| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research
|
Darnell, Andrew J.
|
|
2016
|
98 |
3 |
p. 435-441
7 p.
|
artikel
|
| 2 |
A Locus at 5q33.3 Confers Resistance to Tuberculosis in Highly Susceptible Individuals
|
Sobota, Rafal S.
|
|
2016
|
98 |
3 |
p. 514-524
11 p.
|
artikel
|
| 3 |
2015 ASHG Awards and Addresses
|
|
|
2016
|
98 |
3 |
p. 405-406
2 p.
|
artikel
|
| 4 |
A Statistical Approach for Testing Cross-Phenotype Effects of Rare Variants
|
Broadaway, K. Alaine
|
|
2016
|
98 |
3 |
p. 525-540
16 p.
|
artikel
|
| 5 |
2015 Curt Stern Award 1
|
Kruglyak, Leonid
|
|
2016
|
98 |
3 |
p. 428-430
3 p.
|
artikel
|
| 6 |
2015 Curt Stern Award Introduction: Leonid Kruglyak 1
|
Ostrander, Elaine
|
|
2016
|
98 |
3 |
p. 427-
1 p.
|
artikel
|
| 7 |
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
|
Stessman, Holly A.F.
|
|
2016
|
98 |
3 |
p. 541-552
12 p.
|
artikel
|
| 8 |
DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
|
White, Janson J.
|
|
2016
|
98 |
3 |
p. 553-561
9 p.
|
artikel
|
| 9 |
Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue
|
Vattathil, Selina
|
|
2016
|
98 |
3 |
p. 571-578
8 p.
|
artikel
|
| 10 |
Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia
|
Galinsky, Kevin J.
|
|
2016
|
98 |
3 |
p. 456-472
17 p.
|
artikel
|
| 11 |
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
|
Lesage, Suzanne
|
|
2016
|
98 |
3 |
p. 500-513
14 p.
|
artikel
|
| 12 |
MEGSA: A Powerful and Flexible Framework for Analyzing Mutual Exclusivity of Tumor Mutations
|
Hua, Xing
|
|
2016
|
98 |
3 |
p. 442-455
14 p.
|
artikel
|
| 13 |
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
|
Harel, Tamar
|
|
2016
|
98 |
3 |
p. 562-570
9 p.
|
artikel
|
| 14 |
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
|
Bennett, James T.
|
|
2016
|
98 |
3 |
p. 579-587
9 p.
|
artikel
|
| 15 |
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
|
Knierim, Ellen
|
|
2016
|
98 |
3 |
p. 473-489
17 p.
|
artikel
|
| 16 |
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
|
Poulter, James A.
|
|
2016
|
98 |
3 |
p. 592-
1 p.
|
artikel
|
| 17 |
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases
|
Greene, Daniel
|
|
2016
|
98 |
3 |
p. 490-499
10 p.
|
artikel
|
| 18 |
Presidential Address: All in the Family, or “Gee, Our Old LaSalle Ran Great” 1
|
Risch, Neil
|
|
2016
|
98 |
3 |
p. 407-416
10 p.
|
artikel
|
| 19 |
PRICKLE2 Mutations Might Not Be Involved in Epilepsy
|
Sandford, Erin
|
|
2016
|
98 |
3 |
p. 588-589
2 p.
|
artikel
|
| 20 |
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
|
Al Turki, Saeed
|
|
2016
|
98 |
3 |
p. 592-
1 p.
|
artikel
|
| 21 |
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine
|
Mahajan, Vinit B.
|
|
2016
|
98 |
3 |
p. 590-591
2 p.
|
artikel
|
| 22 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2016
|
98 |
3 |
p. 403-404
2 p.
|
artikel
|
| 23 |
This Month in The Journal
|
Cullinan, Sara B.
|
|
2016
|
98 |
3 |
p. 401-402
2 p.
|
artikel
|
| 24 |
2015 Victor A. McKusick Leadership Award 1
|
Scriver, Charles R.
|
|
2016
|
98 |
3 |
p. 433-434
2 p.
|
artikel
|
| 25 |
2015 Victor A. McKusick Leadership Award Introduction: Charles Scriver 1
|
Valle, David
|
|
2016
|
98 |
3 |
p. 431-432
2 p.
|
artikel
|
| 26 |
2015 William Allan Award 1
|
Davies, Kay E.
|
|
2016
|
98 |
3 |
p. 419-426
8 p.
|
artikel
|
| 27 |
2015 William Allan Award Introduction: Kay E. Davies 1
|
Fisch, Gene S.
|
|
2016
|
98 |
3 |
p. 417-418
2 p.
|
artikel
|
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