X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (2423) 2423
humans (2194) 2194
whole exome sequencing (2192) 2192
mutation (1513) 1513
female (1338) 1338
male (1291) 1291
genetics & heredity (1103) 1103
whole-exome sequencing (1001) 1001
genetic aspects (879) 879
mutations (678) 678
pedigree (633) 633
adult (629) 629
genes (609) 609
genomics (536) 536
phenotype (525) 525
genetics (515) 515
analysis (485) 485
child (463) 463
exome (462) 462
genomes (436) 436
middle aged (428) 428
research (422) 422
gene (393) 393
cancer (383) 383
genetic predisposition to disease (374) 374
diagnosis (366) 366
disease (364) 364
child, preschool (356) 356
genetic research (353) 353
oncology (350) 350
article (349) 349
exome - genetics (340) 340
adolescent (336) 336
gene mutations (333) 333
dna sequencing (324) 324
variants (323) 323
infant (283) 283
exome sequencing (268) 268
whole exome sequencing - methods (266) 266
nucleotide sequencing (263) 263
dna mutational analysis (261) 261
deoxyribonucleic acid--dna (252) 252
aged (247) 247
expression (245) 245
usage (231) 231
patients (230) 230
sequence analysis, dna (229) 229
clinical neurology (226) 226
high-throughput nucleotide sequencing (226) 226
neurosciences (226) 226
identification (225) 225
proteins (223) 223
young adult (222) 222
animals (219) 219
pediatrics (219) 219
gene expression (215) 215
genotype (212) 212
next-generation sequencing (212) 212
health aspects (204) 204
mutation - genetics (202) 202
polymorphism, single nucleotide (202) 202
risk factors (200) 200
whole‐exome sequencing (198) 198
genome (196) 196
genetic testing (195) 195
medical research (193) 193
tumors (186) 186
family (183) 183
genetic disorders (183) 183
genetic variation (183) 183
phenotypes (181) 181
care and treatment (174) 174
alleles (171) 171
genetic association studies (171) 171
protein (170) 170
medicine (166) 166
mutation, missense (164) 164
medicine, experimental (162) 162
children (158) 158
intellectual disability (155) 155
biochemistry & molecular biology (151) 151
heterozygote (151) 151
medicine, research & experimental (149) 149
original (149) 149
genome-wide association study (147) 147
cell biology (146) 146
whole genome sequencing (145) 145
gene sequencing (144) 144
multidisciplinary sciences (144) 144
homozygote (142) 142
case report (141) 141
base sequence (139) 139
development and progression (139) 139
infant, newborn (138) 138
medical genetics (137) 137
association (136) 136
disorders (134) 134
mice (133) 133
epilepsy (132) 132
genetic screening (132) 132
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (3569) 3569
German (12) 12
Chinese (6) 6
Korean (5) 5
Japanese (4) 4
French (3) 3
Russian (3) 3
Hungarian (2) 2
Persian (2) 2
Polish (2) 2
Portuguese (2) 2
Turkish (2) 2
Danish (1) 1
Dutch (1) 1
Hebrew (1) 1
Spanish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Reproductive BioMedicine Online, ISSN 1472-6483, 08/2019, Volume 39, pp. e58 - e58
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2013, Volume 15, Issue 7, pp. 565 - 574
In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication... 
genome | genomic medicine | whole exome | whole genome | incidental findings | secondary findings | personalized medicine | sequencing | FUTURE | MEDICINE | RETURN | GENETICS | GENETICS & HEREDITY | Exome | Genetics, Medical | Humans | Incidental Findings | Penetrance | Patient Preference | Genome, Human | Index Medicus | whole-genome | whole-exome
Journal Article
Molecular Human Reproduction, ISSN 1360-9947, 12/2014, Volume 21, Issue 4, pp. 339 - 346
Journal Article
Clinical cancer research : an official journal of the American Association for Cancer Research, ISSN 1078-0432, 01/2019, Volume 25, Issue 2, pp. 641 - 651
Purpose: Little is known about the genetic alterations characteristic of small bowel adenocarcinoma (SBA). Our purpose was to identify targetable alterations... 
