Jonathan Berg

Jonathan Berg

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Jonathan Berg

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Comparison of Physiological and Perceptual Responses to Upper-, Lower-, and Whole-Body Exercise in Elite Cross-Country Skiers.

J Strength Cond Res 2019 Apr;33(4):1086-1094

Department of Neuromedicine and Movement Science, Center for Elite Sports Research, Norwegian University of Science and Technology, Trondheim, Norway.

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http://dx.doi.org/10.1519/JSC.0000000000003078DOI Listing
April 2019

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

Am J Med Genet A 2019 Mar 13;179(3):344-349. Epub 2019 Jan 13.

South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.61024DOI Listing
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

Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.

Am J Med Genet A 2019 01 17;179(1):43-49. Epub 2018 Dec 17.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.

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http://doi.wiley.com/10.1002/ajmg.a.60678
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http://dx.doi.org/10.1002/ajmg.a.60678DOI Listing
January 2019

Analytical evidence to show letters impregnated with novel psychoactive substances are a means of getting drugs to inmates within the UK prison service.

Ann Clin Biochem 2018 Nov 30;55(6):673-678. Epub 2018 Mar 30.

SWBH NHS Trust, Birmingham, West Midlands, UK.

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http://dx.doi.org/10.1177/0004563218767462DOI Listing
November 2018

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.

Hum Mutat 2018 11 5;39(11):1531-1541. Epub 2018 Sep 5.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1002/humu.23609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548460PMC
November 2018

The progression of the ClinGen gene clinical validity classification over time.

Hum Mutat 2018 11;39(11):1494-1504

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/humu.23604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6190678PMC
November 2018

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.

Genet Med 2018 09 10;20(9):918-926. Epub 2018 Jul 10.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/s41436-018-0100-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679919PMC
September 2018

Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening.

Per Med 2018 09 27;15(5):343-346. Epub 2018 Sep 27.

Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599-7264, USA.

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https://www.futuremedicine.com/doi/10.2217/pme-2018-0041
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http://dx.doi.org/10.2217/pme-2018-0041DOI Listing
September 2018

Pathogenicity and Penetrance of Germline Variants in Pheochromocytoma and Paraganglioma (PPGL).

J Endocr Soc 2018 Jul 18;2(7):806-816. Epub 2018 Jun 18.

Division of Molecular & Clinical Medicine, Ninewells Hospital & Medical School, University of Dundee, Dundee, Scotland.

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http://dx.doi.org/10.1210/js.2018-00120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030830PMC
July 2018

Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease.

Am J Psychiatry 2018 05;175(5):400-407

From the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Department of Neurology, Geisinger Health System, Wilkes-Barre, Pa.; Translational Neuroscience, Conshohocken, Pa.; the Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston; the Department of Pathology and Laboratory Medicine and the Department of Psychiatry, University of British Columbia, Vancouver; and the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm.

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http://dx.doi.org/10.1176/appi.ajp.2017.17060638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5935124PMC
May 2018

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Neurol Genet 2018 Feb 1;4(1):e212. Epub 2018 Feb 1.

Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.

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http://dx.doi.org/10.1212/NXG.0000000000000212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798313PMC
February 2018

Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

J Endocr Soc 2017 Dec 15;1(12):1507-1526. Epub 2017 Nov 15.

Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 7LJ United Kingdom.

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http://dx.doi.org/10.1210/js.2017-00330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740525PMC
December 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Genetic screening: birthright or earned with age?

Expert Rev Mol Diagn 2017 08 29;17(8):735-738. Epub 2017 Jun 29.

a Department of Genetics , University of North Carolina at Chapel Hill , Chapel Hill , NC , USA.

