@article {559,
	title = {Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.},
	journal = {J Pediatr Genet},
	volume = {7},
	year = {2018},
	month = {2018 Dec},
	pages = {164-173},
	abstract = {<p>Wolf-Hirschhorn syndrome (WHS) is caused by partial deletion of the short arm of chromosome 4 and is characterized by dysmorphic facies, congenital heart defects, intellectual/developmental disability, and increased risk for congenital diaphragmatic hernia (CDH). In this report, we describe a stillborn girl with WHS and a large CDH. A literature review revealed 15 cases of WHS with CDH, which overlap a 2.3-Mb CDH critical region. We applied a machine-learning algorithm that integrates large-scale genomic knowledge to genes within the 4p16.3 CDH critical region and identified  ,  ,  ,  ,  ,  ,  , and  as genes whose haploinsufficiency may contribute to the development of CDH.</p>},
	issn = {2146-4596},
	doi = {10.1055/s-0038-1655755},
	author = {Callaway, Danielle A and Campbell, Ian M and Stover, Samantha R and Hernandez-Garcia, Andres and Jhangiani, Shalini N and Punetha, Jaya and Paine, Ingrid S and Posey, Jennifer E and Muzny, Donna and Lally, Kevin P and Lupski, James R and Shaw, Chad A and Fernandes, Caraciolo J and Scott, Daryl A}
}
