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1. Full Text Clinical Interpretation and Implications of Whole-Genome Sequencing
by Dewey, Frederick E and Grove, Megan E and Pan, Cuiping and Goldstein, Benjamin A and Bernstein, Jonathan A and Chaib, Hassan and Merker, Jason D and Goldfeder, Rachel L and Enns, Gregory M and David, Sean P and Pakdaman, Neda and Ormond, Kelly E and Caleshu, Colleen and Kingham, Kerry and Klein, Teri E and Whirl-Carrillo, Michelle and Sakamoto, Kenneth and Wheeler, Matthew T and Butte, Atul J and Ford, James M and Boxer, Linda and Ioannidis, John P. A and Yeung, Alan C and Altman, Russ B and Assimes, Themistocles L and Snyder, Michael and Ashley, Euan A and Quertermous, Thomas
JAMA, ISSN 0098-7484, 03/2014, Volume 311, Issue 10, pp. 1035 - 1045
IMPORTANCE Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of... 
INDIVIDUALS | IMPLEMENTATION CONSORTIUM GUIDELINES | ACMG RECOMMENDATIONS | INCIDENTAL FINDINGS | EXOME | MEDICINE, GENERAL & INTERNAL | GENOTYPE | OF-FUNCTION VARIANTS | DISEASE | MUTATIONS | INSIGHTS | Genetic Predisposition to Disease | Pharmacogenetics | Reproducibility of Results | Humans | Middle Aged | Genotype | Male | Genome, Human - genetics | Genetic Variation | Aged, 80 and over | Adult | Female | Aged | Genes, BRCA1 | Mutation | Sequence Analysis, DNA - methods | Evaluation | Usage | Genetic disorders | Nucleotide sequencing | Diagnosis | DNA sequencing | Medical research | Genomes | Medical disorders | Genes
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2. Full Text Medical implications of technical accuracy in genome sequencing
by Goldfeder, Rachel L and Priest, James R and Zook, Justin M and Grove, Megan E and Waggott, Daryl and Wheeler, Matthew T and Salit, Marc and Ashley, Euan A
Genome Medicine, ISSN 1756-994X, 03/2016, Volume 8, Issue 1, p. 24
Background: As whole exome sequencing (WES) and whole genome sequencing (WGS) transition from research tools to clinical diagnostic tests, it is increasingly... 
DIAGNOSIS | WHOLE-EXOME CAPTURE | DE-NOVO | VARIANTS | CLINICAL-APPLICATIONS | PERFORMANCE | ANNOTATION | MUTATION | GENETICS & HEREDITY | SENSITIVITY | IDENTIFICATION | Computational Biology - methods | Reproducibility of Results | Genetics, Medical - methods | Genetics, Medical - standards | Humans | Genomics - standards | High-Throughput Nucleotide Sequencing - standards | Exome | Genetic Variation | Computational Biology - standards | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Databases, Nucleic Acid | Benchmarks | Genomes | Nucleotide sequencing | Analysis | Genomics | DNA sequencing
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3. Full Text Drosophila Muller F elements maintain a distinct set of genomic properties over 40 million years of evolution
by Leung, Wilson and Shaffer, Christopher D and Reed, Laura K and Smith, Sheryl T and Barshop, William and Dirkes, William and Dothager, Matthew and Lee, Paul and Wong, Jeannette and Xiong, David and Yuan, Han and Bedard, James E.J and Machone, Joshua F and Patterson, Seantay D and Price, Amber L and Turner, Bryce A and Robic, Srebrenka and Luippold, Erin K and McCartha, Shannon R and Walji, Tezin A and Walker, Chelsea A and Saville, Kenneth and Abrams, Marita K and Armstrong, Andrew R and Armstrong, William and Bailey, Robert J and Barberi, Chelsea R and Beck, Lauren R and Blaker, Amanda L and Blunden, Christopher E and Brand, Jordan P and Brock, Ethan J and Brooks, Dana W and Brown, Marie and Butzler, Sarah C and Clark, Eric M and Clark, Nicole B and Collins, Ashley A and Cotteleer, Rebecca J and Cullimore, Peterson R and Dawson, Seth G and Docking, Carter T and Dorsett, Sasha L and Dougherty, Grace A and Downey, Kaitlyn A and Drake, Andrew P and Earl, Erica K and