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http://dx.doi.org/10.1080/14737159.2017.1346473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086349PMC
August 2017

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

Circ Cardiovasc Genet 2017 Jun;10(3)

From the Department of Pathology, Duke University, Durham, NC (G.T.H.); Division of Cardiology (B.C.J.), McAllister Heart Institute (B.C.J., L.A.S., W.H., J.L.), Department of Cell and Molecular Physiology (L.A.S., W.H., J.L.), Department of Genetics (D.M., C.S., C.T., B.A.S., E.A.R.-M., B.K., K.C.W., K.E.W., J.P.E., J.S.B.), Department of Pathology and Laboratory Medicine (J.L., K.E.W.), UNC School of Medicine, Chapel Hill; Renaissance Computing Institute, Chapel Hill, NC (K.C.W.); and ECU Heart Institute, Brody School of Medicine, Greenville, NC (H.A.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5497793PMC
June 2017

Self-administration of vitamin D supplements in the general public may be associated with high 25-hydroxyvitamin D concentrations.

Ann Clin Biochem 2017 May 15;54(3):355-361. Epub 2016 Jul 15.

Clinical Biochemistry, City Hospital, Sandwell and West Birmingham NHS Trust, Birmingham, UK.

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http://journals.sagepub.com/doi/10.1177/0004563216662073
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http://dx.doi.org/10.1177/0004563216662073DOI Listing
May 2017

Finding the Rare Pathogenic Variants in a Human Genome.

JAMA 2017 05;317(18):1904-1905

Department of Genetics, University of North Carolina at Chapel Hill.

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http://dx.doi.org/10.1001/jama.2017.0432DOI Listing
May 2017

Exploring the importance of case-level clinical information for variant interpretation.

Authors:
Jonathan S Berg

Genet Med 2017 01 25;19(1):3-5. Epub 2016 Aug 25.

Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2016.106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225022PMC
January 2017

1-Adamantylamine a simple urine marker for screening for third generation adamantyl-type synthetic cannabinoids by ultra-performance liquid chromatography tandem mass spectrometry.

Ann Clin Biochem 2016 Nov 28;53(6):640-646. Epub 2016 Sep 28.

Department Clinical Biochemistry, City Hospital, Birmingham, UK.

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http://dx.doi.org/10.1177/0004563216628892DOI Listing
November 2016

Genome-wide association study of sporadic brain arteriovenous malformations.

J Neurol Neurosurg Psychiatry 2016 09 27;87(9):916-23. Epub 2016 Jan 27.

Department of Anesthesia and Perioperative Care, Center for Cerebrovascular Research, University of California, San Francisco, California, USA Department of Epidemiology and Biostatistics, University of California, San Francisco, California, USA Institute for Human Genetics, University of California, San Francisco, California, USA.

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http://dx.doi.org/10.1136/jnnp-2015-312272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963303PMC
September 2016

A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research.

Genome Med 2016 Sep 21;8(1):95. Epub 2016 Sep 21.

Department of Genetics, CB # 7264, University of North Carolina, Chapel Hill, NC, 27599, USA.

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http://genomemedicine.biomedcentral.com/articles/10.1186/s13
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http://dx.doi.org/10.1186/s13073-016-0351-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031300PMC
September 2016

Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.

Annu Rev Genomics Hum Genet 2016 08 26;17:303-32. Epub 2016 May 26.

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599; email: ,

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http://dx.doi.org/10.1146/annurev-genom-083115-022348DOI Listing
August 2016

Serum trough infliximab and anti-infliximab antibodies in a cohort of gastroenterology and rheumatology patients' infliximab therapeutic drug monitoring.

Ann Clin Biochem 2016 Jul 19;53(Pt 4):477-84. Epub 2015 Aug 19.

Department of Clinical Biochemistry, Sandwell and West Birmingham Hospitals NHS Trust, West Midlands, UK.

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http://dx.doi.org/10.1177/0004563215604866DOI Listing
July 2016

Five-year review of a UK 24 hour testing service for plasma ethylene glycol and diethylene glycol.

Ann Clin Biochem 2016 Jul 4;53(Pt 4):459-65. Epub 2015 Sep 4.

Department Clinical Biochemistry, City Hospital, Birmingham, UK.

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http://dx.doi.org/10.1177/0004563215603731DOI Listing
July 2016

The promise and peril of genomic screening in the general population.

