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The New England journal of medicine, ISSN 1533-4406, 2014, Volume 370, Issue 25, pp. 2418 - 2425
Journal Article
PloS one, ISSN 1932-6203, 2013, Volume 8, Issue 10, p. e76973
... and Dentistry, Charterhouse Square, London, United Kingdom Leslie G. Biesecker Affiliation: Genetic Diseases Research Branch, National Human Genome Research Institute... 
RGS Proteins - genetics | Heart - physiology | Humans | Mutation, Missense | Autonomic Nervous System - physiopathology | Arrhythmias, Cardiac - physiopathology | Heart Rate - drug effects | Myocardium - metabolism | Electrocardiography | G Protein-Coupled Inwardly-Rectifying Potassium Channels - metabolism | Heart Rate - physiology | RGS Proteins - metabolism | Arrhythmias, Cardiac - genetics | Heart - physiopathology | Receptor, Muscarinic M2 - metabolism | Acetylcholine - pharmacology | Sinoatrial Node - physiology | Heart Rate - genetics | Mice, Inbred C57BL | Autonomic Nervous System - physiology | Sinoatrial Node - cytology | Signal Transduction - genetics | G Protein-Coupled Inwardly-Rectifying Potassium Channels - genetics | Mice, Knockout | Animals | Signal Transduction - drug effects | Heart - drug effects | Sinoatrial Node - metabolism | Signal Transduction - physiology | Mice | In Vitro Techniques | Cardiac arrhythmia | Neurosciences | Heart attacks | Arrhythmia | Acetylcholine receptors (muscarinic) | Pathogenesis | Variability | Intracellular signalling | Genomes | Heart function | Proteins | Signal transduction | Control | Sinuses | Fibrillation | Mouse devices | Autonomic nervous system | Sinus | Rodents | Heart diseases | Heart failure | Firing pattern | Genetic disorders | Congenital diseases | Periodicity | Excitability | Cardiomyocytes | Rhythm | Periodic variations | Ablation | Heart rate | Molecular modelling | Digitization | Mutation | Parasympathetic nervous system
Journal Article
American journal of human genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 648 - 651
The topic of incidental variants detected through exome and genome sequencing is controversial, both in clinical practice and in research. The arguments for... 
RETURN | INFORMED-CONSENT | DISCLOSURE | GENETICS & HEREDITY | CHAIR PERSPECTIVES | BIOBANKS | MEDICINE | GENETIC RESEARCH | RESEARCHER | Genetic Variation | Genetics, Medical - methods | Disclosure - trends | Humans | Incidental Findings | Disclosure - ethics | Genomics - methods | Genetic Testing - methods
Journal Article
Genetics in medicine, ISSN 1098-3600, 2017, Volume 19, Issue 12, pp. 1376 - 1379
... Ferrari, BS3 and Leslie G. Biesecker, MD1 Purpose: Proteus syndrome is a rare mosaic overgrowth disorder that is associated with severe complications. While anecdotal... 
AKT1 | Premature death | Kaplan-meier analysis | Overgrowth | Proteus syndrome | overgrowth | MUTATION | GENETICS & HEREDITY | Kaplan-Meier analysis | DEATH | premature death | DIAGNOSTIC-CRITERIA | CHALLENGES | PULMONARY THROMBOEMBOLISM | Young Adult | Proteus Syndrome - mortality | Humans | Adolescent | Kaplan-Meier Estimate | Proteus Syndrome - epidemiology | Child, Preschool | Female | Infant | Male | Child | Infant, Newborn | Mortality | Age
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2014, Volume 164, Issue 7, pp. 1713 - 1733
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2011, Volume 365, Issue 7, pp. 611 - 619
Journal Article
by Green, Robert C and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Burke, Wylie and Caga-anan, Charlisse F and Chinnaiyan, Arul M and Chung, Wendy K and Clayton, Ellen W and Cooper, Gregory M and East, Kelly and Evans, James P and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steven and Kaufman, David and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian D and Manolio, Teri A and McCullough, Laurence and McEwen, Jean and McGuire, Amy and Muzny, Donna and Myers, Richard M and Nickerson, Deborah A and Ou, Jeffrey and Parsons, Donald W and Petersen, Gloria M and Plon, Sharon E and Rehm, Heidi L and Roberts, J. Scott and Robinson, Dan and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Benjamin S and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Amendola, Laura and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Biesecker, Barbara B and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and Carlson, Sara J and Chahin, Nizar and Christensen, Kurt D and Chung, Wendy and Cirino, Allison L and Clayton, Ellen and Conlin, Laura K and Cooper, Greg M and Crosslin, David R and Davis, James V and Davis, Kelly and Deardorff, Matthew A and Devkota, Batsal and De Vries, Raymond and Diamond, Pamela and Dorschner, Michael O and Dugan, Noreen P and Dukhovny, Dmitry and Dulik, Matthew C and East, Kelly M and Rivera-Munoz, Edgar A and Evans, Barbara and Everett, Jessica and Exe, Nicole and ... and the CSER Consortium and CSER Consortium
American journal of human genetics, ISSN 0002-9297, 2016, Volume 98, Issue 6, pp. 1051 - 1066
Journal Article
Nature reviews. Genetics, ISSN 1471-0064, 2012, Volume 13, Issue 11, pp. 818 - 824
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1095 - 1102
Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. The disease locus was... 
MARIE-TOOTH-DISEASE | MENTAL-RETARDATION | GENETICS & HEREDITY | MOTOR-SENSORY NEUROPATHY | DEAFNESS | FACTOR AIF | CELL-DEATH | Neuroimaging | Exons | Humans | Apoptosis - genetics | Male | Muscle, Skeletal - metabolism | Mitochondria - ultrastructure | Charcot-Marie-Tooth Disease - genetics | Hearing Loss, Sensorineural - diagnosis | Mental Retardation, X-Linked - genetics | Apoptosis Inducing Factor - chemistry | Cell Nucleus - metabolism | Mitochondria - genetics | Base Sequence | Mental Retardation, X-Linked - diagnosis | Charcot-Marie-Tooth Disease - metabolism | Apoptosis Inducing Factor - metabolism | Hearing Loss, Sensorineural - metabolism | Oxidation-Reduction | Muscle, Skeletal - ultrastructure | Models, Molecular | Hearing Loss, Sensorineural - genetics | Mitochondria - metabolism | Apoptosis Inducing Factor - genetics | Protein Transport | Magnetic Resonance Imaging | Cell Nucleus - genetics | Pedigree | Brain - pathology | Protein Conformation | Muscle, Skeletal - pathology | Mutation | Charcot-Marie-Tooth Disease - diagnosis | Mental Retardation, X-Linked - metabolism | Charcot joints | Care and treatment | Research | Nucleotide sequencing | Gene mutations | DNA sequencing | Oxidases | Deafness | Nervous system diseases | Neurosciences | Genes | Genomics | Genetic research | Genetic aspects | Mitochondrial DNA | Apoptosis | Report
Journal Article