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Spectrum of neurodevelopmental disabilities in children with cerebellar malformations 由 Marie-Ève Bolduc, Adré J. du Plessis, Nancy Sullivan, Omar Khwaja, Xun Zhang, Katherine Barnes, Richard L. Robertson, Catherine Limperopoulos

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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study 由 Ghayda Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi‐Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean‐François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison L. Goetsch, Beth Martin, Evan A. Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini

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Genetic testing in patients with global developmental delay/intellectual disabilities. A review 由 Diana Miclea, Loredana Peca, Zina Cuzmici, Ioan Pop

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Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy 由 Leah R. Fleming, Monica E. Lemmon, Natalie Beck, Maria R. Johnson, Weiyi Mu, David R. Murdock, Joann Bodurtha, Julie Hoover‐Fong, Ronald D. Cohn, Thangamadhan Bosemani, Kristin Barañano, Ada Hamosh

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Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in<i>IER3IP1</i>: insights into the natural history of a rare disorder 由 Stavit A. Shalev, Yardena Tenenbaum‐Rakover, Yoseph Horovitz, Veronica Paz, Honggang Ye, David Carmody, Heather M. Highland, Eric Boerwinkle, Craig L. Hanis, Donna M. Muzny, Richard A. Gibbs, Graeme I. Bell, Louis H. Philipson, Siri Atma W. Greeley

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Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations 由 Lindsay M. Oberman, Luigi Boccuto, Lauren Cascio, Sara M. Sarasua, Walter E. Kaufmann

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Global and Regional Differences in Brain Anatomy of Young Children Born Small for Gestational Age 由 Henrica M. A. de Bie, Kim J. Oostrom, Maria Boersma, Dick J. Veltman, Frederik Barkhof, Henriëtte A. Delemarre‐van de Waal, Martijn P. van den Heuvel

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Long term health and neurodevelopment in children exposed to antiepileptic drugs before birth 由 John Dean

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De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies 由 Darrell L. Dinwiddie, Sarah Soden, Carol Saunders, Neil Miller, Emily Farrow, Laurie D. Smith, Stephen F. Kingsmore

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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay 由 Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani, Neda Zadeh, Mary Willis, Colleen Macmurdo, Melanie A. Manning, Andrea Kwan, Louanne Hudgins, Florian Barthélémy, M. Carrie Miceli, Fabiola Quintero‐Rivera, Sibel Kantarci, Samuel P. Strom, Joshua L. Deignan, Wayne W. Grody, Éric Vilain, Stanley F. Nelson

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De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing 由 Samuel P. Strom, Reymundo Lozano, Hane Lee, Naghmeh Dorrani, John Mann, Patricia O'Lague, Nicole Mans, Joshua L. Deignan, Éric Vilain, Stanley F. Nelson, Wayne W. Grody, Fabiola Quintero‐Rivera

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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity 由 Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan, Gwen M. Glew, Anne Hing, Stephanie E Wallace, Patricia I. Bader, Aline I. Hamati, Pamela J. Reitnauer, Rosemarie Smith, David W. Stockton, Hiltrud Muhle, Ingo Helbig, Evan E. Eichler, Blake C. Ballif, Jill A. Rosenfeld, Karen D. Tsuchiya

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12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech 由 Julien Thévenon, Patrick Callier, Joris Andrieux, Bruno Delobel, Albert David, Sylvie Sukno, Delphine Minot, Laure Mosca Anne, Nathalie Marle, Damien Sanlaville, Marlène Bonnet, Alice Masurel‐Paulet, Fabienne Levy, Lorraine Gaunt, Sandra A. Farrell, Cédric Le Caignec, Annick Toutain, Virginie Carmignac, Francine Mugneret, Jill Clayton‐Smith, Christel Thauvin‐Robinet, Laurence Faivre

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Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome 由 Thomas Fernandez, Thomas M. Morgan, Nicole R. Davis, Ami Klin, Ashley Morris, Anita Farhi, Richard P. Lifton, Matthew W. State

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De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females 由 Bernt Popp, Svein I. Støve, Sabine Endele, Line M. Myklebust, Juliane Hoyer, Heinrich Sticht, Silvia Azzarello‐Burri, Anita Rauch, Thomas Arnesen, André Reis

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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency 由 Christopher W. Carr, Daniel Moreno‐De‐Luca, Colette C. Parker, Holly H. Zimmerman, Nikki Ledbetter, Alastair J. Martin, William B. Dobyns, Omar Abdul‐Rahman

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Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i> 由 Beata Nowakowska, Ewa Obersztyn, Krystyna Szymańska, Monika Bekiesińska‐Figatowska, Zhilian Xia, Christian B. Ricks, Ewa Bocian, David W. Stockton, Krzysztof Szczałuba, Magdalena Nawara, Ankita Patel, Daryl A. Scott, Sau Wai Cheung, Timothy P. Bohan, Paweł Stankiewicz

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New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish 由 Deborah Morris‐Rosendahl, Reeval Segel, A.P. Born, Christoph Conrad, Bart Loeys, Susan Sklower Brooks, Laura S. M. Müller, Christine Zeschnigk, Christina Botti, Ron Rabinowitz, Gökhan Uyanık, Marc‐Antoine Crocq, Uwe Kraus, Ingrid Degen, Fran Faes

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An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21 由 Xianhua Piao, Lina Basel‐Vanagaite, Rachel Straussberg, P. Ellen Grant, Elizabeth Pugh, Kim Doheny, Betty Doan, Susan E. Hong, Yin Yao Shugart, Christopher A. Walsh

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A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment 由 Reymundo Lozano, Arianna Vino, Cristina Lozano, Simon E. Fisher, Pelagia Deriziotis

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