Genet Med 2016 06 5;18(6):593-9. Epub 2015 Nov 5.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2015.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860183PMC
June 2016

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.

Eur J Med Genet 2016 Jun 28;59(6-7):310-4. Epub 2016 Apr 28.

Department of Gene Technology, Tallinn University of Technology, Akadeemia tee 15, Tallinn, 12618, Estonia.

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http://dx.doi.org/10.1016/j.ejmg.2016.04.003DOI Listing
June 2016

A New Framework and Prototype Solution for Clinical Decision Support and Research in Genomics and Other Data-intensive Fields of Medicine.

EGEMS (Wash DC) 2016 19;4(1):1198. Epub 2016 Apr 19.

Department of Computer Science, University of North Carolina at Chapel Hill; Renaissance Computing Institute, University of North Carolina at Chapel Hill.

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http://dx.doi.org/10.13063/2327-9214.1198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862762PMC
May 2016

Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening.

Cold Spring Harb Perspect Med 2015 Oct 5;5(12). Epub 2015 Oct 5.

Departments of Pediatrics and Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599-7264.

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http://dx.doi.org/10.1101/cshperspect.a023150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4665041PMC
October 2015

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

Am J Ophthalmol 2015 Aug 22;160(2):354-363.e9. Epub 2015 Apr 22.

Department of Ophthalmology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1016/j.ajo.2015.04.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506879PMC
August 2015

Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice.

Curr Genet Med Rep 2015;3(4):166-176. Epub 2015 Aug 25.

Department of Genetics, The University of North Carolina at Chapel Hill, 120 Mason Farm Road, Chapel Hill, NC 27599-7264 USA.

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http://link.springer.com/10.1007/s40142-015-0075-9
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http://dx.doi.org/10.1007/s40142-015-0075-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633435PMC
August 2015

Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews.

Genet Med 2015 Jun 18;17(6):441-3. Epub 2014 Sep 18.

1] Center for Genomics and Society, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [2] Department of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2014.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387105PMC
June 2015

Look before you leap: genomic screening in obstetrics and gynecology.

Obstet Gynecol 2015 Jun;125(6):1299-305

Department of Genetics and the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and the Department of Obstetrics, Gynecology, and Surgery, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1097/AOG.0000000000000871DOI Listing
June 2015

ClinGen--the Clinical Genome Resource.

N Engl J Med 2015 06 27;372(23):2235-42. Epub 2015 May 27.

From Harvard Medical School and Brigham and Women's Hospital and Partners HealthCare - all in Boston (H.L.R.); University of North Carolina, Chapel Hill (J.S.B., J.P.E.); National Human Genome Research Institute, National Institutes of Health (NIH) (L.D.B., E.M.R.), National Center for Biotechnology Information, National Library of Medicine, NIH (M.J.L., D.R.M., S.T.S.), and American College of Medical Genetics and Genomics (M.S.W.) - all in Bethesda, MD; Stanford University School of Medicine, Stanford (C.D.B.), and University of California, San Francisco, San Francisco (R.L.N.) - both in California; Geisinger Health System, Danville, PA (D.H.L., C.L.M.); and Baylor College of Medicine, Houston (S.E.P.).

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http://dx.doi.org/10.1056/NEJMsr1406261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474187PMC
June 2015

β2-Adrenergic receptor Gly16Arg polymorphism and impaired asthma control in corticosteroid-treated asthmatic adults.

Ann Allergy Asthma Immunol 2015 May 3;114(5):421-3. Epub 2015 Mar 3.

Scottish Centre for Respiratory Research, University of Dundee, Dundee, Scotland.

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http://dx.doi.org/10.1016/j.anai.2015.01.017DOI Listing
May 2015

How can psychological science inform research about genetic counseling for clinical genomic sequencing?

J Genet Couns 2015 Apr 9;24(2):193-204. Epub 2014 Dec 9.