Floyd, Trevor G and Forsyth, Joshua D and Foust, Jonathan D and Franchi, Spencer L and Geary, James F and Hanson, Cynthia K and Harding, Taylor S and Harris, Cameron B and Heckman, Jonathan M and Holderness, Heather L and Howey, Nicole A and Jacobs, Dontae A and Jewell, Elizabeth S and Kaisler, Maria and Karaska, Elizabeth A and Kehoe, James L and Koaches, Hannah C and Koehler, Jessica and Koenig, Dana and Kujawski, Alexander J and Kus, Jordan E and Lammers, Jennifer A and Leads, Rachel R and Leatherman, Emily C and Lippert, Rachel N and Messenger, Gregory S and Morrow, Adam T and NewcombVictoria, Haley J and Plasman, Plasman and Potocny, Stephanie J and Powers, Michelle K and Reem, Rachel M and Rennhack, Jonathan P and Reynolds, Katherine R and Reynolds, Lyndsey A and Rhee, Dong K and Rivard, Allyson B and Ronk, Adam J and Rooney, Meghan B and Rubin, Lainey S and Salbert, Luke R and Saluja, Rasleen K and Schauder, Taylor and Schneiter, Allison R and Schulz, Robert W and Smith, Karl E and Spencer, Sarah and Swanson, Bryant R and Tache, Melissa A and Tewilliager, Ashley A and Tilot, Amanda K and VanEck, Eve and Villerot, Matthew M and ... and Participating Students Fac Genomic
G3: Genes, Genomes, Genetics, ISSN 2160-1836, 2015, Volume 5, Issue 5, pp. 719 - 740
The Muller F element (4.2 Mb, similar to 80 protein-coding genes) is an unusual autosome of Drosophila melanogaster; it is mostly heterochromatic with a low... 
Melting characteristics | Evolution of heterochromatin | Transposons | Gene size | Codon bias | codon bias | RNA INTERFERENCE | DINE-1 TRANSPOSABLE ELEMENTS | melting characteristics | transposons | CODON USAGE BIAS | DOT CHROMOSOME | evolution of heterochromatin | gene size | TANDEM REPEATS | HIGHLY ABUNDANT | GENETICS & HEREDITY | SEQUENCED GENOMES | MELANOGASTER CHROMOSOME-4 | HETEROCHROMATIN FORMATION | ROLLING-CIRCLE TRANSPOSONS | Polytene Chromosomes | Species Specificity | Exons | Introns | Genomics | Molecular Sequence Annotation | Computational Biology | Selection, Genetic | Drosophila melanogaster - genetics | DNA Transposable Elements | Heterochromatin | Animals | Codon | Gene Rearrangement | Repetitive Sequences, Nucleic Acid | Drosophila Proteins - genetics | Genome | Drosophila - genetics | Evolution, Molecular
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4. Full Text Clinically impactful differences in variant interpretation between clinicians and testing laboratories: A single-center experience
by Bland, Austin and Harrington, Elizabeth A and Dunn, Kyla and Pariani, Mitchel and Platt, Julia C. K and Grove, Megan E and Caleshu, Colleen
Genetics in Medicine, ISSN 1098-3600, 03/2018, Volume 20, Issue 3, pp. 369 - 373
Purpose: To describe the frequency and nature of differences in variant classifications between clinicians and genetic testing laboratories. Methods:... 
genetic counseling | cardiovascular genetics | variant classification | interpretation | genetic testing | GUIDELINES | GENETICS & HEREDITY | GENETIC-VARIANTS | PATHOLOGY | Testing laboratories | Classification
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5. Full Text Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
by Dewey, Frederick E and Grove, Megan E and Priest, James R and Waggott, Daryl and Batra, Prag and Miller, Clint L and Wheeler, Matthew and Zia, Amin and Pan, Cuiping and Karzcewski, Konrad J and Miyake, Christina and Whirl-Carrillo, Michelle and Klein, Teri E and Datta, Somalee and Altman, Russ B and Snyder, Michael and Quertermous, Thomas and Ashley, Euan A
PLoS Genetics, ISSN 1553-7390, 2015, Volume 11, Issue 10, p. e1005496
High throughput sequencing has facilitated a precipitous drop in the cost of genomic sequencing, prompting predictions of a revolution in medicine via genetic... 
