PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders by Tsai, Ellen A., Berman, Micah A., Conlin, Laura K., Rehm, Heidi L., Francey, Lauren J., Deardorff, Matthew A., Holst, Jenelle, Kaur, Maninder, Gallant, Emily, Clark, Dinah M., Glessner, Joseph T., Jensen, Shane T., Grant, Struan F.A., Gruber, Peter J., Hakonarson, Hakon, Spinner, Nancy B., Krantz, Ian D.

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Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies by Clark, Dinah M., Sherer, Ilana, Deardorff, Matthew A., Byrne, Janice L.B., Loomes, Kathleen M., Nowaczyk, Malgorzata J.M., Jackson, Laird G., Krantz, Ian D.

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Germline mosaicism in Cornelia de Lange syndrome by Slavin, Thomas P., Lazebnik, Noam, Clark, Dinah M., Vengoechea, Jaime, Cohen, Leslie, Kaur, Maninder, Konczal, Laura, Crowe, Carol A., Corteville, Jane E., Nowaczyk, Malgorzata J., Byrne, Janice L., Jackson, Laird G., Krantz, Ian D.

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Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies by Clark, Dinah M., Sherer, Ilana, Deardorff, Matthew A., Byrne, Janice L.B., Loomes, Kathleen M., Nowaczyk, Malgorzata J.M., Jackson, Laird G., Krantz, Ian D.

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Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus by Gallant, Emily, BA, Francey, Lauren, MS, Fetting, Heather, BS, Kaur, Maninder, MS, Hakonarson, Hakon, MD, Clark, Dinah, MS, Devoto, Marcella, PhD, Krantz, Ian D., MD

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Clinical Report: Germline Mosaicism in Cornelia de Lange Syndrome by Slavin, Thomas P., Lazebnik, Noam, Clark, Dinah M., Vengoechea, Jaime, Cohen, Leslie, Kaur, Maninder, Konczal, Laura, Crowe, Carol A., Corteville, Jane E., Nowaczyk, Malgorzata J., Byrne, Janice L., Jackson, Laird G., Krantz, Ian D.

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Germline mosaicism in Cornelia de Lange syndrome by Slavin, Thomas P., Lazebnik, Noam, Clark, Dinah M., Vengoechea, Jaime, Cohen, Leslie, Kaur, Maninder, Konczal, Laura, Crowe, Carol A., Corteville, Jane E., Nowaczyk, Malgorzata J., Byrne, Janice L., Jackson, Laird G., Krantz, Ian D.

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Reduced Penetrance of ALG9-Associated Cystic Kidney Disease in a Real-World Cohort: TH-PO372 by Beretich, Lauren, Abdullatif, Umayma, Alrejjal, Kenan M., Hendricks, Emily, Raible, Darbey, Clark, Dinah, Punj, Sumit, Abdellatif, Abdul A.

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle by DEARDORFF, Matthew A, BANDO, Masashige, COLE, Kathryn E, DE BAERE, Elfride, DECROOS, Christophe, DI DONATO, Nataliya, ERNST, Sarah, FRANCEY, Lauren J, GYFTODIMOU, Yolanda, HIRASHIMA, Kyotaro, HULLINGS, Melanie, ISHIKAWA, Yuuichi, NAKATO, Ryuichiro, JAULIN, Christian, KAUR, Maninder, KIYONO, Tohru, LOMBARDI, Patrick M, MAGNAGHI-JAULIN, Laura, MORTIER, Geert R, NOZAKI, Naohito, PETERSEN, Michael B, SEIMIYA, Hiroyuki, SIU, Victoria M, WATRIN, Erwan, SUZUKI, Yutaka, TAKAGAKI, Kentaro, WILDE, Jonathan J, WILLEMS, Patrick J, PRIGENT, Claude, GILLESSEN-KAESBACH, Gabriele, CHRISTIANSON, David W, KAISER, Frank J, JACKSON, Laird G, HIROTA, Toru, ITOH, Takehiko, KRANTZ, Ian D, SHIRAHIGE, Katsuhiko, MINAMINO, Masashi, SAITOH, Katsuya, KOMATA, Makiko, KATOU, Yuki, CLARK, Dinah

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Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease by Clark, Dinah, Burns, Robert, Bloom, Michelle S., Lim, Karen Phaik Har, Li, Lili, Vincent, Lisa M., Xie, Jing, Xue, Yuan, Punj, Sumit

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Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors by Singh, Gurmukteshwar, Gohh, Reginald, Clark, Dinah, Kalra, Kartik, Das, Manoj, Bradauskaite, Gitana, Bleyer, Anthony J, Tanriover, Bekir, Chang, Alex R, Anand, Prince M

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance by Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, Paldeep S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.

