X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (65) 65
humans (55) 55
epilepsy (34) 34
genetics & heredity (33) 33
male (33) 33
mutation (33) 33
female (30) 30
genomes (25) 25
genes (24) 24
genetic aspects (22) 22
genetics (21) 21
genomics (21) 21
research (20) 20
clinical neurology (19) 19
article (18) 18
genetic variation (18) 18
de-novo mutations (16) 16
disease (16) 16
mutations (16) 16
adult (15) 15
seizures (15) 15
analysis (14) 14
epilepsy - genetics (13) 13
neurosciences (13) 13
animals (12) 12
proteins (12) 12
association (11) 11
child, preschool (11) 11
intellectual disability (11) 11
middle aged (11) 11
mutation - genetics (11) 11
neurology (11) 11
risk factors (11) 11
young adult (11) 11
adolescent (10) 10
cohort studies (10) 10
gene mutations (10) 10
genetic predisposition to disease (10) 10
brain (9) 9
child (9) 9
diagnosis (9) 9
exome (9) 9
exome - genetics (9) 9
genetic research (9) 9
infant (9) 9
patients (9) 9
phenotype (9) 9
risk (9) 9
autism (8) 8
multidisciplinary sciences (8) 8
variants (8) 8
abridged index medicus (7) 7
developmental disabilities (7) 7
genotype (7) 7
health aspects (7) 7
medicine (7) 7
methods (7) 7
schizophrenia (7) 7
studies (7) 7
anticonvulsants - therapeutic use (6) 6
biochemistry & molecular biology (6) 6
biotechnology & applied microbiology (6) 6
consortia (6) 6
convulsions & seizures (6) 6
framework (6) 6
genetic diseases, inborn - genetics (6) 6
genome (6) 6
genome-wide association (6) 6
genome-wide association study (6) 6
mice (6) 6
nucleotide sequencing (6) 6
population (6) 6
precision medicine (6) 6
protein (6) 6
research article (6) 6
aged (5) 5
carbamazepine (5) 5
children (5) 5
computational biology (5) 5
dna sequencing (5) 5
electrophysiology (5) 5
epilepsy - drug therapy (5) 5
genetic disorders (5) 5
genetic diversity (5) 5
genome, human (5) 5
models, genetic (5) 5
pedigree (5) 5
polymorphism, single nucleotide (5) 5
report (5) 5
science (5) 5
seizures - genetics (5) 5
algorithms (4) 4
biology (4) 4
biology and life sciences (4) 4
correction (4) 4
developmental disabilities - genetics (4) 4
encephalopathy (4) 4
epilepsy - diagnosis (4) 4
epileptic encephalopathies (4) 4
exome sequencing (4) 4
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


PLoS Genetics, ISSN 1553-7390, 08/2013, Volume 9, Issue 8, pp. e1003709 - e1003709
A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring... 
RATES | DE-NOVO MUTATIONS | NUCLEOTIDE SUBSTITUTION | MOUSE | GENETICS & HEREDITY | Exome | Genetic Variation | Humans | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - pathology | Mutation | Genome, Human | Precision Medicine | Epigenetic inheritance | Research | Genetic variation | Genomics | Index Medicus | Disease | Genes | African Americans | Population | Genomes
Journal Article
by Cirulli, Elizabeth T and Lasseigne, Brittany N and Petrovski, Slavé and Sapp, Peter C and Dion, Patrick A and Leblond, Claire S and Couthouis, Julien and Lu, Yi-Fan and Wang, Quanli and Krueger, Brian J and Ren, Zhong and Keebler, Jonathan and Han, Yujun and Levy, Shawn E and Boone, Braden E and Wimbish, Jack R and Waite, Lindsay L and Jones, Angela L and Carulli, John P and Day-Williams, Aaron G and Staropoli, John F and Xin, Winnie W and Chesi, Alessana and Raphael, Alya R and McKenna-Yasek, Diane and Cady, Janet and de Jong, J. M. B. Vianney and Kenna, Kevin P and Smith, Bradley N and Topp, Simon and Miller, Jack and Gkazi, Athina and Al-Chalabi, Ammar and van den Berg, Leonard H and Veldink, Jan and Silani, Vincenzo and Ticozzi, Nicola and Shaw, Christopher E and Baloh, Robert H and Appel, Stanley and Simpson, Ericka and Lagier-Tourenne, Clotilde and Pulst, Stefan M and Gibson, Summer and Trojanowski, John Q and Elman, Lauren and McCluskey, Leo and Grossman, Murray and Shneider, Neil A and Chung, Wendy K and Ravits, John M and Glass, Jonathan D and Sims, Katherine B and van Deerlin, Vivianna M and Maniatis, Tom and Hayes, Sebastian D and Ordureau, Alban and Swarup, Sharan and Landers, John and Baas, Frank and Allen, Anew S and Bedlack, Richard S and Harper, J. Wade and Gitler, Aaron D and Rouleau, Guy A and Brown, Robert and Harms, Matthew B and Cooper, Gregory M and Harris, Tim and Myers, Richard M and Goldstein, David B and Hardiman, Orla and McLaughlin, Russell L and Mazzini, Letizia and Blair, Ian P and Williams, Kelly L and Nicholson, Garth A and Al-Sarraj, Safa and King, Anew and Scotter, Emma L and Troakes, Claire and Vance, Caroline and D'alfonso, Sana and Duga, Stefano and Corrado, Lucia and ten Asbroek, Anneloor L. M. A and Calini, Daniela and Colombrita, Claudia and Ratti, Antonia and Tiloca, Cinzia and Wu, Zheyang and Asress, Seneshaw and Polak, Meraida and Diekstra, Frank and van Rheenen, Wouter and Danielson, Eric W and Fallini, Claudia and Keagle, Pamela and Lewis, Elizabeth A and Kost, Jason and ... and FALS Sequencing Consortium
Science, ISSN 0036-8075, 2015, Volume 347, Issue 6229, pp. 1436 - 1441
Journal Article
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 07/2017, Volume 196, Issue 1, pp. 82 - 93
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1261 - 1280
Journal Article
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 236 - 11
Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non- coding... 
EVOLUTION | DE-NOVO MUTATIONS | GENETICS | MULTIDISCIPLINARY SCIENCES | DISEASE | GENES | GUIDELINES | SEQUENCE VARIANTS | RISK | SYNONYMOUS VARIANTS | Exome | Genetic Variation | Introns | Gene Frequency | Humans | Molecular Sequence Annotation | Databases, Genetic | Epilepsy - genetics | Pathogenicity | Pathogens | Splicing | Transcription | World Wide Web | Internet | Servers (computers) | Index Medicus
Journal Article
PLoS Genetics, ISSN 1553-7390, 01/2017, Volume 13, Issue 1, pp. e1006536 - e1006536
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 1001 - 1010
Journal Article