<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Posey, Jennifer E</style></author><author><style face="normal" font="default" size="100%">O'Donnell-Luria, Anne H</style></author><author><style face="normal" font="default" size="100%">Chong, Jessica X</style></author><author><style face="normal" font="default" size="100%">Harel, Tamar</style></author><author><style face="normal" font="default" size="100%">Jhangiani, Shalini N</style></author><author><style face="normal" font="default" size="100%">Coban Akdemir, Zeynep H</style></author><author><style face="normal" font="default" size="100%">Buyske, Steven</style></author><author><style face="normal" font="default" size="100%">Pehlivan, Davut</style></author><author><style face="normal" font="default" size="100%">Carvalho, Claudia M B</style></author><author><style face="normal" font="default" size="100%">Baxter, Samantha</style></author><author><style face="normal" font="default" size="100%">Sobreira, Nara</style></author><author><style face="normal" font="default" size="100%">Liu, Pengfei</style></author><author><style face="normal" font="default" size="100%">Wu, Nan</style></author><author><style face="normal" font="default" size="100%">Rosenfeld, Jill A</style></author><author><style face="normal" font="default" size="100%">Kumar, Sushant</style></author><author><style face="normal" font="default" size="100%">Avramopoulos, Dimitri</style></author><author><style face="normal" font="default" size="100%">White, Janson J</style></author><author><style face="normal" font="default" size="100%">Doheny, Kimberly F</style></author><author><style face="normal" font="default" size="100%">Witmer, P Dane</style></author><author><style face="normal" font="default" size="100%">Boehm, Corinne</style></author><author><style face="normal" font="default" size="100%">Sutton, V Reid</style></author><author><style face="normal" font="default" size="100%">Muzny, Donna M</style></author><author><style face="normal" font="default" size="100%">Boerwinkle, Eric</style></author><author><style face="normal" font="default" size="100%">Günel, Murat</style></author><author><style face="normal" font="default" size="100%">Nickerson, Deborah A</style></author><author><style face="normal" font="default" size="100%">Mane, Shrikant</style></author><author><style face="normal" font="default" size="100%">MacArthur, Daniel G</style></author><author><style face="normal" font="default" size="100%">Gibbs, Richard A</style></author><author><style face="normal" font="default" size="100%">Hamosh, Ada</style></author><author><style face="normal" font="default" size="100%">Lifton, Richard P</style></author><author><style face="normal" font="default" size="100%">Matise, Tara C</style></author><author><style face="normal" font="default" size="100%">Rehm, Heidi L</style></author><author><style face="normal" font="default" size="100%">Gerstein, Mark</style></author><author><style face="normal" font="default" size="100%">Bamshad, Michael J</style></author><author><style face="normal" font="default" size="100%">Valle, David</style></author><author><style face="normal" font="default" size="100%">Lupski, James R</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Centers for Mendelian Genomics</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Insights into genetics, human biology and disease gleaned from family based genomic studies.</style></title><secondary-title><style face="normal" font="default" size="100%">Genet Med</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Genet. Med.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2019</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2019 04</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">21</style></volume><pages><style face="normal" font="default" size="100%">798-812</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Identifying genes and variants contributing to rare disease phenotypes and Mendelian conditions informs biology and medicine, yet potential phenotypic consequences for variation of &gt;75% of the ~20,000 annotated genes in the human genome are lacking. Technical advances to assess rare variation genome-wide, particularly exome sequencing (ES), enabled establishment in the United States of the National Institutes of Health (NIH)-supported Centers for Mendelian Genomics (CMGs) and have facilitated collaborative studies resulting in novel &quot;disease gene&quot; discoveries. Pedigree-based genomic studies and rare variant analyses in families with suspected Mendelian conditions have led to the elucidation of hundreds of novel disease genes and highlighted the impact of de novo mutational events, somatic variation underlying nononcologic traits, incompletely penetrant alleles, phenotypes with high locus heterogeneity, and multilocus pathogenic variation. Herein, we highlight CMG collaborative discoveries that have contributed to understanding both rare and common diseases and discuss opportunities for future discovery in single-locus Mendelian disorder genomics. Phenotypic annotation of all human genes; development of bioinformatic tools and analytic methods; exploration of non-Mendelian modes of inheritance including reduced penetrance, multilocus variation, and oligogenic inheritance; construction of allelic series at a locus; enhanced data sharing worldwide; and integration with clinical genomics are explored. Realizing the full contribution of rare disease research to functional annotation of the human genome, and further illuminating human biology and health, will lay the foundation for the Precision Medicine Initiative.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">4</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/30655598?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Schulze, Katharina V</style></author><author><style face="normal" font="default" size="100%">Szafranski, Przemyslaw</style></author><author><style face="normal" font="default" size="100%">Lesmana, Harry</style></author><author><style face="normal" font="default" size="100%">Hopkin, Robert J</style></author><author><style face="normal" font="default" size="100%">Hamvas, Aaron</style></author><author><style face="normal" font="default" size="100%">Wambach, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Shinawi, Marwan</style></author><author><style face="normal" font="default" size="100%">Zapata, Gladys</style></author><author><style face="normal" font="default" size="100%">Carvalho, Claudia M B</style></author><author><style face="normal" font="default" size="100%">Liu, Qian</style></author><author><style face="normal" font="default" size="100%">Karolak, Justyna A</style></author><author><style face="normal" font="default" size="100%">Lupski, James R</style></author><author><style face="normal" font="default" size="100%">Hanchard, Neil A</style></author><author><style face="normal" font="default" size="100%">Stankiewicz, Paweł</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Novel parent-of-origin-specific differentially methylated loci on chromosome 16.</style></title><secondary-title><style face="normal" font="default" size="100%">Clin Epigenetics</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Clin Epigenetics</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2019</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2019 Apr 08</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">11</style></volume><pages><style face="normal" font="default" size="100%">60</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns with the lethal developmental lung disease, alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Interestingly, ACDMPV-causative deletions, involving FOXF1 or its lung-specific upstream enhancer at 16q24.1, arise almost exclusively on the maternally inherited chromosome 16. Given the phenotypic similarities between upd(16)mat and ACDMPV, together with parental allelic bias in ACDMPV, we hypothesized that there may be unknown imprinted loci mapping to chromosome 16 that become functionally unmasked by chromosomal structural variants.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;To identify parent-of-origin biased DNA methylation, we performed high-resolution bisulfite sequencing of chromosome 16 on peripheral blood and cultured skin fibroblasts from individuals with maternal or paternal upd(16) as well as lung tissue from patients with ACDMPV-causative 16q24.1 deletions and a normal control. We identified 22 differentially methylated regions (DMRs) with ≥ 5 consecutive CpG methylation sites and varying tissue-specificity, including the known DMRs associated with the established imprinted gene ZNF597 and DMRs supporting maternal methylation of PRR25, thought to be paternally expressed in lymphoblastoid cells. Lastly, we found evidence of paternal methylation on 16q24.1 near LINC01082 mapping to the FOXF1 enhancer.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;Using high-resolution bisulfite sequencing to evaluate DNA methylation across chromosome 16, we found evidence for novel candidate imprinted loci on chromosome 16 that would not be evident in array-based assays and could contribute to the birth defects observed in patients with upd(16)mat or in ACDMPV.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/30961659?dopt=Abstract</style></custom1></record></records></xml>