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Phenotypes and genotypes in individuals with SMC1A variants by Huisman, Sylvia, Mulder, Paul A., Redeker, Egbert, Bader, Ingrid, Bisgaard, Anne‐Marie, Brooks, Alice, Cereda, Anna, Cinca, Constanza, Clark, Dinah, Cormier‐Daire, Valerie, Deardorff, Matthew A., Diderich, Karin, Elting, Mariet, van Essen, Anthonie, FitzPatrick, David, Gervasini, Cristina, Gillessen‐Kaesbach, Gabriele, Girisha, Katta M., Hilhorst‐Hofstee, Yvonne, Hopman, Saskia, Horn, Denise, Isrie, Mala, Jansen, Sandra, Jespersgaard, Cathrine, Kaiser, Frank J., Kaur, Maninder, Kleefstra, Tjitske, Krantz, Ian D., Lakeman, Phillis, Landlust, Annemiek, Lessel, Davor, Michot, Caroline, Moss, Jo, Noon, Sarah E., Oliver, Chris, Parenti, Ilaria, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Russo, Silvia, Selicorni, Angelo, Tümer, Zeynep, Vorstenbosch, Rieneke, Wenger, Tara L., van Balkom, Ingrid, Piening, Sigrid, Wierzba, Jolanta, Hennekam, Raoul C.

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Development, behaviour and autism in individuals with SMC1A variants by Mulder, Paul A., Huisman, Sylvia, Landlust, Annemiek M., Moss, Jo, Piening, Sigrid, Hennekam, Raoul C., van Balkom, Ingrid D.C.

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3,4-Dihydro-2H-benzo[1,4]oxazine derivatives as 5-HT6 receptor antagonists by ZHAO, Shu-Hai, BERGER, Jacob, CLARK, Robin D, SETHOFER, Steven G, KRAUSS, Nancy E, BROTHERS, Julie M, MARTIN, Renee S, MISNER, Dinah L, SCHWAB, Dietmar, ALEXANDROVA, Ludmila

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SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation by Kamath, Binita M, Thiel, Brian D, Gai, Xiaowu, Conlin, Laura K, Munoz, Pedro S, Glessner, Joseph, Clark, Dinah, Warthen, Daniel M, Shaikh, Tamim H, Mihci, Ercan, Piccoli, David A, Grant, Struan F.A, Hakonarson, Hakon, Krantz, Ian D, Spinner, Nancy B

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Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in... by Gallant, Emily, Francey, Lauren, Tsai, Ellen A., Berman, Micah, Zhao, Yaru, Fetting, Heather, Kaur, Maninder, Deardorff, Matthew A., Wilkens, Alisha, Clark, Dinah, Hakonarson, Hakon, Rehm, Heidi L., Krantz, Ian D.

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SNP array mapping of 20p deletions: Genotypes, Phenotypes and Copy Number Variation by Kamath, Binita M., Thiel, Brian D., Gai, Xiaowu, Conlin, Laura K., Munoz, Pedro S., Glessner, Joseph, Clark, Dinah, Warthen, Daniel M., Shaikh, Tamim H., Mihci, Ercan, Piccoli, David A., Grant, Struan F.A., Hakonarson, Hakon, Krantz, Ian D., Spinner, Nancy B.

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3,4-Dihydro-2H-benzo[1,4]oxazine derivatives as 5-HT sub(6) receptor antagonists by Zhao, Shu-Hai, Berger, Jacob, Clark, Robin D, Sethofer, Steven G, Krauss, Nancy E, Brothers, Julie M, Martin, Renee S, Misner, Dinah L, Schwab, Dietmar, Alexandrova, Ludmila

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3,4-Dihydro-2 H-benzo[1,4]oxazine derivatives as 5-HT 6 receptor antagonists by Zhao, Shu-Hai, Berger, Jacob, Clark, Robin D., Sethofer, Steven G., Krauss, Nancy E., Brothers, Julie M., Martin, Renee S., Misner, Dinah L., Schwab, Dietmar, Alexandrova, Ludmila

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