Biology of the syndecans: a family of transmembrane heparan sulfate proteoglycans
…, MT Hinkes, J Spring, RL Gallo, EJ Lose - Annual review of cell …, 1992 - annualreviews.org
… With further development, the epithelium becomes morphological ly stable and re-expresses
cell surface syndecan-l , while the mesenchymal component loses it as the cells terminally …
cell surface syndecan-l , while the mesenchymal component loses it as the cells terminally …
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
…, AV Levin, H Li, H Li, EC Liao, C Lim, EJ Lose… - Nature …, 2017 - nature.com
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the landscape …
characterization has largely been restricted to cytogenetic resolution. We explored the landscape …
[HTML][HTML] Genomic diagnosis for children with intellectual disability and/or developmental delay
…, KM East, DE Gray, WV Kelley, NE Lamb, EJ Lose… - Genome medicine, 2017 - Springer
Background Developmental disabilities have diverse genetic causes that must be identified
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and …
FM Mikhail, EJ Lose, NH Robin… - American journal of …, 2011 - Wiley Online Library
Recent studies suggest that copy number variations (CNVs) encompassing several genes
involved in neurodevelopmental pathways are associated with a variety of neuropsychiatric …
involved in neurodevelopmental pathways are associated with a variety of neuropsychiatric …
[HTML][HTML] BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
…, BA Kozel, AS Schneider, TM Bardakjian, EJ Lose… - Human genetics, 2011 - Springer
BMP4 loss-of-function mutations and deletions have been shown to be associated with
ocular, digital, and brain anomalies, but due to the paucity of these reports, the full phenotypic …
ocular, digital, and brain anomalies, but due to the paucity of these reports, the full phenotypic …
[PDF][PDF] Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism
…, EJ Lose, M Primiano, WK Chung, J Juusola… - The American Journal of …, 2017 - cell.com
From a GeneMatcher-enabled international collaboration, we identified ten individuals
affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a …
affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a …
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United …
…, LC Burrage, JB Gibson, ME Strenk, EJ Lose… - Molecular genetics and …, 2015 - Elsevier
Very long chain acyl-coA dehydrogenase deficiency (VLCADD) is an autosomal recessive
inborn error of fatty acid oxidation detected by newborn screening (NBS). Follow-up …
inborn error of fatty acid oxidation detected by newborn screening (NBS). Follow-up …
Systematic reanalysis of genomic data improves quality of variant interpretation
As genomic sequencing expands, so does our knowledge of the link between genetic
variation and disease. Deeper catalogs of variant frequencies improve identification of benign …
variation and disease. Deeper catalogs of variant frequencies improve identification of benign …
[HTML][HTML] Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results
…, MJ Westbrook, CA Rich, KM Bowling, EJ Lose… - Genetics in …, 2017 - nature.com
Purpose: Eliciting and understanding patient and research participant preferences regarding
return of secondary test results are key aspects of genomic medicine. A valid instrument …
return of secondary test results are key aspects of genomic medicine. A valid instrument …
[HTML][HTML] Genomic sequencing identifies secondary findings in a cohort of parent study participants
…, KM East, DE Gray, JMJ Lawlor, WV Kelley, EJ Lose… - Genetics in …, 2018 - Elsevier
Purpose Clinically relevant secondary variants were identified in parents enrolled with a child
with developmental delay and intellectual disability. Methods Exome/genome sequencing …
with developmental delay and intellectual disability. Methods Exome/genome sequencing …