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The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 831 - 845
ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid... 
de novo variant | optic atrophy | neuropathy | CNV | cardiomyopathy | whole-exome sequencing | ATAD3A | dominant negative | mitochondrial dynamics | LOSS-OF-FUNCTION | DROSOPHILA-MELANOGASTER | GENOMIC DISORDERS | DOMAIN-CONTAINING 3A | GENETICS & HEREDITY | DEVELOPMENTAL DELAY | TRANSMISSION GENETICS | MOLECULAR FINDINGS | OPTIC ATROPHY | CPG DINUCLEOTIDES | COPY-NUMBER VARIATION | Neurons - pathology | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Mitochondrial Proteins - genetics | Nervous System Diseases - genetics | Drosophila melanogaster - genetics | Muscles - pathology | Young Adult | Cardiomyopathies - genetics | Fibroblasts | Adult | Female | Nervous System Diseases - metabolism | Child | Infant, Newborn | Nervous System Diseases - pathology | Optic Atrophy - genetics | ATPases Associated with Diverse Cellular Activities | Muscle Hypotonia - genetics | Membrane Proteins - genetics | DNA Copy Number Variations - genetics | Mitochondria - metabolism | Mitochondria - pathology | Syndrome | Homozygote | Phenotype | Animals | Axons - pathology | Alleles | Polymorphism, Single Nucleotide - genetics | Adenosine Triphosphatases - genetics | Mutation | Allelomorphism | Nervous system diseases | Genetic aspects | Genetic variation | Health aspects | Adenosine triphosphatase | Proteins | Genotype & phenotype | Genetics | Mitochondria | Membranes | Neurological disorders | Index Medicus
Journal Article
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
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... 
Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Mutation | Index Medicus
Journal Article
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A 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 Bellen, Hugo J and Bernstein, Jonathan A 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 Butte, Manish J 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 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 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 Fisher, Paul G 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 Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Purpose: Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES... 
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | REANALYSIS | VARIANTS | GENETICS & HEREDITY | MEDICAL GENETICS | WHOLE GENOME | Bioinformatics | Index Medicus | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 508, Issue 7497, pp. 494 - 499
Journal Article
by Waterston, Robert H and Lindblad-Toh, Kerstin and Birney, Ewan and Rogers, Jane and Abril, Josep F and Agarwal, Pankaj and Agarwala, Richa and Ainscough, Rachel and Alexandersson, Marina and An, Peter and Antonarakis, Stylianos E and Attwood, John and Baertsch, Robert and Bailey, Jonathon and Barlow, Karen and Beck, Stephan and Berry, Eric and Birren, Bruce and Bloom, Toby and Bork, Peer and Botcherby, Marc and Bray, Nicolas and Brent, Michael R and Brown, Daniel G and Brown, Stephen D and Bult, Carol and Burton, John and Butler, Jonathan and Campbell, Robert D and Carninci, Piero and Cawley, Simon and Chiaromonte, Francesca and Chinwalla, Asif T and Church, Deanna M and Clamp, Michele and Clee, Christopher and Collins, Francis S and Cook, Lisa L and Copley, Richard R and Coulson, Alan and Couronne, Olivier and Cuff, James and Curwen, Val and Cutts, Tim and Daly, Mark and David, Robert and Davies, Joy and Delehaunty, Kimberly D and Deri, Justin and Dermitzakis, Emmanouil T and Dewey, Colin and Dickens, Nicholas J and Diekhans, Mark and Dodge, Sheila and Dubchak, Inna and Dunn, Diane M and Eddy, Sean R and Elnitski, Laura and Emes, Richard D and Eswara, Pallavi and Eyras, Eduardo and Felsenfeld, Adam and Fewell, Ginger A and Flicek, Paul and Foley, Karen and Frankel, Wayne N and Fulton, Lucinda A and Fulton, Robert S and Furey, Terrence S and Gage, Diane and Gibbs, Richard A and Glusman, Gustavo and Gnerre, Sante and Goldman, Nick and Goodstadt, Leo and Grafham, Darren and Graves, Tina A and Green, Eric D and Gregory, Simon and Guigó, Roderic and Guyer, Mark and Hardison, Ross C and Haussler, David and Hayashizaki, Yoshihide and LaHillier, Deana W and Hinrichs, Angela and Hlavina, Wratko and Holzer, Timothy and Hsu, Fan and Hua, Axin and Hubbard, Tim and Hunt, Adrienne and Jackson, Ian and Jaffe, David B and Johnson, L. Steven and Jones, Matthew and Jones, Thomas A and Joy, Ann and Kamal, Michael and Karlsson, Elinor K and ... and Mouse Genome Sequencing Consor and Mouse Genome Sequencing Consortium and Joint Genome Institute (JGI) and Naturvetenskapliga fakulteten and Department of Mathematical Statistics and Institutionen för matematisk statistik and Faculty of Sciences and Göteborgs universitet and Gothenburg University
Nature, ISSN 0028-0836, 12/2002, Volume 420, Issue 6915, pp. 520 - 562
Journal Article