Publications by authors named "Eric Smeets"

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Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes.
Friederike Ehrhart, Susan L Coort, Lars Eijssen, Elisa Cirillo, Eric E Smeets

World J Biol Psychiatry· December 2020

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Rett syndrome and developmental regression.
Eric E Smeets, Gillian S Townend, Leopold M G Curfs

Neurosci Biobehav Rev· September 2019

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De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Sandra Jansen, Ilse M van der Werf, A Micheil Innes, Alexandra Afenjar, Pankaj B Agrawal, Eric J Smeets

Eur J Hum Genet· May 2019

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Challenges in evaluating the oculomotor function in individuals with Rett syndrome using electronystagmography.
Laurèl H M de Breet, Gillian S Townend, Leopold M G Curfs, Herman Kingma, Eric E J Smeets

Eur J Paediatr Neurol· March 2019

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Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Francesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, Petra van Mierlo, Hilde M H Braakman, Eric E Smeets

Epilepsia· January 2019

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Oculomotor Function in Individuals With Rett Syndrome.
Gillian S Townend, Raymond van de Berg, Laurèl H M de Breet, Monique Hiemstra, Laura Wagter, Eric Smeets

Pediatr Neurol· November 2018

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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Eric Smeets

J Med Genet· February 2018

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Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study.
Hanneke E Borst, Gillian S Townend, Mirjam van Eck, Eric Smeets, Mariëlle van den Berg

J Dev Phys Disabil· January 2018

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Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes.
Friederike Ehrhart, Susan L M Coort, Elisa Cirillo, Eric Smeets, Chris T Evelo

Orphanet J Rare Dis· November 2016

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Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
Nicky Halbach, Eric E Smeets, Peter Julu, Ingegerd Witt-Engerström, Giorgio Pini

Am J Med Genet A· September 2016

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New insights in Rett syndrome using pathway analysis for transcriptomics data.
Friederike Ehrhart, Susan L M Coort, Elisa Cirillo, Eric Smeets, Chris T Evelo

Wien Med Wochenschr· September 2016

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De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Dorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, Emilia K Bijlsma, Raphael Bernier, Eric Smeets

Eur J Hum Genet· August 2016

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Rett Syndrome as a Rare Disease: A European Perspective.
Gillian S Townend, Henk J van Kranen, Rob van der Stel, Mariёlle van den Berg, Eric Smeets

Public Health Genomics· October 2015

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Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands.
Gillian S Townend, Peter B Marschik, Eric Smeets, Raymond van de Berg, Mariёlle van den Berg

J Dev Phys Disabil· October 2015

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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje W M van Bon, Nicole de Leeuw, Eric E J Smeets

Eur J Hum Genet· September 2015

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Further delineation of the KBG syndrome caused by ANKRD11 aberrations.
Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje W M van Bon, Nicole de Leeuw, Eric E J Smeets

Eur J Hum Genet· September 2015

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Eric Smeets

Am J Hum Genet· August 2015

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A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
Servi J C Stevens, Eveline W Blom, Ingrid T J Siegelaer, Eric E J G L Smeets

Eur J Hum Genet· April 2015

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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Alma Kuechler, Marjolein H Willemsen, Beate Albrecht, Carlos A Bacino, Dennis W Bartholomew, Eric E J Smeets

Hum Genet· January 2015

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[Rett syndrome].
Paul R van Urk, Mariëll P van den Berg, Barend J van Royen, Eric E J Smeets, Leopold M G Curfs

Ned Tijdschr Geneeskd· September 2014

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Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome.
Nicky S J Halbach, Eric E J Smeets, Jörgen Bierau, Irene M L W Keularts, Guy Plasqui

JIMD Rep· February 2013

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Incontinence in Individuals with Rett Syndrome: A Comparative Study.
Sanne Giesbers, Robert Didden, Maartje Radstaake, Hubert Korzilius, Alexander von Gontard, Eric Smeets

J Dev Phys Disabil· June 2012

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Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.
Nicky S J Halbach, Eric E J Smeets, Noortje van den Braak, Kees E P van Roozendaal, Rien M J Blok

Am J Med Genet A· February 2012

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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.
Servi J C Stevens, Conny M A van Ravenswaaij-Arts, Jannie W H Janssen, Jolien S Klein Wassink-Ruiter, Anthonie J van Essen, Eric E J G L Smeets

Am J Med Genet A· November 2011

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Rett syndrome: a study of the face.
Judith E Allanson, Raoul C M Hennekam, Ute Moog, Eric E Smeets

Am J Med Genet A· July 2011

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