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American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1287 - 1292
The widespread availability of comparative genomic hybridization (CGH) array analysis has led to the discovery of several genomic microdeletion‐associated... 
16q22 | 16q22.1 | 16q22.1 microdeletion | microdeletion syndrome | MUTATION | GENETICS & HEREDITY | 1 microdeletion | Cytogenetics | Analysis | Genetic disorders | Congenital defects | Phenotypes | Hybridization
Journal Article
Human Mutation, ISSN 1059-7794, 06/2010, Volume 31, Issue 6, pp. E1506 - E1518
Journal Article
GENETICS IN MEDICINE, ISSN 1098-3600, 03/2016, Volume 18, Issue 3, pp. 277 - 277
Journal Article
MEDICINE, ISSN 0025-7974, 07/2019, Volume 98, Issue 30, p. e16661
Rationale: Small supernumerary marker chromosomes (sSMCs) can be usually discovered in the patients with mental retardation, infertile couples, and prenatal... 
Yq deletion | sSMC(Y) mosaicism | PHENOTYPE | SEGREGATION | CONSTITUTION | MEDICINE, GENERAL & INTERNAL | SPERM | MICRODELETIONS | de novo AZFb plus c microdeletion | FREQUENCY | MEN | INFERTILITY | azoospermic male | DELETIONS | Case studies | Human chromosome abnormalities | Complications and side effects | Genetic aspects | Infertility, Male
Journal Article
NATURE REVIEWS GENETICS, ISSN 1471-0056, 08/2012, Volume 13, Issue 8, pp. 565 - 575
New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based... 
INTELLECTUAL DISABILITY | GERMLINE | 17Q21.31 MICRODELETION SYNDROME | MEIOTIC RECOMBINATION HOTSPOTS | GENETICS & HEREDITY | AGE EFFECT MUTATIONS | SPECTRUM | COPY NUMBER VARIATION | SOMATIC MOSAICISM | SELECTION | COMMON INVERSION
Journal Article
Journal of Maternal-Fetal and Neonatal Medicine, ISSN 1476-7058, 2019, pp. 1 - 6
Recurrent miscarriage (RM) affects about 5% of pregnancies. Etiology of 30-50% RM cases remains unknown. Advanced highly sensitive detection and analysis... 
Genetic | recurrent miscarriage | NGS | microduplication | microdeletion
Journal Article
Cell Reports, ISSN 2211-1247, 02/2019, Volume 26, Issue 8, pp. 2037 - 2051.e6
Altered excitatory/inhibitory (E/I) balance is implicated in neuropsychiatric and neurodevelopmental disorders, but the underlying genetic etiology remains... 
epilepsy | 15q11.2 | ASD | microduplication | microdeletion | GABA | CNV | dendritic spine | gephyrin | excitatory/inhibitory | CELL-ADHESION MOLECULE | COMPLEX | NEUROLIGIN 2 | PROTEIN | SYNAPSES | GENES | RECURRENT MICRODELETIONS | GENOME-WIDE | GABA(A) RECEPTORS | 15Q11.2 | CELL BIOLOGY
Journal Article