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Journal of Autism and Developmental Disorders, ISSN 0162-3257, 12/2019, Volume 49, Issue 12, pp. 4821 - 4833
This study examined the experiences of Autism Spectrum Disorder (ASD) genetic testing among parents of children with ASD. A nationwide sample of 552 parents of... 
Pediatrics | Child and School Psychology | Neurosciences | Public Health | Experience | Utilization | Psychology | Parents | Genetic testing | Autism spectrum disorder | Health care | Unpleasant | Autism | Parents & parenting | Negative experiences | Children | Genetic factors | Autistic children | Genetic screening
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2018, Volume 20, Issue 9, pp. 1030 - 1037
Journal Article
Clinical Case Reports, ISSN 2050-0904, 01/2019, Volume 7, Issue 1, pp. 202 - 205
Key Clinical Message Even in well‐described genetic syndromes, such as neurofibromatosis type 1, expansion of the phenotype should be considered as a possible... 
juvenile polyposis syndrome | PTEN hamartoma syndrome | hereditary polyposis syndrome | neurofibromatosis type 1 | colonic polyposis | dual diagnosis | hamartomatous polyps | Medical diagnosis | Genetic disorders
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2019, Volume 380, Issue 25, pp. 2478 - 2480
As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. This study showed... 
MEDICINE, GENERAL & INTERNAL | Exome | Phenotype | Humans | Genetic Diseases, Inborn - genetics | Mutation | Genetic Diseases, Inborn - diagnosis | Genetic Testing - methods | Sequence Analysis, DNA - methods | Whole Exome Sequencing | Genetic counseling | Laboratories | Patients | Genomics
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 11/2018, Volume 6, Issue 6, pp. 993 - 1000
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 04/2013, Volume 161A, Issue 4, pp. 841 - 844
Interstitial deletions involving 2q24 have been associated with a wide range of phenotypes including intellectual disability and short stature. To date, the... 
KAPPA-B ACTIVATION | comparative genomic hybridization | GENOME | deletion | chromosome 2 | mosaicism | PROTEASOME | GENETICS & HEREDITY | NEURONS | 2q24 | DEGRADATION | GIRL | intellectual disability | DEUBIQUITINATION | Deletion | Mosaicism | Intellectual disability | Comparative genomic hybridization | Chromosome 2 | Cytogenetics | Genes | Genomics | Body height
Journal Article
Experimental Hematology and Oncology, ISSN 2162-3619, 01/2015, Volume 4, Issue 1, p. 1
Because up to 30% of breast cancer cases may relapse, understanding the biology of recurrent breast cancer is imperative in preventing these poor outcomes.... 
BRCA2 mutation | Therapeutic stress | Small cell carcinoma of the breast | PIK3CA mutation | Adenocarcinoma | Prevention | Relapse | Gene mutations | Genetic aspects | Tumor proteins | Cancer | Diseases | Chemotherapy | Breast cancer | Mutation | Morphology | Advisors | Tumors
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2013, Volume 161, Issue 1, pp. 89 - 93
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2013, Volume 161, Issue 4, pp. 841 - 844
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2015, Volume 167, Issue 6, pp. 1309 - 1314
Conradi-Huenermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While... 
Journal Article