BREAST-CANCER | GENE | ONCOLOGY | LANDSCAPE | COLON | WHOLE-EXOME | ENHANCERS | EXPRESSION
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 10/2019, Volume 497, pp. 88 - 94
Primary CoQ deficiency occurs because of the defective biosynthesis of coenzyme Q, one of the key components of the mitochondrial electron transport chain.... 
COQ4 | Clinical whole-exome sequencing | Common mutation | Mitochondriopathy | Index Medicus
Journal Article
Psychological Medicine, ISSN 0033-2917, 2019, pp. 1 - 12
Major depressive disorder (MDD) is a leading cause of disability worldwide and influenced by both environmental and genetic factors. Genetic studies of MDD... 
parallel ICA | MRI | Major depressive disorder | whole exome sequencing
Journal Article
European journal of medical genetics, ISSN 1769-7212, 11/2018
Based on a homozygous missense variant p.Pro311Ala found in three siblings of a consanguineous family, mutations in the STYXL1 gene were suggested to cause... 
Journal Article
Blood cells, molecules & diseases, ISSN 1079-9796, 6/2017, Volume 65, pp. 38 - 40
In an iron deficient child, oral iron repeatedly failed to improve the condition. Whole exome sequencing identified one previously reported plus two novel... 
Whole exome sequencing | Anemia | Iron
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 1/2019, Volume 21, Issue 1, pp. 152 - 160
Journal Article
by Robinson, Brian D and Robinson, Dan and Van Allen, Eliezer M and Wu, Yi-Mi and Schultz, Nikolaus and Lonigro, Robert J and Mosquera, Juan-Miguel and Montgomery, Bruce and Taplin, Mary-Ellen and Pritchard, Colin C and Attard, Gerhardt and Beltran, Himisha and Abida, Wassim and Bradley, Robert K and Vinson, Jake and Cao, Xuhong and Vats, Pankaj and Kunju, Lakshmi P and Hussain, Maha and Feng, Felix Y and Tomlins, Scott A and Cooney, Kathleen A and Smith, David C and Brennan, Christine and Siddiqui, Javed and Mehra, Rohit and Chen, Yu and Rathkopf, Dana E and Morris, Michael J and Solomon, Stephen B and Durack, Jeremy C and Reuter, Victor E and Gopalan, Anuradha and Gao, Jianjiong and Loda, Massimo and Lis, Rosina T and Bowden, Michaela and Balk, Stephen P and Gaviola, Glenn and Sougnez, Carrie and Gupta, Manaswi and Yu, Evan Y and Mostaghel, Elahe A and Cheng, Heather H and Mulcahy, Hyojeong and True, Lawrence D and Plymate, Stephen R and Dvinge, Heidi and Ferraldeschi, Roberta and Flohr, Penny and Miranda, Susana and Zafeiriou, Zafeiris and Tunariu, Nina and Mateo, Joaquin and Perez-Lopez, Raquel and Demichelis, Francesca and Schiffman, Marc and Nanus, David M and Tagawa, Scott T and Sigaras, Alexandros and Eng, Kenneth W and Elemento, Olivier and Sboner, Andrea and Heath, Elisabeth I and Scher, Howard I and Pienta, Kenneth J and Kantoff, Philip and de Bono, Johann S and Rubin, Mark A and Nelson, Peter S and Garraway, Levi A and Sawyers, Charles L and Chinnaiyan, Arul M
Cell, ISSN 0092-8674, 05/2015, Volume 161, Issue 5, pp. 1215 - 1228
Journal Article
