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1. Full Text Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
by Amendola, Laura M and Jarvik, Gail P and Leo, Michael C and McLaughlin, Heather M and Akkari, Yassmine and Amaral, Michelle D and Berg, Jonathan S and Biswas, Sawona and Bowling, Kevin M and Conlin, Laura K and Cooper, Greg M and Dorschner, Michael O and Dulik, Matthew C and Ghazani, Arezou A and Ghosh, Rajarshi and Green, Robert C and Hart, Ragan and Horton, Carrie and Johnston, Jennifer J and Lebo, Matthew S and Milosavljevic, Aleksandar and Ou, Jeffrey and Pak, Christine M and Patel, Ronak Y and Punj, Sumit and Richards, Carolyn Sue and Salama, Joseph and Strande, Natasha T and Yang, Yaping and Plon, Sharon E and Biesecker, Leslie G and Rehm, Heidi L
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1067 - 1076
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evidence that laboratories consider. Deciding how to weigh each... 
TESTS | GENE | SPASTIC PARAPLEGIA | RECOMMENDATIONS | MUTATION | GENETICS & HEREDITY | PHENOTYPE | STANDARDS | SPG7 | Laboratories - standards | Data Interpretation, Statistical | Guidelines as Topic | Evidence-Based Practice | Genetic Testing - standards | United States | Humans | Incidental Findings | Sequence Analysis, DNA - standards | Mutation - genetics | Exome - genetics | Biomedical Research | Genetic Variation - genetics | Software | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Physiological aspects | Genetic research | Nucleotide sequencing | Methods | Mitogen-activated protein kinases | DNA sequencing | Comparative analysis | Genes | Genomics | Classification | Index Medicus
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2. Full Text Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians
by Dulik, Matthew C and Zhadanov, Sergey I and Osipova, Ludmila P and Askapuli, Ayken and Gau, Lydia and Gokcumen, Omer and Rubinstein, Samara and Schurr, Theodore G
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 229 - 246
The Altai region of southern Siberia has played a critical role in the peopling of northern Asia as an entry point into Siberia and a possible homeland for... 
GENETIC-STRUCTURE | MUTATION-RATE | CONTROL-REGION | NEW-WORLD | GENETICS & HEREDITY | CENTRAL-ASIAN POPULATIONS | SOUTH-AMERICA | MTDNA VARIATION | FOUNDER LINEAGES | EVOLUTIONARY HISTORY | SIBERIAN POPULATIONS | Geography | Haplotypes | Humans | Phylogeography | Asian Continental Ancestry Group - genetics | Male | Phylogeny | DNA, Mitochondrial - blood | Genetic Variation | Chromosomes, Human, Y | DNA, Mitochondrial - genetics | Indians, North American - genetics | Siberia | Female | Genetic research | Mitochondrial DNA | Native Americans | Chromosomes | Analysis | Native peoples | Genealogy | Genomics | Index Medicus
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3. Full Text Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans
by Brotherton, Paul and Haak, Wolfgang and Templeton, Jennifer and Brandt, Guido and Soubrier, Julien and Jane Adler, Christina and Richards, Stephen M and Sarkissian, Clio Der and Ganslmeier, Robert and Friederich, Susanne and Dresely, Veit and Van Oven, Mannis and Kenyon, Rosalie and Van Der Hoek, Mark B and Korlach, Jonas and Luong, Khai and Ho, Simon Y.W and Quintana-Murci, Lluis and Behar, Doron M and Meller, Harald and Alt, Kurt W and Cooper, Alan and Adhikarla, Syama and Ganesh Prasad, Arun Kumar and Pitchappan, Ramasamy and Varatharajan Santhakumari, Arun and Balanovska, Elena and Balanovsky, Oleg and Bertranpetit, Jaume and Comas, David and Martínez-Cruz, Begoña and Melé, Marta and Clarke, Andrew C and Matisoo-Smith, Elizabeth A and Dulik, Matthew C and Gaieski, Jill B and Owings, Amanda C and Schurr, Theodore G and Vilar, Miguel G and Hobbs, Angela and Soodyall, Himla and Javed, Asif and Parida, Laxmi and Platt, Daniel E and Royyuru, Ajay K and Jin, Li and Li, Shilin and Kaplan, Matthew E and Merchant, Nirav C and John Mitchell, R and Renfrew, Colin and Lacerda, Daniela R and Santos, Fabrício R and Soria Hernanz, David F and Spencer Wells, R and Swamikrishnan, Pandikumar and Tyler-Smith, Chris and Paulo Vieira, Pedro and Ziegle, Janet S and Genographic Consortium and The Genographic Consortium
Nature Communications, ISSN 2041-1723, 2013, Volume 4, Issue 1, pp. 1764 - 1764
Haplogroup H dominates present-day Western European mitochondrial DNA variability (>40%), yet was less common (similar to 19%) among Early Neolithic farmers... 
