Apnea and sudden unexpected death in infants with achondroplasia
RM Pauli, CI Scott, ER Wassman Jr, EF Gilbert… - The Journal of …, 1984 - Elsevier
Thirteen infants with achondroplasia and sudden unexpected death or unexplained apnea
were discovered through nonsystematic retrospective case collection. Most were initially …
were discovered through nonsystematic retrospective case collection. Most were initially …
[PDF][PDF] OTUD7A regulates neurodevelopmental phenotypes in the 15q13. 3 microdeletion syndrome
Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric
disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes and is …
disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes and is …
Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards
…, WA Horton, CI Scott Jr, ER Wassman… - American journal of …, 1985 - Wiley Online Library
Computerized tomographic dimensions of the foramen magnum of 63 achondroplastic
individuals were compared to standards established for nonachondroplastic individuals. The size …
individuals were compared to standards established for nonachondroplastic individuals. The size …
Transformation with DNA from 5-azacytidine-reactivated X chromosomes.
L Venolia, SM Gartler, ER Wassman… - Proceedings of the …, 1982 - National Acad Sciences
It has been shown that 5-azacytidine (5-Aza-Cyd) can reactivate genes on the inactive
human X chromosome. It is assumed that the 5-Aza-Cyd acts by causing demethylation of the …
human X chromosome. It is assumed that the 5-Aza-Cyd acts by causing demethylation of the …
[HTML][HTML] Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders using an ultra-high resolution chromosomal microarray …
KS Ho, ER Wassman, AL Baxter, CH Hensel… - International journal of …, 2016 - mdpi.com
Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) significantly
contribute to understanding the etiology of autism spectrum disorder (ASD) and other …
contribute to understanding the etiology of autism spectrum disorder (ASD) and other …
Social listening as a rapid approach to collecting and analyzing COVID-19 symptoms and disease natural histories reported by large numbers of individuals
…, E Sinrod, SE Diebel, ER Wassman - Population Health …, 2020 - liebertpub.com
… Inoue and Wassman hold stock options in the company. TREND Community extracts and
analyzes information from social media for the benefit of patients and furthering clinical …
analyzes information from social media for the benefit of patients and furthering clinical …
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum
Characterization of CFTR mutations in the US Hispanic population is vital to early diagnosis,
genetic counseling, patient-specific treatment, and the understanding of cystic fibrosis (CF) …
genetic counseling, patient-specific treatment, and the understanding of cystic fibrosis (CF) …
International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay
…, X Sheng, C Weng, ER Wassman III… - American Journal of …, 2020 - Wiley Online Library
… Edward Robert Wassman III … Edward Robert Wassman III … the terminal WHS 4p region (Ho
et al., 2016; Ho & Wassman, 2017). This candidate region contained two genes encoding zinc-…
et al., 2016; Ho & Wassman, 2017). This candidate region contained two genes encoding zinc-…
[HTML][HTML] Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
…, MA Serrano, CH Hensel, ER Wassman - BMC medical …, 2018 - Springer
Background Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical
diagnostic test for individuals with developmental disabilities. In addition to detecting copy …
diagnostic test for individuals with developmental disabilities. In addition to detecting copy …
[HTML][HTML] Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders
Copy number variants (CNV)s involving KANK1 are generally classified as variants of
unknown significance. Several clinical case reports suggest that the loss of KANK1 on …
unknown significance. Several clinical case reports suggest that the loss of KANK1 on …