| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies
|
Liu, Yaowu
|
|
2019
|
104 |
3 |
p. 410-421
|
artikel
|
| 2 |
A Global Collaborative to Advance Genomic Medicine
|
Ginsburg, Geoffrey S.
|
|
2019
|
104 |
3 |
p. 407-409
|
artikel
|
| 3 |
2018 ASHG Awards and Addresses
|
|
|
2019
|
104 |
3 |
p. 361-362
|
artikel
|
| 4 |
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
|
Burrage, Lindsay C.
|
|
2019
|
104 |
3 |
p. 422-438
|
artikel
|
| 5 |
2018 Curt Stern Award Address
|
Kathiresan, Sekar
|
|
2019
|
104 |
3 |
p. 384-388
|
artikel
|
| 6 |
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails
|
Kuo, Molly E.
|
|
2019
|
104 |
3 |
p. 520-529
|
artikel
|
| 7 |
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
|
Helbig, Katherine L.
|
|
2019
|
104 |
3 |
p. 562
|
artikel
|
| 8 |
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
|
Palmer, Elizabeth E.
|
|
2019
|
104 |
3 |
p. 542-552
|
artikel
|
| 9 |
Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes
|
Bahrami-Samani, Emad
|
|
2019
|
104 |
3 |
p. 492-502
|
artikel
|
| 10 |
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
|
Gonorazky, Hernan D.
|
|
2019
|
104 |
3 |
p. 466-483
|
artikel
|
| 11 |
Genome-wide Significance Thresholds for Admixture Mapping Studies
|
Grinde, Kelsey E.
|
|
2019
|
104 |
3 |
p. 454-465
|
artikel
|
| 12 |
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish
|
Unlu, Gokhan
|
|
2019
|
104 |
3 |
p. 503-519
|
artikel
|
| 13 |
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
|
Chang, Hae Ryung
|
|
2019
|
104 |
3 |
p. 439-453
|
artikel
|
| 14 |
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
|
Cogné, Benjamin
|
|
2019
|
104 |
3 |
p. 530-541
|
artikel
|
| 15 |
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome
|
Keppler-Noreuil, Kim M.
|
|
2019
|
104 |
3 |
p. 484-491
|
artikel
|
| 16 |
2018 Presidential Address: Who Are We? 1
|
Nelson, David L.
|
|
2019
|
104 |
3 |
p. 363-372
|
artikel
|
| 17 |
Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure
|
Laval, Guillaume
|
|
2019
|
104 |
3 |
p. 553-561
|
artikel
|
| 18 |
This Month in The Journal
|
|
|
2019
|
104 |
3 |
p. 359-360
|
artikel
|
| 19 |
2018 Victor A. McKusick Leadership Award Introduction: James R. Lupski 1
|
Valle, David
|
|
2019
|
104 |
3 |
p. 389-390
|
artikel
|
| 20 |
2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements 1
|
Lupski, James R.
|
|
2019
|
104 |
3 |
p. 391-406
|
artikel
|
| 21 |
2018 William Allan Award: Discovering the Genes for Common Disease: From Families to Populations 1
|
Lander, Eric S.
|
|
2019
|
104 |
3 |
p. 375-383
|
artikel
|
| 22 |
2018 William Allan Award Introduction: Eric S. Lander 1
|
Daly, Mark J.
|
|
2019
|
104 |
3 |
p. 373-374
|
artikel
|
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