by Hmeljak, Julija and Sanchez-Vega, Francisco and Hoadley, Katherine A and Shih, Juliann and Stewart, Chip and Heiman, David and Tarpey, Patrick and Danilova, Ludmila and Drill, Esther and Gibb, Ewan A and Bowlby, Reanne and Kanchi, Rupa and Osmanbeyoglu, Hatice U and Sekido, Yoshitaka and Takeshita, Jumpei and Newton, Yulia and Graim, Kiley and Gupta, Manaswi and Gay, Carl M and Diao, Lixia and Gibbs, David L and Thorsson, Vesteinn and Iype, Lisa and Kantheti, Havish and Severson, David T and Ravegnini, Gloria and Desmeules, Patrice and Jungbluth, Achim A and Travis, William D and Dacic, Sanja and Chirieac, Lucian R and Galateau-Sallé, Françoise and Fujimoto, Junya and Husain, Aliya N and Silveira, Henrique C and Rusch, Valerie W and Rintoul, Robert C and Pass, Harvey and Kindler, Hedy and Zauderer, Marjorie G and Kwiatkowski, David J and Bueno, Raphael and Tsao, Anne S and Creaney, Jenette and Lichtenberg, Tara and Leraas, Kristen and Bowen, Jay and Felau, Ina and Zenklusen, Jean Claude and Akbani, Rehan and Cherniack, Andrew D and Byers, Lauren A and Noble, Michael S and Fletcher, Jonathan A and Robertson, A. Gordon and Shen, Ronglai and Aburatani, Hiroyuki and Robinson, Bruce W and Campbell, Peter and Ladanyi, Marc and Ally, Adrian and Anur, Pavana and Armenia, Joshua and Auman, J. Todd and Balasundaram, Miruna and Balu, Saianand and Baylin, Stephen B and Becich, Michael and Behrens, Carmen and Beroukhim, Rameen and Bielski, Craig and Bodenheimer, Tom and Bootwalla, Moiz S and Brooks, Denise and Byers, Lauren A and Cárcano, Flávio M and Carlsen, Rebecca and Carvalho, Andre L and Cheung, Dorothy and Chirieac, Lucian and Cho, Juok and Chuah, Eric and Chudamani, Sudha and Cibulskis, Carrie and Cope, Leslie and Crain, Daniel and Curley, Erin and De Rienzo, Assunta and DeFreitas, Timothy and Demchok, John A and Dhalla, Noreen and Dhir, Rajiv and Feldman, Michael and Ferguson, Martin L and Fukuda, Shiro and Gabriel, Stacey B and Sallé, Françoise Galateau and Gao, Jianjiong and Gardner, Johanna and Gastier-Foster, Julie M and ... and TCGA Res Network and TCGA Research Network
Cancer Discovery, ISSN 2159-8274, 12/2018, Volume 8, Issue 12, pp. 1549 - 1565
Malignant pleural mesothelioma (MPM) is a highly lethal cancer of the lining of the chest cavity. To expand our understanding of MPM, we conducted a... 
CELLS | IMMUNE-CHECKPOINT | GENE | ONCOLOGY | TUMOR-SUPPRESSOR | WHOLE-EXOME | MUTATIONS | CANCER | EXPRESSION | BAP1 | DELETION
Journal Article
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, ISSN 1552-4841, 6/2018, Volume 177, Issue 4, pp. 426 - 433
Genetic mutations in genes encoding proteins involved in epigenetic machinery have been reported in individuals with autism spectrum disorder, intellectual... 
behavior characterization | neurodevelopment | epigenetic machinery | whole exome sequencing
Journal Article
Experimental and Molecular Pathology, ISSN 0014-4800, 10/2019, Volume 110, pp. 104260 - 104260
Although the treatment of metastatic melanoma has been significantly improved by both anti-BRAF/MEK and checkpoint immunotherapies, resistance to these... 
Metastatic melanoma | Drug resistance | Whole exome sequencing | Immunotherapy | Index Medicus
Journal Article
Neuropathology and applied neurobiology, ISSN 0305-1846, 8/2018, Volume 44, Issue 5, pp. 506 - 521
Journal Article
The Journal of Thoracic and Cardiovascular Surgery, ISSN 0022-5223, 01/2019, Volume 157, Issue 1, pp. 37 - 42
Current guidelines on the management of thoracic aortic disease recommend that the ascending aorta be replaced when it reaches the size of 5.5 cm. Recently... 
aneurysm | criterion | thoracic aortic aneurysm | aortic dissection | whole-exome sequencing | CT scan
Journal Article