POPULATION | NEAR-EASTERN | 1ST FARMERS | DISSECTION | MULTIDISCIPLINARY SCIENCES | PHYLOGENETIC TREE | SUPPORTS | SEQUENCE | ANCIENT DNA | SELECTION | HUNTER-GATHERERS | Genetics, Population | European Continental Ancestry Group - genetics | Demography | Humans | Genome, Mitochondrial - genetics | Molecular Sequence Data | Phylogeny | Sequence Analysis, DNA | Genome, Human - genetics | Haplotypes - genetics | Time Factors | Base Sequence | Principal Component Analysis | Evolution, Molecular | Index Medicus | Europeus | Haplotip | Filogènia | ADN mitocondrial | Genoma humà | Neolític
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4. Full Text Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
by Amendola, Laura M and Jarvik, Gail P and Leo, Michael C and McLaughlin, Heather M and Akkari, Yassmine and Amaral, Michelle D and Berg, Jonathan S and Biswas, Sawona and Bowling, Kevin M and Conlin, Laura K and Cooper, Greg M and Dorschner, Michael O and Dulik, Matthew C and Ghazani, Arezou A and Ghosh, Rajarshi and Green, Robert C and Hart, Ragan and Horton, Carrie and Johnston, Jennifer J and Lebo, Matthew S and Milosavljevic, Aleksandar and Ou, Jeffrey and Pak, Christine M and Patel, Ronak Y and Punj, Sumit and Richards, Carolyn Sue and Salama, Joseph and Strande, Natasha T and Yang, Yaping and Plon, Sharon E and Biesecker, Leslie G and Rehm, Heidi L
The American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 247 - 247
GENETICS & HEREDITY
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5. Full Text Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
by Green, Robert C and Green, Robert and Goddard, Katrina and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Amendola, Laura and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Barbara B 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 Chung, Wendy and Clayton, Ellen and Clayton, Ellen W and Cooper, Greg M and Cooper, Gregory M and East, Kelly and East, Kelly M and Evans, James P and Evans, Barbara and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, David E and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle and Lewis, Katie and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steve and Joffe, Steven and Kaufman, Dave and Kaufman, David and Knoppers, Bartha and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian 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, Will and Parsons, Donald W and Petersen, Gloria and Petersen, Gloria M and Plon, Sharon and Plon, Sharon E and Rehm, Heidi L and Roberts, Scott and Roberts, J. Scott and Robinson, Marguerite E and Robinson, Jill O and Robinson, Dan and Salama, Joseph and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Shirts, Brian H and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Ben and Wilfond, Benjamin S and Wilhelmsen, Kirk C and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and ... and CSER Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1051 - 1066
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and... 
RESEARCH PARTICIPANTS | ACMG RECOMMENDATIONS | PERCEIVED UTILITY | BEHAVIORAL ECONOMICS | GENETICS & HEREDITY | WHOLE-EXOME | INCIDENTAL-FINDINGS | MEDSEQ PROJECT | OBTAINING INFORMED-CONSENT | ELECTRONIC HEALTH RECORD | GENETIC RESEARCH FINDINGS | Evidence-Based Practice | United States | Humans | Clinical Trials as Topic | Cardiovascular Diseases - genetics | Exome - genetics | National Human Genome Research Institute (U.S.) | Polymorphism, Single Nucleotide - genetics | Adult | Biomedical Research | Population Groups | Software | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Child | Genetic research | Nucleotide sequencing | Methods | DNA sequencing | Medical diagnosis | Electronic health records | Genomics | Genes | Children & youth | Index Medicus
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6. Full Text Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
by Izumi, Kosuke and Nakato, Ryuichiro and Zhang, Zhe and Edmondson, Andrew C and Noon, Sarah and Dulik, Matthew C and Rajagopalan, Ramakrishnan and Venditti, Charles P and Gripp, Karen and Samanich, Joy and Zackai, Elaine H and Deardorff, Matthew A and Clark, Dinah and Allen, Julian L and Dorsett, Dale and Misulovin, Ziva and Komata, Makiko and Bando, Masashige and Kaur, Maninder and Katou, Yuki and Shirahige, Katsuhiko and Krantz, Ian D
Nature Genetics, ISSN 1061-4036, 04/2015, Volume 47, Issue 4, pp. 338 - 344
Transcriptional elongation is critical for gene expression regulation during embryogenesis. The super elongation complex (SEC) governs this process by... 