Department of Health Behavior, University of North Carolina-Chapel Hill, 312 Rosenau Hall, CB#7440, Chapel Hill, NC, 27599-7440, USA,

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http://link.springer.com/10.1007/s10897-014-9804-6
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http://dx.doi.org/10.1007/s10897-014-9804-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4777349PMC
April 2015

Erratum to: How can psychological science inform research about genetic counseling for clinical genomic sequencing?

J Genet Couns 2015 Apr;24(2):372

Department of Health Behavior, University of North Carolina-Chapel Hill, 312 Rosenau Hall, CB#7440, Chapel Hill, NC, 27599-7440, USA,

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http://dx.doi.org/10.1007/s10897-014-9814-4DOI Listing
April 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;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.

Front Genet 2015 12;6:67. Epub 2015 Mar 12.

Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco San Francisco, CA, USA ; Institute of Human Genetics, University of California, San Francisco San Francisco, CA, USA ; Department of Anatomy, University of California, San Francisco San Francisco, CA, USA.

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http://dx.doi.org/10.3389/fgene.2015.00067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357294PMC
March 2015

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

J Med Genet 2015 Feb 19;52(2):128-34. Epub 2014 Dec 19.

Institute of Biological Chemistry, Biophysics and Bioengineering, School of Engineering and Physical Sciences, Heriot Watt University, Edinburgh, UK Division of Cell Signalling and Immunology, College of Life Sciences, University of Dundee, Dundee, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316932PMC
February 2015

Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value.

Authors:
Jonathan S Berg

JAMA 2014 Nov;312(18):1865-7

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill.

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http://dx.doi.org/10.1001/jama.2014.14665DOI Listing
November 2014

Germline FH mutations presenting with pheochromocytoma.

J Clin Endocrinol Metab 2014 Oct 8;99(10):E2046-50. Epub 2014 Jul 8.

Department of Medical Genetics (G.R.C., E.R.M.), University of Cambridge and National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, United Kingdom; Medical Research Council (MRC) Cancer Unit (M.S., E.G., C.F.), University of Cambridge, Hutchison/MRC Research Centre, Cambridge CB2 0XZ, United Kingdom; Centre for Rare Diseases and Personalized Medicine (D.M.W., G.K., E.R.W.), University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom; West Midlands Regional Genetics Service (G.K., E.R.W.), Birmingham Women's Hospital, Birmingham B15 2TG, United Kingdom; Division of Genetics and Molecular Medicine (M.A.S., R.C.T.), King's College London School of Medicine, Guy's Hospital, London WC2R 2LS, United Kingdom; Department of Clinical Genetics (J.N.B.), University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, United Kingdom; Department of Clinical Genetics (E.K.), Royal Hospital for Sick Children (Yorkhill), Glasgow G3 8SJ, United Kingdom; and Department of Medical Genetics (P.J.M.), Queen's University Belfast, Belfast Health and Social Care Trust, Belfast BT9 7AB, United Kingdom.

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http://dx.doi.org/10.1210/jc.2014-1659DOI Listing
October 2014

Dnmt3a and Dnmt3b have overlapping and distinct functions in hematopoietic stem cells.

Cell Stem Cell 2014 Sep 14;15(3):350-364. Epub 2014 Aug 14.

Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA; Stem Cell and Regenerative Medicine Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. Electronic address:

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http://www.cell.com/cms/attachment/2025481291/2044942541/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S193459091400266
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http://dx.doi.org/10.1016/j.stem.2014.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4163922PMC
September 2014

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects.

Clin Epigenetics 2014 4;6(1):11. Epub 2014 Jun 4.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK ; Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1186/1868-7083-6-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064264PMC
July 2014

Long-term risk of medical conditions associated with breast cancer treatment.

Breast Cancer Res Treat 2014 May 3;145(1):233-43. Epub 2014 Apr 3.

Department of Internal Medicine and Cancer Research and Treatment Center, University of New Mexico, MSC 10-5550, Albuquerque, NM, 87131-0001, USA,

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http://dx.doi.org/10.1007/s10549-014-2928-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096572PMC
May 2014