Jennifer E Posey

Jennifer E Posey

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Jennifer E Posey

Jennifer E Posey

Publications by authors named "Jennifer E Posey"

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Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family.

J Neurointerv Surg 2019 Aug 10. Epub 2019 Aug 10.

Department of Interventional Neuroradiology, Beijing Neurosurgical Institute and Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

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http://dx.doi.org/10.1136/neurintsurg-2019-014900DOI Listing
August 2019

Genome sequencing and implications for rare disorders.

Authors:
Jennifer E Posey

Orphanet J Rare Dis 2019 Jun 24;14(1):153. Epub 2019 Jun 24.

Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, T603, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1186/s13023-019-1127-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591893PMC
June 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance.

Pediatr Neurol 2017 01 24;66:53-58.e5. Epub 2016 Sep 24.

Division of Child and Adolescent Neurology, Department of Pediatrics, University of Texas Health Science Center at Houston, McGovern Medical School, Houston, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209259PMC
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.

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

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

Am J Med Genet A 2016 Mar 14;170(3):694-8. Epub 2015 Nov 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760878PMC
March 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.

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

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

Am J Med Genet A 2015 Nov 21;167A(11):2742-7. Epub 2015 Jul 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639746PMC
November 2015

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Am J Med Genet A 2015 Jun 2;167(6):1309-14. Epub 2015 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.36899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449285PMC
June 2015

Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.

Eur J Pediatr 2014 Dec 12;173(12):1741-4. Epub 2014 Nov 12.

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

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http://dx.doi.org/10.1007/s00431-014-2453-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264642PMC
December 2014

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Mol Genet Metab Rep 2014 ;1:176-183

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX, 77030-3411, USA ; Howard Hughes Medical Institute, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235665PMC
January 2014

Understanding how the V(D)J recombinase catalyzes transesterification: distinctions between DNA cleavage and transposition.

Nucleic Acids Res 2008 May 29;36(9):2864-73. Epub 2008 Mar 29.

Program in Molecular Pathogenesis, Department of Pathology, New York University School of Medicine, 540 First Avenue, New York, NY 10016, USA.

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http://dx.doi.org/10.1093/nar/gkn128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2396405PMC
May 2008

Target DNA structure plays a critical role in RAG transposition.

PLoS Biol 2006 Nov;4(11):e350

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://dx.doi.org/10.1371/journal.pbio.0040350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1618415PMC
November 2006