CELLS | GENE | ACETYLATION | NOVO MUTATIONS | GENETICS & HEREDITY | TRANSCRIPTION ELONGATION | DE-LANGE-SYNDROME | LEUKEMIA | BROMODOMAIN PROTEIN BRD4 | P-TEFB | AF4 | Amino Acid Sequence | Genetic Predisposition to Disease | Chromosomal Proteins, Non-Histone - metabolism | Humans | Cell Cycle Proteins - metabolism | Repressor Proteins - genetics | Male | Multiprotein Complexes - genetics | Mutation, Missense | Transcriptional Elongation Factors - metabolism | Multiprotein Complexes - metabolism | HEK293 Cells | Germ-Line Mutation | Female | Transcriptional Elongation Factors - genetics | HeLa Cells | DNA-Directed RNA Polymerases - metabolism | Child | De Lange Syndrome - genetics | Translation elongation factors | Gene mutations | Genetic research | Research | Properties | Genetic translation | Identification and classification | Health aspects | Proteins | Phosphorylation | Hypotheses | Genetic disorders | Skin | Genomes | Mutation | Gene expression | Index Medicus
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7. Full Text Actionable exomic incidental findings in 6503 participants: Challenges of variant classification
by Amendola, Laura M and Dorschner, Michael O and Robertson, Peggy D and Salama, Joseph S and Hart, Ragan and Shirts, Brian H and Murray, Mitzi L and Tokita, Mari J and Gallego, Carlos J and Kim, Daniel Seung and Bennett, James T and Crosslin, David R and Ranchalis, Jane and Jones, Kelly L and Rosenthal, Elisabeth A and Jarvik, Ella R and Itsara, Andy and Turner, Emily H and Herman, Daniel S and Schleit, Jennifer and Burt, Amber and Jamal, Seema M and Abrudan, Jenica L and Johnson, Andrew D and Conlin, Laura K and Dulik, Matthew C and Santani, Avni and Metterville, Danielle R and Kelly, Melissa and Foreman, Ann Katherine M and Lee, Kristy and Taylor, Kent D and Guo, Xiuqing and Crooks, Kristy and Kiedrowski, Lesli A and Raffel, Leslie J and Gordon, Ora and Machini, Kalotina and Desnick, Robert J and Biesecker, Leslie G and Lubitz, Steven A and Mulchandani, Surabhi and Cooper, Greg M and Joffe, Steven and Richards, C. Sue and Yang, Yaoping and Rotter, Jerome I and Rich, Stephen S and O'Donnell, Christopher J and Berg, Jonathan S and Spinner, Nancy B and Evans, James P and Fullerton, Stephanie M and Leppig, Kathleen A and Bennett, Robin L and Bird, Thomas and Sybert, Virginia P and Grady, William M and Tabor, Holly K and Kim, Jerry H and Bamshad, Michael J and Wilfond, Benjamin and Motulsky, Arno G and Scott, C. Ronald and Pritchard, Colin C and Walsh, Tom D and Burke, Wylie and Raskind, Wendy H and Byers, Peter and Hisama, Fuki M and Rehm, Heidi and Nickerson, Debbie A and Jarvik, Gail P
Genome Research, ISSN 1088-9051, 03/2015, Volume 25, Issue 3, pp. 305 - 315
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the... 
