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Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

• Authors : Stevens, Servi J. C.; van Essen, Anthonie J.; van Ravenswaaij, Conny M. A.

Subjects: ZNF148; ZBP-89; Whole exome sequencing

• Source: Stevens , S J C , van Essen , A J , van Ravenswaaij , C M A , Elias , A F , Haven , J A , Lelieveld , S H , Pfundt , R , Nillesen , W M , Yntema , H G , van Roozendaal , K , Stegmann , A P , Gilissen

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Erratum to: Parent-of-origin-specific signatures of de novo mutations

• Authors : Goldmann, Jakob M.; Wong, Wendy S.W.; Pinelli, Michele

• Source: Goldmann , J M , Wong , W S W , Pinelli , M , Farrah , T , Bodian , D , Stittrich , A B , Glusman , G , Vissers , L E L M , Hoischen , A , Roach , J C , Vockley , J G , Veltman , J A , Solomon , B D ,

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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

• Authors : Blok, Lot Snijders; Hiatt, Susan M.; Bowling, Kevin M.

Subjects: SYNDROMIC INTELLECTUAL DISABILITY; AUTISM SPECTRUM DISORDER; MODULE ASSOCIATION

• Source: Blok , L S , Hiatt , S M , Bowling , K M , Prokop , J W , Engel , K L , Cochran , J N , Bebin , E M , Bijlsma , E K , Ruivenkamp , C A L , Terhal , P , Simon , M E H , Smith , R , Hurst , J A ,

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New insights into the generation and role of de novo mutations in health and disease

• Authors : Acuna-Hidalgo, Rocio; Veltman, Joris A.; Hoischen, Alexander

• Source: Acuna-Hidalgo , R , Veltman , J A & Hoischen , A 2016 , ' New insights into the generation and role of de novo

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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

• Authors : Lamers, Ideke J. C.; Reijnders, Margot R. F.; Venselaar, Hanka

Subjects: T-CELL LYMPHOMA; RECYCLING ENDOSOME; STRUCTURAL BASIS

• Source: Lamers , I J C , Reijnders , M R F , Venselaar , H , Kraus , A , Jansen , S , de Vries , B B A , Houge , G , Gradek , G A , Seo , J , Choi , M , Chae , J-H , van der

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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

• Authors : Kim, Jung-Hyun; Shinde, Deepali N.; Reijnders, Margot R. F.

• Source: Kim , J-H , Shinde , D N , Reijnders , M R F , Hauser , N S , Belmonte , R L , Wilson , G R , Bosch , D G M , Bubulya , P A , Shashi , V , Petrovski , S , Stone , J K , Park , E Y , Veltman , J ,

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Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

• Authors : Carvill, Gemma L.; Jansen, Sandra; Lacroix, Amy

Subjects: DE-NOVO MUTATIONS; PHENOTYPIC HETEROGENEITY; VARIANTS

• Source: Carvill , G L , Jansen , S , Lacroix , A , Zemel , M , Mehaffey , M , De Vries , P , Brunner , H G , Scheffer , I E , De Vries , B B A ,

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PURA-Related Developmental and Epileptic Encephalopathy

• Authors : Johannesen, K.M.; Gardella, E.; Gjerulfsen, C.E.

Subjects: POSTNATAL BRAIN-DEVELOPMENT; DE-NOVO MUTATIONS; CLASSIFICATION

• Source: Johannesen , K M , Gardella , E , Gjerulfsen , C E , Bayat , A , Rouhl , R P W , Reijnders , M , Whalen , S , Keren , B , Buratti , J , Courtin , T , Wierenga , K J , Isidor , B , Piton , A , Faivre ,

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Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing

• Authors : Corominas, Jordi; Klein, Marieke; Zayats, Tetyana

Subjects: DEFICIT HYPERACTIVITY DISORDER; DE-NOVO MUTATIONS; MOLECULAR-GENETICS

• Source: Corominas , J , Klein , M , Zayats , T , Rivero , O , Ziegler , G C , Pauper , M , Neveling , K , Poelmans , G , Jansch , C , Svirin , E , Geissler , J , Weber , H , Reif , A , Vasquez , A A ,

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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

• Authors : Guo, Hui; Bettella, Elisa; Marcogliese, Paul C.

Subjects: DE-NOVO MUTATIONS; SYNAPTIC DEVELOPMENT; GENES

• Source: Guo , H , Bettella , E , Marcogliese , P C , Zhao , R , Andrews , J C , Nowakowski , T J , Gillentine , M A , Hoekzema , K , Wang , T , Wu , H , Jangam , S , Liu , C , Ni , H , Willemsen , M H , van

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