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Microcephaly-chorioretinopathy syndrome, autosomal recessive form: a case report Autor Rosa, Rafael Fabiano Machado, Enk, Flávia, Camargo, Korine, Travi, Giovanni Marco, Freitas, André, Rosa, Rosana Cardoso Manique, Graziadio, Carla, Mattos, Vinicius Freitas de, Zen, Paulo Ricardo Gazzola

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Loss-of-function variants in HIVEP2 are a cause of intellectual disability Autor Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele, Tim M. Strom, Dagmar Wieczorek, Martin Zenker, Siddharth Gupta, Julie S. Cohen, Alexander M. Zink, Sakkubai Naidu

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<i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease Autor Julia Vodopiutz, Rainer Seidl, Daniela Prayer, Muhammad Imran Khan, Johannes A. Mayr, Berthold Streubel, Jens-Oliver Steiß, Andreas Hahn, Dagmar Csaicsich, Christel Castro, Mirna Assoum, Thomas Müller, Dagmar Wieczorek, Grazia M.S. Mancini, Carolin E. Sadowski, Nicolas Lévy, André Mégarbané, Koumudi Godbole, Denny Schanze, Friedhelm Hildebrandt, Valérie Delague, Andreas Janecke, Martin Zenker

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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies Autor Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julián A. Martínez-Agosto, Natalia Gomez‐Ospina, Natalie M. Gallant, Jonathan A. Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka‐Kowalnik, Michelle Fox, Joshua L. Deignan, Éric Vilain, Emily Hendricks, Margaret Harr, Sarah E. Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H. Zackai, Ian D. Krantz, A. Micheil Innes, Stanley F. Nelson, Wayne W. Grody, Fabiola Quintero‐Rivera

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Sex-dependent association of common variants of microcephaly genes with brain structure Autor Lars M. Rimol, Ingrid Agartz, Srdjan Djurovic, Andrew Brown, J. Cooper Roddey, Anna K. Kähler, Morten Mattingsdal, Lavinia Athanasiu, Alexander H. Joyner, Nicholas J. Schork, Eric Halgren, Kjetil Sundet, Ingrid Melle, Anders M. Dale, Ole A. Andreassen, Michael W. Weiner, Leon J. Thal, Ronald Petersen, Clifford R. Jack, William J. Jagust, John Q. Trojanowki, Arthur W. Toga, Laurel Beckett, Robert C. Green, Anthony Gamst, William Z. Potter, Tom Montine, Dale Anders, Matt A. Bernstein, Joel P. Felmlee, Nick C. Fox, Paul M. Thompson, Norbert Schuff, Gene E. Alexander, Dan Bandy, Robert A. Koeppe, Norm Foster, Eric M. Reiman, Kewei Chen, John Q. Trojanowki, Les Shaw, Virginia M.‐Y. Lee, Magdalena Korecka, Arthur W. Toga, Karen Crawford, Scott Neu, Danielle Harvey, Anthony Gamst, John Kornak, Zaven Kachaturian, Richard Frank, Peter J. Snyder, Susan Molchan, Jeffrey Kaye, Remi Vorobik, Joseph Quinn, Lon S. Schneider, Sonia Pawluczyk, Bryan Spann, Adam Fleisher, Helen Vanderswag, Judith L. Heidebrink, Joanne Lord, Kris Johnson, Rachelle S. Doody, Javier Villanueva‐Meyer, Munir Chowdhury, Yaakov Stern, Lawrence S. Honig, Karen L. Bell, John C. Morris, Mark A. Mintun, Stacy Schneider, Daniel Marson, Randall Griffith, Beverly Badger, Hillel Grossman, Cheuk Y. Tang, Jessica Stern, Leyla deToledo‐Morrell, Raj C. Shah, Julie Bach, Ranjan Duara, Richard Isaacson, Silvia Strauman, Marilyn S. Albert, Julia Pedroso, Jaimie Toroney, Henry Rusinek, Mony J. de Leon, Susan M De Santi, P. Murali Doraiswamy, Jeffrey R. Petrella, Marilyn Aiello, Christopher M. Clark, Cassie Pham, Jessica Nuñez, Charles D. Smith, Curtis A. Given, Peter Hardy