INDIVIDUALS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MESSENGER-RNA DECAY | MUTATIONS | IDENTIFICATION | INSIGHTS | European Continental Ancestry Group - genetics | Genetic Testing | Genetic Association Studies | Gene Frequency | Humans | Incidental Findings | Male | Exome | Phenotype | Genes, Dominant | Adult | Female | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | African Continental Ancestry Group - genetics | Genome, Human | Genomics - methods | Genetic variation | Population genetics | Research | Index Medicus
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8. Full Text Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations
by Matthew C. Dulik and Amanda C. Owings and Jill B. Gaieski and Miguel G. Vilar and Alestine Andre and Crystal Lennie and Mary Adele Mackenzie and Ingrid Kritsch and Sharon Snowshoe and Ruth Wright and James Martin and Nancy Gibson and Thomas D. Andrews and Theodore G. Schurr and Genographic Consortium and The Genographic Consortium
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2012, Volume 109, Issue 22, pp. 8471 - 8476
For decades, the peopling of the Americas has been explored through the analysis of uniparentally inherited genetic systems in Native American populations and... 
Haplotypes | United States history | Ethnolinguistics | Genetic variation | Y chromosome | Evolutionary genetics | Mitochondrial DNA | Native Americans | Population genetics | Human genetics | Haplogroup | Thule | Inuit | Arctic | Haplotype | Geography | Gene Frequency | Humans | Genotype | Male | Mutation Rate | Inuits - genetics | Phylogeny | Microsatellite Repeats - genetics | Chromosomes, Human, Y - genetics | Genetic Variation | Canada | Chromosomes, Human, Pair 19 - genetics | Haplotypes - genetics | Genetics, Population - methods | Indians, North American - genetics | Polymorphism, Single Nucleotide | Mutation | Emigration and Immigration | Physiological aspects | Anthropology | Research | Chromosomes | Genotype & phenotype | Genetics | Native North Americans | Index Medicus | Biological Sciences | haplotype | haplogroup
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9. Full Text Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))
by Amendola, Laura M and Jarvik, Gail P and Leo, Michael C and McLaughlin, Heather M and Akkari, Yassmine and Amaral, Michelle D and Berg, Jonathan S and Biswas, Sawona and Bowling, Kevin M and Conlin, Laura K and Cooper, Greg M and Dorschner, Michael O and Dulik, Matthew C and Ghazani, Arezou A and Ghosh, Rajarshi and Green, Robert C and Hart, Ragan and Horton, Carrie and Johnston, Jennifer J and Lebo, Matthew S and Milosavljevic, Aleksandar and Ou, Jeffrey and Pak, Christine M and Patel, Ronak Y and Punj, Sumit and Richards, Carolyn Sue and Salama, Joseph and Strande, Natasha T and Yang, Yaping and Plon, Sharon E and Biesecker, Leslie G and Rehm, Heidi L
American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, p. 247
(The American Journal of Human Genetics 98, 1067–1076; June 2, 2016) On page 1072 in the originally published version of this article, PS2 was a typo and... 
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10. Full Text Y-chromosome variation in Altaian Kazakhs reveals a common paternal gene pool for Kazakhs and the influence of Mongolian expansions
by Dulik, Matthew C and Osipova, Ludmila P and Schurr, Theodore G
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 3, pp. e17548 - e17548
Kazakh populations have traditionally lived as nomadic pastoralists that seasonally migrate across the steppe and surrounding mountain ranges in Kazakhstan and... 
SHORT TANDEM REPEATS | RESOLUTION | BIOLOGY | CENTRAL-ASIAN POPULATIONS | HAPLOGROUP C | EAST-ASIA | DIVERSITY | DIVERGENCE | ADMIXTURE | HUNTER-GATHERER | SIBERIAN POPULATIONS | Geography | Genetics, Population | Gene Pool | Humans | Male | Phylogeny | Kazakhstan | Microsatellite Repeats - genetics | Chromosomes, Human, Y - genetics | Genetic Variation | Haplotypes - genetics | Mongolia | Ethnic Groups - genetics | Recombination, Genetic - genetics | Fathers | Principal Component Analysis | Emigration and Immigration | Genetic research | Chromosomes | Analysis | Biological diversity | Short tandem repeats | Data analysis | Integrated software | Traditions | Populations | Hunter-gatherers | Migration | Social structure | Gene pool | Genomes | Genetic diversity | Mitochondrial DNA | History | Population genetics | Minority & ethnic groups | Multiculturalism & pluralism | Neolithic | Studies | Software packages | Mutation | Y Chromosomes | Variation | Index Medicus | Data processing
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