Daniel McGoldrick
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View article: Exome sequencing identifies genetic variants in anophthalmia and microphthalmia
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia Open
Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence of an eye or reduced eye volumes within the orbit leading to vision loss. Although clinic…
View article: Exome sequencing identifies variants in infants with sacral agenesis
Exome sequencing identifies variants in infants with sacral agenesis Open
Background Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one ha…
View article: Additional file 2 of Lung tissue shows divergent gene expression between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis
Additional file 2 of Lung tissue shows divergent gene expression between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis Open
Additional file 2. Supplementary tables. Table S1. IPF vs. control differential expression results. Table S2. COPD vs. control differential expression results. Table S3. Overlap genes from COPD and IPF vs. control differential expression. …
View article: Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children Open
Bladder exstrophy (BE) is a rare, lower ventral midline defect with the bladder and part of the urethra exposed. The etiology of BE is unknown but thought to be influenced by genetic variation with more recent studies suggesting a role for…
View article: Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data Open
Background The National Birth Defects Prevention Study (NBDPS) is a multisite, population‐based, case–control study of genetic and nongenetic risk factors for major structural birth defects. Eligible women had a pregnancy affected by a bir…
View article: Correction: Functional screen identifies regulators of murine hematopoietic stem cell repopulation
Correction: Functional screen identifies regulators of murine hematopoietic stem cell repopulation Open
Vol. 213, No. 3, March 7, 2016. Pages [433–449][1].
The authors regret that in their original paper, the gene Zfp521 appeared as Zfp251 . The online HTML and PDF versions of this article have been corrected. Figs. 1, 3, and 5 have also be…
View article: Functional screen identifies regulators of murine hematopoietic stem cell repopulation
Functional screen identifies regulators of murine hematopoietic stem cell repopulation Open
Understanding the molecular regulation of hematopoietic stem and progenitor cell (HSPC) engraftment is paramount to improving transplant outcomes. To discover novel regulators of HSPC repopulation, we transplanted >1,300 mice with shRNA…