Case report: malignant hypertension associated with catecholamine excess in a patient with Leigh syndrome by Ana Solis, Joshua Shimony, Marwan Shinawi, Kevin T. Barton

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Neurological Improvement in a Patient with Cerebroretinal Microangiopathy with Calcifications and Cysts-1 Treated with Bevacizumab by Siefaddeen Sharayah, Shannon C. Agner, Marwan Shinawi, David Rudnick, Soe Mar

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P389: Kagami-Ogata syndrome: The indispensable role of clinical assessment and utilization of advanced molecular technologies by Nathaniel Jensen, Scott Saunders, Tsutomu Ogata, Ryan Longman, Masayo Kagami, Maria Laura Duque Lasio, Marwan Shinawi

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Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome by Alejandro F. Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P. Dehner, Katherine Semenkovich, Ana María Arbeláez

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A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema by George G. Schweitzer, Connie Gan, Robert C. Bucelli, Daniel Wegner, Robert E. Schmidt, Marwan Shinawi, Brian N. Finck, Rita T. Brookheart

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P697: Prenatal diagnosis and postnatal clinical course of a fetus with low-level mosaic trisomy 17q by Reza Ghasemi, Cassandra Trammel, Nathaniel Jensen, Amie Stanley, Sarah Smith, Molly Schroeder, Julie Neidich, Marwan Shinawi, Sherri Jackson, Katarzyna Polonis

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P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7 by Parith Wongkittichote, Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Carvalho, Adrianna Banzzatto Ortega, Claudio de Gusmao, Matheus Castro, Tomi Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi

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Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease by Raymond Y. Wang, Kyle D. Rudser, Donald R. Dengel, Nicholas Evanoff, Julia Steinberger, Nina Movsesyan, Robert Garrett, Katherine Christensen, Deborah Boylan, Stephen R. Braddock, Marwan Shinawi, Qi Gan, Adriana M. Montaño

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Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis by Kellan P. Weston, Xiaoyi Gao, Jinghan Zhao, Kwang-Soo Kim, Susan E. Maloney, Jill Gotoff, Sumit Parikh, Yen-Chen Leu, Kuen-Phon Wu, Marwan Shinawi, Joshua P. Steimel, Joseph S. Harrison, Jason J. Yi

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Novel parent-of-origin-specific differentially methylated loci on chromosome 16 by Katharina V. Schulze, Przemyslaw Szafranski, Harry Lesmana, Robert J. Hopkin, Aaron Hamvas, Jennifer A. Wambach, Marwan Shinawi, Gladys Zapata, Claudia M. B. Carvalho, Qian Liu, Justyna A. Karolak, James R. Lupski, Neil A. Hanchard, Paweł Stankiewicz

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2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis by Adam D. Kennedy, Kirk L. Pappan, Taraka Donti, Mauricio R. Delgado, Marwan Shinawi, Toni S. Pearson, Seema R. Lalani, William J. Craigen, V. Reid Sutton, Anne M. Evans, Qin Sun, Lisa T. Emrick, Lisa T. Emrick, Sarah H. Elsea

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A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study by Matheus Vernet Machado Bressan Wilke, Bibiana Mello de Oliveira, Rodrigo Tzovenos Starosta, Marwan Shinawi, Liang Lu, Mai He, Yamin Ma, Janis Stoll, Carolina Fischinger Moura de Souza, Ana Cecilia Menezes de Siqueira, Sandra Maria Gonçalves Vieira, Carlos Thadeu Cerski, Lilia Farret Refosco, Ida Vanessa Doederlein Schwartz

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Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome by Amanda M. Smith, Taylor A. LaValle, Marwan Shinawi, Sai M. Ramakrishnan, Haley J. Abel, Cheryl A. Hill, Nicole M. Kirkland, Michael P. Rettig, Nichole M. Helton, Sharon E. Heath, Francesca Ferraro, David Y. Chen, Sangeeta Adak, Clay F. Semenkovich, Diana L. Christian, Jenna R. Martin, Harrison W. Gabel, Christopher A. Miller, Timothy J. Ley

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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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O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients* by Ryan Taft, Erin Thorpe, John Belmont, Taylor Williams, Chad Shaw, Jason Button, Julia Ortega, Keisha Robinson, Marilyn Jones, Diane Masser-Frye, Donald Basel, Chester Brown, Keith Vaux, Aime Lumaka, Fabio Sirchia, Milagros Dueñas Roque, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Nora Urraca, Alejandra Salguero, Samuel Wiafe, Romina Foster-Bonds, Erin Royer, Michelle Gallas, Pilar Magoulas, Adeline Vanderver, Marwan Shinawi, Alan Taylor, Kristen Fishler, Duncan Henry, Daria Salyakina, Kate Gibson, Melissa Lah, Alka Malhotra, James Avecilla, Andrew Warren, Denise Perry, Max Arseneault

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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome by Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders by Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden

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