| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility
|
Kherraf, Zine-Eddine
|
|
|
103 |
3 |
p. 400-412
|
artikel
|
| 2 |
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort
|
Schwartz, Marci L.B.
|
|
|
103 |
3 |
p. 328-337
|
artikel
|
| 3 |
A One-Penny Imputed Genome from Next-Generation Reference Panels
|
Browning, Brian L.
|
|
|
103 |
3 |
p. 338-348
|
artikel
|
| 4 |
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
|
Ghosh, Shereen G.
|
|
|
103 |
3 |
p. 431-439
|
artikel
|
| 5 |
Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia
|
Song, Janet H.T.
|
|
|
103 |
3 |
p. 421-430
|
artikel
|
| 6 |
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome
|
Toki, Tsutomu
|
|
|
103 |
3 |
p. 440-447
|
artikel
|
| 7 |
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
|
Fan, Yanjie
|
|
|
103 |
3 |
p. 448-455
|
artikel
|
| 8 |
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot
|
Sapp, Julie C.
|
|
|
103 |
3 |
p. 358-366
|
artikel
|
| 9 |
Fetal—Not Maternal—APOL1 Genotype Associated with Risk for Preeclampsia in Those with African Ancestry
|
Reidy, Kimberly J.
|
|
|
103 |
3 |
p. 367-376
|
artikel
|
| 10 |
Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase
|
Long, Jeffrey D.
|
|
|
103 |
3 |
p. 349-357
|
artikel
|
| 11 |
Genetic Regulatory Mechanisms of Smooth Muscle Cells Map to Coronary Artery Disease Risk Loci
|
Liu, Boxiang
|
|
|
103 |
3 |
p. 377-388
|
artikel
|
| 12 |
IRF2BPL Is Associated with Neurological Phenotypes
|
Marcogliese, Paul C.
|
|
|
103 |
3 |
p. 456
|
artikel
|
| 13 |
Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men
|
Auguste, Yasmina
|
|
|
103 |
3 |
p. 413-420
|
artikel
|
| 14 |
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
|
Martin, Carol-Anne
|
|
|
103 |
3 |
p. 456
|
artikel
|
| 15 |
PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases
|
Fujiwara, Toyofumi
|
|
|
103 |
3 |
p. 389-399
|
artikel
|
| 16 |
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
|
Demaerel, Wolfram
|
|
|
103 |
3 |
p. 457
|
artikel
|
| 17 |
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
|
Amendola, Laura M.
|
|
|
103 |
3 |
p. 319-327
|
artikel
|
| 18 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
103 |
3 |
p. 317-318
|
artikel
|
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