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1.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Am J Hum Genet
; 110(10): 1787-1803, 2023 10 05.
Article
in English
| MEDLINE | ID: mdl-37751738
2.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Article
in English
| MEDLINE | ID: mdl-29656860
3.
Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.
Proc Natl Acad Sci U S A
; 115(20): 5247-5252, 2018 05 15.
Article
in English
| MEDLINE | ID: mdl-29712845
4.
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
PLoS Genet
; 14(12): e1007822, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30532227
5.
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.
Am J Med Genet A
; 176(11): 2435-2445, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30079495
6.
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.
Hum Genet
; 136(6): 679-691, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28303347
7.
Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.
Am J Pathol
; 186(10): 2532-43, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27565037
8.
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.
Proc Natl Acad Sci U S A
; 111(34): 12450-5, 2014 Aug 26.
Article
in English
| MEDLINE | ID: mdl-25107291
9.
Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.
BMC Biol
; 14: 59, 2016 07 13.
Article
in English
| MEDLINE | ID: mdl-27412481
10.
De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.
Am J Med Genet A
; 170(9): 2457-61, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27363585
11.
Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.
Proc Natl Acad Sci U S A
; 109(8): 2978-83, 2012 Feb 21.
Article
in English
| MEDLINE | ID: mdl-22315423
12.
Development of a comprehensive cardiovascular disease genetic risk assessment test.
medRxiv
; 2024 May 09.
Article
in English
| MEDLINE | ID: mdl-38766118
13.
Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases.
Front Cardiovasc Med
; 10: 1272433, 2023.
Article
in English
| MEDLINE | ID: mdl-37915745
14.
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
Am J Med Genet A
; 158A(12): 3148-58, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23165946
15.
Erratum to: Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.
BMC Biol
; 14(1): 73, 2016 Sep 01.
Article
in English
| MEDLINE | ID: mdl-27587011
16.
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
Am J Med Genet A
; 152A(9): 2176-84, 2010 Sep.
Article
in English
| MEDLINE | ID: mdl-20683980
17.
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
Am J Med Genet A
; 152A(10): 2493-504, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20799323
18.
A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.
Birth Defects Res A Clin Mol Teratol
; 85(1): 76-81, 2009 Jan.
Article
in English
| MEDLINE | ID: mdl-19089858
19.
Laparoscopic appendectomies: experience of a surgical unit.
Minim Invasive Ther Allied Technol
; 18(4): 242-7, 2009.
Article
in English
| MEDLINE | ID: mdl-20334502
20.
Evaluation of 1p36 markers and clinical outcome in a skull base chordoma study.
Neuro Oncol
; 10(1): 52-60, 2008 Feb.
Article
in English
| MEDLINE | ID: mdl-18094369