Dysmorphology in the Era of Genomic Diagnosis by Anna C. E. Hurst, Nathaniel H. Robin

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Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome by Katherine Buchanan, Erin Greenup, Anna C. E. Hurst, Bhuvana Sunil, Ambika P. Ashraf

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A cost-utility analysis of BRCA1 and BRCA2 testing in high-risk breast cancer patients and family members in Thailand: a cost-effective policy in resource-limited settings by Pongtawat Lertwilaiwittaya, Pongtawat Lertwilaiwittaya, Pongtawat Lertwilaiwittaya, Pongtawat Lertwilaiwittaya, Narisa Tantai, Narisa Tantai, Satanun Maneeon, Satanun Maneeon, Sophittha Kongbunrak, Sophittha Kongbunrak, Nongyao Nonpanya, Anna C. E. Hurst, Varalak Srinonprasert, Varalak Srinonprasert, Manop Pithukpakorn, Manop Pithukpakorn

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Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing by Kevin M. Bowling, Michelle L. Thompson, Melissa A. Kelly, Sarah Scollon, Anne M. Slavotinek, Bradford C. Powell, Brian M. Kirmse, Laura G. Hendon, Kyle B. Brothers, Bruce R. Korf, Gregory M. Cooper, John M. Greally, Anna C. E. Hurst

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DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental Syndrome by Eline A. Verberne, Liselot van der Laan, Sadegheh Haghshenas, Kathleen Rooney, Michael A. Levy, Mariëlle Alders, Saskia M. Maas, Sandra Jansen, Agne Lieden, Britt-Marie Anderlid, Louise Rafael-Croes, Philippe M. Campeau, Ayeshah Chaudhry, David A. Koolen, Rolph Pfundt, Anna C. E. Hurst, Frederic Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Bertrand Isidor, Marcel M. A. M. Mannens, Bekim Sadikovic, Peter Henneman, Mieke M. van Haelst

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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway by Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S. Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A. Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, Nadra Nasser Samra, Juliann M. Savatt, Natasha L. Rudy, Chiara De Luca, Paola Fortugno, Susan M. White, Peter Krawitz, Anna C.E. Hurst, Karsten Niefind, Joachim Jose, Francesco Brancati, Peter Nürnberg, Muhammad Sajid Hussain

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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. by Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stranecky, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Cyril Mignot, Marlene Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper

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Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit by Amy A. Lemke, Michelle L. Thompson, Emily C. Gimpel, Katelyn C. McNamara, Carla A. Rich, Candice R. Finnila, Meagan E. Cochran, James M. J. Lawlor, Kelly M. East, Kevin M. Bowling, Donald R. Latner, Susan M. Hiatt, Michelle D. Amaral, Whitley V. Kelley, Veronica Greve, David E. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah L. Deans, Carly Tuura, Trent Hughes, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick-Esteve, Anna C. E. Hurst, Brian M. Kirmse, Renate Savich, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper, Kyle B. Brothers

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders by Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu

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