DE-NOVO MUTATIONS | DISEASE | GENETICS & HEREDITY | DISORDERS | GENETIC-VARIANTS | LONG-QT SYNDROME | WIDE ASSOCIATION | TOOL | Arrhythmias, Cardiac - pathology | Genetic Variation | Genetic Predisposition to Disease | Phenotype | Plasma Membrane Calcium-Transporting ATPases - genetics | Base Sequence | Humans | Genotype | Chromosome Mapping | Genome, Human | Sequence Analysis, DNA | Arrhythmias, Cardiac - genetics | Cardiac arrhythmia | Annotations | Disease | Genes | Deoxyribonucleic acid | DNA | Genomes | Heuristic
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6. Full Text Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Diseases Network and Medicinska fakulteten and Klinisk epidemiologi and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene . The current... 
Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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7. Full Text Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification
by Reuter, Chloe and Reuter, Chloe and Grove, Megan E and Grove, Megan E and Orland, Kate and Orland, Kate and Spoonamore, Katherine and Spoonamore, Katherine and Caleshu, Colleen and Caleshu, Colleen
Journal of Genetic Counseling, ISSN 1059-7700, 8/2018, Volume 27, Issue 4, pp. 751 - 760
We sought to delineate the genetic test review and interpretation practices of clinical cardiovascular genetic counselors. A one-time anonymous online survey... 
Human Genetics | Ethics | Public Health | Biomedicine | Genetic counseling | Cardiovascular | Gynecology | Variant classification | Genetic counselor | Clinical Psychology | Genetic testing | Interpretation | CLINVAR | SOCIAL SCIENCES, BIOMEDICAL | GUIDELINES | CANCER | CARE | HYPERTROPHIC CARDIOMYOPATHY | PATHOGENICITY | FAMILIES | GENETICS & HEREDITY | LABORATORIES | HEALTH POLICY & SERVICES | PERSONALIZED MEDICINE | REASSESSMENT | Uncertainty | Genetic Testing | Humans | Genetic Counseling - methods | Adult | Surveys and Questionnaires | Job Description | Professional Role | Cardiovascular Diseases - genetics | Counselors - psychology | Medical colleges | Health care industry | Genetic screening | Medical genetics | Cardiovascular agents | Proximity | Laboratories | Cardiologists | Clinical practice | Reclassification | Variants | Team work | Classification | Interdisciplinary team work | Health risk assessment | Interdisciplinary approach | Genetic counselling | Expertise
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8. Full Text Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing
by Priest, James R., MD and Ceresnak, Scott R., MD and Dewey, Frederick E., MD and Malloy-Walton, Lindsey E., DO and Dunn, Kyla, MS and Grove, Megan E., MS and Perez, Marco V., MD and Maeda, Katsuhide, MD, PhD and Dubin, Anne M., MD, FHRS and Ashley, Euan A., MRCP, DPhil
Heart Rhythm, ISSN 1547-5271, 2014, Volume 11, Issue 10, pp. 1707 - 1713
Background The advent of clinical next generation sequencing is rapidly changing the landscape of rare disease medicine. Molecular diagnosis of long QT... 
