Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity by Nicole Corsten-Janssen, Conny M.A. van Ravenswaaij-Arts, Livia Kapusta

Get full text

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis by Jonas Gustafson, Maria Bjork, Conny M. A. van Ravenswaaij-Arts, Michael L. Cunningham

Get full text

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1 by Aafke Engwerda, Wilhelmina S. Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts

Get full text

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review by Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts, Aafke Engwerda

Get full text

Understanding Behavior in Phelan-McDermid Syndrome by Annemiek M. Landlust, Annemiek M. Landlust, Linda Visser, Linda Visser, Boudien C. T. Flapper, Boudien C. T. Flapper, Boudien C. T. Flapper, Selma A. J. Ruiter, Renée J. Zwanenburg, Conny M. A. van Ravenswaaij-Arts, Conny M. A. van Ravenswaaij-Arts, Ingrid D. C. van Balkom, Ingrid D. C. van Balkom

Get full text

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability by Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F. Simoes de Souza, Morris A. Swertz, Mirjam Plantinga, Wilhelmina S. Kerstjens-Frederikse, Adelita V. Ranchor, Conny M. A. van Ravenswaaij-Arts

Get full text

Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study. by Monica T Y Wong, Annechien J A Lambeck, Mirjam van der Burg, Sacha la Bastide-van Gemert, Lianne A Hogendorf, Conny M A van Ravenswaaij-Arts, Elisabeth H Schölvinck

Get full text

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation by Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij‐Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser, Carolina Sepulveda, Andres M Lozano, Grace Yoon, Teresa Santiago‐Sim, Cedric S Asensio, Guy A Caldwell, Kim A Caldwell, David Chitayat, Judith Klumperman

Get full text

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis by Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbloed, Conny M. A. van Ravenswaaij-Arts, Richard Sinke, Birgit Sikkema-Raddatz, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Lude Franke

Get full text