12.

Eur J Med Genet 2016 Aug 7;59(8):367-72. Epub 2016 Jun 7.

Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Norwegian National Unit for Newborn Screening, Oslo University Hospital, 0424, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2016.06.001DOI Listing
August 2016

Loss-of-function variants influence the human serum metabolome.

Sci Adv 2016 08 31;2(8):e1600800. Epub 2016 Aug 31.

Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/sciadv.1600800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007069PMC
August 2016

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

Pediatr Neurol 2016 07 9;60:83-7. Epub 2016 Apr 9.

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2016.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125779PMC
July 2016

SV-STAT accurately detects structural variation via alignment to reference-based assemblies.

Source Code Biol Med 2016 18;11. Epub 2016 Jun 18.

Structural and Computational Biology and Molecular Biophysics (SCBMB) Program, Baylor College of Medicine, Houston, TX 77030 USA ; Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX 77030 USA ; W. M. Keck Center for Interdisciplinary Bioscience Training, Houston, TX 77005 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13029-016-0051-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4913042PMC
June 2016

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.

Hum Mutat 2016 Mar 31;37(3):231-234. Epub 2015 Dec 31.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752396PMC
March 2016

Unique features of a global human ectoparasite identified through sequencing of the bed bug genome.

Nat Commun 2016 Feb 2;7:10165. Epub 2016 Feb 2.

Human Genome Sequencing Center, Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ncomms10165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4740739PMC
February 2016

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

Mol Genet Genomic Med 2016 Jan 14;4(1):77-94. Epub 2015 Nov 14.

Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Department of PediatricsBaylor College of MedicineHoustonTexas; Texas Children's HospitalHoustonTexas; Department of OphthalmologyBaylor College of MedicineHoustonTexas; Department of MedicineBaylor College of MedicineHoustonTexas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707028PMC
January 2016

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
Publisher Site
http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

An integrated map of structural variation in 2,504 human genomes.

Nature 2015 Oct;526(7571):75-81

European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature15394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617611PMC
October 2015

Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.

Circ Cardiovasc Genet 2015 Aug 29;8(4):544-52. Epub 2015 May 29.

From the Human Genome Sequencing Center (M.N.B., M.W., H.D., D.M., E.B., R.G.), Department Pediatrics-Cardiology, Baylor College of Medicine, Houston, TX (H.R.M., R.P., J.L.J.); Codified Genomics, LLC, Houston, TX (M.N.B.); Center for Human Disease Modeling, Duke University Medical Center, Durham, NC (E.E.D., N.K.); and Department of Cell Biology, Duke University, Durham, NC (W.-Y.C., A.D.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.115.001026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545476PMC
August 2015

Secondary findings and carrier test frequencies in a large multiethnic sample.

Genome Med 2015 13;7(1):54. Epub 2015 Jun 13.

The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030 USA ; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13073-015-0171-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507324PMC
July 2015

The genomes of two key bumblebee species with primitive eusocial organization.

Authors:
Ben M Sadd Seth M Barribeau Guy Bloch Dirk C de Graaf Peter Dearden Christine G Elsik Jürgen Gadau Cornelis J P Grimmelikhuijzen Martin Hasselmann Jeffrey D Lozier Hugh M Robertson Guy Smagghe Eckart Stolle Matthias Van Vaerenbergh Robert M Waterhouse Erich Bornberg-Bauer Steffen Klasberg Anna K Bennett Francisco Câmara Roderic Guigó Katharina Hoff Marco Mariotti Monica Munoz-Torres Terence Murphy Didac Santesmasses Gro V Amdam Matthew Beckers Martin Beye Matthias Biewer Márcia M G Bitondi Mark L Blaxter Andrew F G Bourke Mark J F Brown Severine D Buechel Rossanah Cameron Kaat Cappelle James C Carolan Olivier Christiaens Kate L Ciborowski David F Clarke Thomas J Colgan David H Collins Andrew G Cridge Tamas Dalmay Stephanie Dreier Louis du Plessis Elizabeth Duncan Silvio Erler Jay Evans Tiago Falcon Kevin Flores Flávia C P Freitas Taro Fuchikawa Tanja Gempe Klaus Hartfelder Frank Hauser Sophie Helbing Fernanda C Humann Frano Irvine Lars S Jermiin Claire E Johnson Reed M Johnson Andrew K Jones Tatsuhiko Kadowaki Jonathan H Kidner Vasco Koch Arian Köhler F Bernhard Kraus H Michael G Lattorff Megan Leask Gabrielle A Lockett Eamonn B Mallon David S Marco Antonio Monika Marxer Ivan Meeus Robin F A Moritz Ajay Nair Kathrin Näpflin Inga Nissen Jinzhi Niu Francis M F Nunes John G Oakeshott Amy Osborne Marianne Otte Daniel G Pinheiro Nina Rossié Olav Rueppell Carolina G Santos Regula Schmid-Hempel Björn D Schmitt Christina Schulte Zilá L P Simões Michelle P M Soares Luc Swevers Eva C Winnebeck Florian Wolschin Na Yu Evgeny M Zdobnov Peshtewani K Aqrawi Kerstin P Blankenburg Marcus Coyle Liezl Francisco Alvaro G Hernandez Michael Holder Matthew E Hudson LaRonda Jackson Joy Jayaseelan Vandita Joshi Christie Kovar Sandra L Lee Robert Mata Tittu Mathew Irene F Newsham Robin Ngo Geoffrey Okwuonu Christopher Pham Ling-Ling Pu Nehad Saada Jireh Santibanez DeNard Simmons Rebecca Thornton Aarti Venkat Kimberly K O Walden Yuan-Qing Wu Griet Debyser Bart Devreese Claire Asher Julie Blommaert Ariel D Chipman Lars Chittka Bertrand Fouks Jisheng Liu Meaghan P O'Neill Seirian Sumner Daniela Puiu Jiaxin Qu Steven L Salzberg Steven E Scherer Donna M Muzny Stephen Richards Gene E Robinson Richard A Gibbs Paul Schmid-Hempel Kim C Worley

Genome Biol 2015 Apr 24;16:76. Epub 2015 Apr 24.

Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, MS BCM226, One Baylor Plaza, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13059-015-0623-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414376PMC
April 2015