Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome von Poll, Sarah R, Martin, Renan, Wohler, Elizabeth, Partan, Elizabeth S, Walek, Elizabeth, Salman, Shaima, Groepper, Daniel, Kratz, Lisa, Cernach, Mirlene, Jesus-Garcia, Reynaldo, Haldeman-Englert, Chad, Choi, Yoon Jae, Morris, Carol D, Cohen, Bernard, Hoover-Fong, Julie, Valle, David, Semenza, Gregg L, Sobreira, Nara L M

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Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus von Shinde, Vishal, Sobreira, Nara, Wohler, Elizabeth S, Maiti, George, Hu, Nan, Silvestri, Giuliana, George, Sonia, Jackson, Jonathan, Chakravarti, Aravinda, Willoughby, Colin E, Chakravarti, Shukti

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Identification and analyses of exonic and copy number variants in spastic paraplegia von Shafique, Anum, Nadeem, Ayesha, Aslam, Faiza, Manzoor, Humera, Noman, Muhammad, Wohler, Elizabeth, Witmer, P. Dane, Sobreira, Nara, Naz, Sadaf

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P224: Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism von Montano, Carolina, Morina, Luke, Wohler, Elizabeth, Timp, Winston, Sobreira, Nara

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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data von Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S, Antonescu, Corina, Posey, Jennifer E, Coban-Akdemir, Zeynep, Jhangiani, Shalini N, Doheny, Kimberly F, Lupski, James R, Valle, David, Hamosh, Ada, Sobreira, Nara

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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene von Sobreira, Nara L M, Cirulli, Elizabeth T, Avramopoulos, Dimitrios, Wohler, Elizabeth, Oswald, Gretchen L, Stevens, Eric L, Ge, Dongliang, Shianna, Kevin V, Smith, Jason P, Maia, Jessica M, Gumbs, Curtis E, Pevsner, Jonathan, Thomas, George, Valle, David, Hoover-Fong, Julie E, Goldstein, David B

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Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex von Jelin, Angie C, Sopko, Nikolai, Sobreira, Nara, Boyadjiev, Simeon A, Wohler, Elizabeth, Morrill, Christian, Witmer, P Dane, Michaud, Jason, Valle, David, Gearhart, John, Dicarlo, Heather

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The impact of chromosomal microarray on clinical management: a retrospective analysis von Henderson, Lindsay B., Applegate, Carolyn D., Wohler, Elizabeth, Sheridan, Molly B., Hoover-Fong, Julie, Batista, Denise A.S.

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Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population von Islam, Farrah, Htun, Stephanie, Lai, Li‐Wen, Krall, Max, Poranki, Menitha, Martin, Pierre‐Marie, Sobreira, Nara, Wohler, Elizabeth S., Yu, Jingwei, Moore, Anthony T., Slavotinek, Anne M.

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Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy von Motta, Fabiana, Martin, Renan, Porto, Fernanda, Wohler, Elizabeth, Resende, Rosane, Gomes, Caio, Pesquero, João, Sallum, Juliana

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Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants von Gottschalk, Laura B, Vecchio-Pagan, Briana, Sharma, Neeraj, Han, Sangwoo T, Franca, Arianna, Wohler, Elizabeth S, Batista, Denise A.S, Goff, Loyal A, Cutting, Garry R

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Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis von Sobreira, Nara, Wohler, Elizabeth, Laham, Ailee, Hufnagel, Robert B., Sisk, Robert A., Ahmed, Zubair M.

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Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy von Motta, Fabiana L, Martin, Renan P, Porto, Fernanda B O, Wohler, Elizabeth S, Resende, Rosane G, Gomes, Caio P, Pesquero, João B, Sallum, Juliana M F

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eP251: Vascular anomalies in patients with Maffucci syndrome von Wohler, Elizabeth, Ogawa, Jessica, Sobreira, Nara

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Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function von Miller, Nathaniel D., Nance, Melonie A., Wohler, Elizabeth S., Hoover-Fong, Julie E., Lisi, Emily, Thomas, George H., Pevsner, Jonathan

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3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition von Li, Feng, Lisi, Emily C, Wohler, Elizabeth S, Hamosh, Ada, Batista, Denise A.S

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Ring Chromosome 17 Syndrome—A Case Report and Discussion of Diagnostic Methods von Kim, Sun Young, Wohler, Elizabeth, Gutierrez, Maria Jimena, Sadreameli, Christy, Kossoff, Eric, Sobreira, Nara Lygia

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Mapping Genetic Susceptibility to Stenosis in the Proximal Airway von Sharif, Kayvon, Tierney, William S., Davis, Ruth J., Wohler, Elizabeth, Sobreira, Nara, Hillel, Alexander T., Collins, Samuel, Ramirez‐Solano, Marisol, Sheng, Quanhu, Gelbard, Alexander

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The impact of GeneMatcher on international data sharing and collaboration von Hamosh, Ada, Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S., Antonescu, Corina, Doheny, Kimberly F., Valle, David, Sobreira, Nara

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Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge–Weber syndrome von Yeom, SangEun, Cohen, Bernard, Weiss, Clifford R., Montano, Carolina, Wohler, Elizabeth, Sobreira, Nara, Hammill, Adrienne M., Comi, Anne

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