Jennifer J Johnston

Jennifer J Johnston

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Jennifer J Johnston

Jennifer J Johnston

Publications by authors named "Jennifer J Johnston"

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Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes.

Genet Med 2019 03 12;21(3):748-752. Epub 2018 Jul 12.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/s41436-018-0083-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330155PMC
March 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

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Am J Hum Genet 2018 12 15;103(6):976-983. Epub 2018 Nov 15.

Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288050PMC
December 2018

Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial.

Am J Hum Genet 2018 04 8;102(4):540-546. Epub 2018 Mar 8.

Social and Behavioral Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985358PMC
April 2018

Improving implementation of the smoking cessation guidelines with pregnant women: How to support clinicians?

Midwifery 2018 Mar 26;58:137-144. Epub 2017 Dec 26.

University of Sydney School of Public Health (University Centre for Rural Health - North Coast), Lismore, NSW 2480, Australia; Northern NSW Local Health District, Lismore, Australia.

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http://dx.doi.org/10.1016/j.midw.2017.12.016DOI Listing
March 2018

Suppurative complications of acute hematogenous osteomyelitis in children.

J Pediatr Orthop B 2017 Nov;26(6):491-496

aUniversity of New Mexico School of Medicine bDepartment of Internal Medicine, Division of Epidemiology, Biostatistics, and Preventive Medicine cDepartment of Pediatrics, Division of Infectious Disease, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.

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http://dx.doi.org/10.1097/BPB.0000000000000437DOI Listing
November 2017

Non-Type b Haemophilus influenzae Septic Arthritis in Children.

J Pediatric Infect Dis Soc 2017 Sep;6(3):e134-e139

Department of Pediatrics.

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http://dx.doi.org/10.1093/jpids/piw024DOI Listing
September 2017

Nontyphoidal Salmonella Osteomyelitis in Immunocompetent Children Without Hemoglobinopathies: A Case Series and Systematic Review of the Literature.

Pediatr Infect Dis J 2017 Sep;36(9):910-912

From the *Division of Critical Care, Department of Pediatrics, The University of New Mexico, †Division of Infectious Diseases, Department of Pediatrics, The University of New Mexico, ‡Department of Family and Community Medicine, The University of New Mexico Health Sciences Informatics Center, and §The University of New Mexico School of Medicine, Albuquerque, New Mexico.

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http://dx.doi.org/10.1097/INF.0000000000001555DOI Listing
September 2017

Compound heterozygous alterations in intraflagellar transport protein in a child with a novel Joubert and oral-facial-digital overlap syndrome.

Cold Spring Harb Mol Case Stud 2017 07 5;3(4). Epub 2017 Jul 5.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1101/mcs.a001321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495032PMC
July 2017

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Genet Med 2017 03 18;19(3):357-361. Epub 2016 Aug 18.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.nature.com/articles/gim2016105
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http://dx.doi.org/10.1038/gim.2016.105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316383PMC
March 2017

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Am J Hum Genet 2016 Nov 13;99(5):1034-1044. Epub 2016 Oct 13.

The National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097944PMC
November 2016

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.

Hum Genome Var 2015 19;2:15045. Epub 2015 Nov 19.

Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.

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http://dx.doi.org/10.1038/hgv.2015.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785546PMC
April 2016

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

Hum Genome Var 2016 4;3:15069. Epub 2016 Feb 4.

Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.

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http://dx.doi.org/10.1038/hgv.2015.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760119PMC
April 2016

A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness.

Eur J Hum Genet 2016 01 19;25(1):147-149. Epub 2016 Oct 19.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/ejhg.2016.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159773PMC
January 2016

Generalization of category knowledge and dimensional categorization in humans (Homo sapiens) and nonhuman primates (Macaca mulatta).

J Exp Psychol Anim Learn Cogn 2015 Oct 13;41(4):322-35. Epub 2015 Jul 13.

Department of Psychology, University at Buffalo, The State University of New York.

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http://dx.doi.org/10.1037/xan0000071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593734PMC
October 2015

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Am J Med Genet A 2015 Sep 29;167A(9):2122-31. Epub 2015 Apr 29.

Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.

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http://doi.wiley.com/10.1002/ajmg.a.37131
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http://dx.doi.org/10.1002/ajmg.a.37131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760347PMC
September 2015

Cross-modal information integration in category learning.

Atten Percept Psychophys 2014 Jul;76(5):1473-84

Department of Psychology, University of Buffalo, The State University of New York, 346 Park Hall, Buffalo, NY, 14260, USA,

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http://dx.doi.org/10.3758/s13414-014-0659-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096072PMC
July 2014

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

Am J Med Genet A 2014 Jan 20;164A(1):120-8. Epub 2013 Nov 20.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4443488PMC
January 2014

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

Am J Med Genet A 2013 Dec 5;161A(12):2964-71. Epub 2013 Nov 5.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.36245
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http://dx.doi.org/10.1002/ajmg.a.36245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4419571PMC
December 2013

Using exome data to identify malignant hyperthermia susceptibility mutations.

Anesthesiology 2013 Nov;119(5):1043-53

* Research Associate, † Clinical Specialty Consultant, ‡ Staff Scientist, ‡‡ Branch Chief, Genetic Disease Research Branch, †† Director, National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland. # Research Associate, ** Professor of Human Molecular Genetics, Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom. § Postdoctoral Fellow, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health. Current position: Assistant Member, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida. ‖ Members of the National Institutes of Health Intramural Sequencing Center group are listed in the appendix.

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http://dx.doi.org/10.1097/ALN.0b013e3182a8a8e7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077354PMC
November 2013

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

Hum Mutat 2013 Sep 28;34(9):1242-9. Epub 2013 May 28.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/humu.22350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745514PMC
September 2013

Interpreting secondary cardiac disease variants in an exome cohort.

Circ Cardiovasc Genet 2013 Aug 16;6(4):337-46. Epub 2013 Jul 16.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887521PMC
August 2013

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Am J Hum Genet 2012 Jul 14;91(1):97-108. Epub 2012 Jun 14.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397257PMC
July 2012

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

Am J Hum Genet 2012 Feb 2;90(2):295-300. Epub 2012 Feb 2.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ajhg.2011.11.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276655PMC
February 2012

Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

Am J Med Genet A 2011 Oct 9;155A(10):2516-20. Epub 2011 Sep 9.

Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.

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http://dx.doi.org/10.1002/ajmg.a.34190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183328PMC
October 2011

Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

J Clin Endocrinol Metab 2011 Mar 5;96(3):E528-35. Epub 2011 Jan 5.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1210/jc.2010-2290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3047221PMC
March 2011

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.

Genet Med 2010 Oct;12(10):623-7

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115203PMC
http://dx.doi.org/10.1097/GIM.0b013e3181f07572DOI Listing
October 2010

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

BMC Med Genet 2009 Dec 16;10:137. Epub 2009 Dec 16.

Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/1471-2350-10-137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806267PMC
December 2009

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

BMC Med Genet 2008 Oct 23;9:92. Epub 2008 Oct 23.

Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-9-92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2584628PMC
October 2008

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Hum Mol Genet 2007 Jul 21;16(14):1773-82. Epub 2007 May 21.

Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1093/hmg/ddm125DOI Listing
July 2007

Gonadal mosaicism in severe Pallister-Hall syndrome.

Am J Med Genet A 2004 Jan;124A(3):296-302

Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1002/ajmg.a.20338DOI Listing
January 2004