Cardiovascular | Long QT syndrome | Perinatal | Pediatrics | Genetics | Whole genome sequencing | Genomics | Diagnosis, Differential | Molecular Diagnostic Techniques - methods | Follow-Up Studies | Humans | Genotype | Genetic Markers | Death, Sudden, Cardiac | Long QT Syndrome - therapy | DNA - genetics | Long QT Syndrome - diagnosis | Time Factors | Defibrillators, Implantable | Electrocardiography | Long QT Syndrome - genetics | Female | High-Throughput Nucleotide Sequencing | Mutation | Infant, Newborn | Medical colleges | Diagnosis | Nucleotide sequencing | DNA sequencing | whole genome sequencing | genomics | genetics | perinatal | pediatrics
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9. Full Text Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction
by Rhee, June-Wha and Grove, Megan E and Ashley, Euan A
Circulation: Cardiovascular Genetics, ISSN 1942-325X, 08/2017, Volume 10, Issue 4, pp. e001857 - e001857
consensus | heart failure | Editorials | myocardium | genetics | gadolinium | MOLECULAR-GENETICS | DIAGNOSIS | CARDIOMYOPATHY | GENETICS & HEREDITY | MAGNETIC-RESONANCE | NON-COMPACTION | MUTATIONS | Uncertainty | Genetic Association Studies | Heart Defects, Congenital | Humans | Isolated Noncompaction of the Ventricular Myocardium | Heart | Ventricle
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10. Full Text Views of Genetics Health Professionals on the Return of Genomic Results
by Grove, Megan E and Grove, Megan E and Wolpert, Maya N and Wolpert, Maya N and Cho, Mildred K and Cho, Mildred K and Lee, Sandra Soo-Jin and Lee, Sandra Soo-Jin and Ormond, Kelly E and Ormond, Kelly E
Journal of Genetic Counseling, ISSN 1059-7700, 8/2014, Volume 23, Issue 4, pp. 531 - 538
As exome and whole genome sequencing become clinically available, the potential to receive a large number of clinically relevant but incidental results is a... 
Human Genetics | Public Health | Whole genome sequencing | Patient autonomy | Gynecology | Professional attitudes | Clinical Psychology | Return of results | Ethics | Biomedicine | Whole exome sequencing | Pretest counseling | Informed consent | CLINICAL-APPLICATION | CHALLENGES | INCIDENTAL FINDINGS | PERSPECTIVES | GENETICS & HEREDITY | WANT | Attitude of Health Personnel | Genetic Testing | Genetic Counseling | Humans | Genetics, Medical - manpower | Medical personnel | Bioethics | Pharmacogenetics | Nucleotide sequencing | DNA sequencing | Attitudes | Genetic counseling | Genetic testing | return of results | pretest counseling | informed consent | patient autonomy | whole exome sequencing | professional attitudes
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11. Full Text Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
by Oláhová, Monika and Yoon, Wan Hee and Thompson, Kyle and Jangam, Sharayu and Fernandez, Liliana and Davidson, Jean M and Kyle, Jennifer E and Grove, Megan E and Fisk, Dianna G and Kohler, Jennefer N and Holmes, Matthew and Dries, Annika M and Huang, Yong and Zhao, Chunli and Contrepois, Kévin and Zappala, Zachary and Frésard, Laure and Waggott, Daryl and Zink, Erika M and Kim, Young-Mo and Heyman, Heino M and Stratton, Kelly G and Webb-Robertson, Bobbie-Jo M and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Kohane, Isaac S and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Lalani, Seema R and Lau, C. Christopher and Lazar, Jozef and ... and Undiagnosed Diseases Network and Pacific Northwest National Lab. (PNNL), Richland, WA (United States)
The American Journal of Human Genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 494 - 504
ATP synthase, H transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important... 
ATP synthase | exome sequencing | fibroblast | model organism | complex V | lactic acidosis | hyperammonemia | mitochondrial disease | oxidative phosphorylation | 3-methylglutaric aciduria | DIAGNOSIS | GENETIC-DEFECTS | COMPLEX-V DEFICIENCY | CARDIOMYOPATHY | GENETICS & HEREDITY | PATIENT | MITOCHONDRIAL DISEASE | EXPRESSION | ONSET | Amino Acid Sequence | Humans | Child, Preschool | Infant | Male | Mitochondria - metabolism | Mitochondrial Proton-Translocating ATPases - chemistry | Mutation - genetics | Mitochondria - ultrastructure | Mitochondrial Proton-Translocating ATPases - genetics | Base Sequence | Alleles | Metabolic Diseases - genetics | Female | Protein Subunits - chemistry | Child | Infant, Newborn | Loss of Function Mutation - genetics | Protein Subunits - genetics | BASIC BIOLOGICAL SCIENCES | 60 APPLIED LIFE SCIENCES | Report
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