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<i>Rbm8a</i>Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly Autor Hanqian Mao, Louis‐Jan Pilaz, John J. McMahon, Christelle Golzio, Danwei Wu, Lei Shi, Nicholas Katsanis, Debra L. Silver

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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss Autor Akemi Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo D. Garnica, Edward S. Gratz, Matthew A. Deardorff, Alisha Wilkins, Xilma R. Ortiz‐González, Katherine D. Mathews, Karin Panzer, Eva H. Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker‐Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

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Solitary median maxillary central incisor (SMMCI) syndrome Autor Roger K. Hall

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What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH) Autor Deborah Morris‐Rosendahl, Angela M. Kaindl

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Molecular genetics of human primary microcephaly: an overview Autor Muhammad Faheem, Muhammad Imran Naseer, Mahmood Rasool, Adeel Chaudhary, Taha Kumosani, Asad Muhammad Ilyas, Peter Natesan Pushparaj, Farid Ahmed, Hussein Algahtani, Mohammad H. Al-Qahtani, Hasan Saleh Jamal

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Human facial dysostoses Autor Dagmar Wieczorek

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Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies Autor Biljana Ilkovski, Alistair T. Pagnamenta, Gina O’Grady, Taroh Kinoshita, Malcolm F. Howard, Monkol Lek, Brett Thomas, Anne Turner, John Christodoulou, David Sillence, Samantha J.L. Knight, Niko Popitsch, David A. Keays, Consuelo Anzilotti, Anne Goriely, Leigh B. Waddell, Fabienne Brilot, Kathryn N. North, Noriyuki Kanzawa, Daniel G. MacArthur, Jenny C. Taylor, Usha Kini, Yoshiko Murakami, Nigel F. Clarke

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DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome Autor Karine Boufleur, Carlos Alberto Scrideli, Elvis Terci Valera, Luíz Gonzaga Tone, Tom Vulliamy, L. Karla Arruda, Pérsio Roxo Júnior

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Cri du Chat syndrome Autor Paola Cerruti Mainardi

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Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects Autor Anne Slavotinek, Sarah Garcia, Gemma Chandratillake, Tanya Bardakjian, Ehsan Ullah, Di Wu, Kaoru Umeda, R. Lao, Paul Ling-Fung Tang, Eunice Wan, Lohith Madireddy, Svetlana Lyalina, Bryce A. Mendelsohn, Shannon Dugan, Jeanie Tirch, R. Tischler, Jason Harris, Michael J. Clark, Stephen A. Chervitz, A. Patwardhan, John West, Philip C. Ursell, Alejandra de Alba Campomanes, Adele Schneider, Pui‐Yan Kwok, Sergio E. Baranzini, R.O. Chen

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Hypomelanosis of Ito. Neurological Complications in 34 Cases Autor I Pascual-Castroviejo, Luisa López-Rodriguez, María de la Cruz Medina, Cipriano Salamanca-Maesso, Carmen Roche Herrero

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Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism Autor Ranad Shaheen, Ghada M. H. Abdel‐Salam, Michael P. Guy, Rana Alomar, Mohamed S. Abdel‐Hamid, Hanan H. Afifi, Samira Ismail, Bayoumi A. Emam, Eric M. Phizicky, Fowzan S. Alkuraya

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Novel loss‐of‐function variants in <i>DIAPH1</i> associated with syndromic microcephaly, blindness, and early onset seizures Autor Almundher Al‐Maawali, Brenda J. Barry, Anna Rajab, Malak El‐Quessny, Ann Seman, Stephanie Newton Coury, A. James Barkovich, Edward Yang, Christopher A. Walsh, Ganeshwaran H. Mochida, Joan M. Stoler

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A Missense Mutation in <i>PPP1R15B</i> Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly Autor Baroj Abdulkarim, Marc Nicolino, Mariana Igoillo‐Esteve, Mathilde Daures, Sophie Romero, Anne Philippi, Valérie Senée, Miguel Lopes, Daniel A. Cunha, Heather P. Harding, Céline Derbois, Nathalie Bendelac, Andrew T. Hattersley, Décio L. Eizirik, David Ron, Miriam Cnop, Cécile Julier

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Meier-Gorlin syndrome Autor Sonja A. de Munnik, Elisabeth H. Hoefsloot, Jolt Roukema, Jeroen Schoots, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

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