X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (73) 73
Publication (15) 15
Book / eBook (1) 1
Book Chapter (1) 1
Dissertation (1) 1
Magazine Article (1) 1
Newspaper Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
genetics & heredity (36) 36
index medicus (32) 32
humans (23) 23
genetic aspects (16) 16
genomics (16) 16
article (15) 15
genetics (14) 14
research (13) 13
dna sequencing (10) 10
female (10) 10
genetic variation (10) 10
male (10) 10
nucleotide sequencing (10) 10
diagnosis (9) 9
genome, human (9) 9
adult (8) 8
analysis (8) 8
risk factors (8) 8
exome (7) 7
genetic research (7) 7
incidental findings (7) 7
medical research (7) 7
mutation (7) 7
phenotypes (7) 7
disease (6) 6
genomes (6) 6
health (6) 6
health aspects (6) 6
phenotype (6) 6
usage (6) 6
variants (6) 6
young adult (6) 6
adolescent (5) 5
aged (5) 5
child (5) 5
diseases (5) 5
exome sequencing (5) 5
high-throughput nucleotide sequencing (5) 5
medicine (5) 5
medicine, experimental (5) 5
middle aged (5) 5
mutations (5) 5
rare diseases (5) 5
report (5) 5
software (5) 5
undiagnosed diseases (5) 5
whole-exome sequencing (5) 5
aged, 80 and over (4) 4
care and treatment (4) 4
child development deviations (4) 4
developmental disabilities (4) 4
drosophila (4) 4
expression (4) 4
gene sequencing (4) 4
genetic screening (4) 4
genomic sequencing (4) 4
information dissemination - methods (4) 4
intellectual disability (4) 4
knowledge (4) 4
medicine, general & internal (4) 4
physiological aspects (4) 4
united states (4) 4
whole exome sequencing (4) 4
whole genome sequencing (4) 4
abridged index medicus (3) 3
alleles (3) 3
amino acid sequence (3) 3
ataxia (3) 3
cancer (3) 3
care (3) 3
child, preschool (3) 3
children (3) 3
clonal deletion (3) 3
correction (3) 3
databases, genetic (3) 3
degeneration (3) 3
diagnostic systems (3) 3
epilepsy (3) 3
fibroblasts (3) 3
gene (3) 3
genes (3) 3
genetic association studies (3) 3
genetic counseling (3) 3
genetic disorders (3) 3
genetic testing (3) 3
genetic testing - methods (3) 3
genome sequencing (3) 3
genomics - methods (3) 3
hypotonia (3) 3
infant (3) 3
infants (3) 3
intellectual disability - genetics (3) 3
laboratories (3) 3
management (3) 3
medical genetics (3) 3
medical screening (3) 3
medseq project (3) 3
methods (3) 3
molecular biology (3) 3
nervous system (3) 3
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.], 2015, Volume 87, pp. 9.23.1 - 9.23.16
Genomic sequencing is becoming accurate, fast, and increasingly inexpensive, and is rapidly being incorporated into clinical practice. Incidental or secondary... 
genomics | incidental findings | exome | secondary findings | whole genome | sequencing | Genetic Variation | Genetics, Medical | Truth Disclosure | Humans | Incidental Findings | High-Throughput Nucleotide Sequencing | Genome, Human | Genomics - methods
Journal Article
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 10, pp. 915 - 921
Journal Article
The American journal of medicine, ISSN 0002-9343, 07/2019
Journal Article
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
Journal Article
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 622 - 630
Purpose: Newborn genomic sequencing (nGS) has great potential to improve pediatric care. Parental interest and concerns about genomics are relatively... 
Newborn screening | Newborn | Parental concerns | Genomic sequencing | Consent for genomic testing | RISKS | CARE | CLINICAL-RESEARCH | TRIAL | INFORMED-CONSENT | INFANTS | GENETICS & HEREDITY | OUTCOMES | Parental Concerns | Genomic Sequencing | Consent for Genomic Testing | Newborn Screening
Journal Article
Current Protocols in Human Genetics, ISSN 1934-8266, 2013, Volume Chapter 9, Issue 77, p. Unit9.23
Genomic sequencing is becoming accurate, fast, and inexpensive, and is rapidly being incorporated into clinical practice. Incidental findings, which result in... 
Exome | Whole genome | Sequencing | Genomics | Incidental findings | Genetic Variation | Incidental Findings | High-Throughput Nucleotide Sequencing | Genome, Human | Humans
Journal Article
Dialogues in Clinical Neuroscience, ISSN 1294-8322, 2016, Volume 18, Issue 3, pp. 299 - 312
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 | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 01/2019, Volume 21, Issue 5, pp. 1261 - 1262
The originally published version of this Article contained errors in Fig. 2. The numbers below the black arrowheads were incorrect; please see incorrect Figure... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2019, Volume 104, Issue 1, pp. 76 - 93
Journal Article