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Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation.
Published in:
EMBO Molecular Medicine, 2021, v. 13, n. 5, p. 1, doi. 10.15252/emmm.202013258
By:
- van der Welle, Reini E N;
- Jobling, Rebekah;
- Burns, Christian;
- Sanza, Paolo;
- van der Beek, Jan A;
- Fasano, Alfonso;
- Chen, Lan;
- Zwartkruis, Fried J;
- Zwakenberg, Susan;
- Griffin, Edward F;
- ten Brink, Corlinda;
- Veenendaal, Tineke;
- Liv, Nalan;
- van Ravenswaaij‐Arts, Conny M A;
- Lemmink, Henny H;
- Pfundt, Rolph;
- Blaser, Susan;
- Sepulveda, Carolina;
- Lozano, Andres M;
- Yoon, Grace
Publication type:
Article
A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs.
Published in:
2017
By:
- Van den Heuvel, Edwin R.;
- Zwanenburg, Renée J.;
- Van Ravenswaaij-Arts, Conny M. A.;
- Van Ravenswaaij-Arts, Conny Ma
Publication type:
journal article
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Published in:
2019
By:
- Strehlow, Vincent;
- Heyne, Henrike O;
- Vlaskamp, Danique R M;
- Marwick, Katie F M;
- Rudolf, Gabrielle;
- Bellescize, Julitta de;
- Biskup, Saskia;
- Brilstra, Eva H;
- Brouwer, Oebele F;
- Callenbach, Petra M C;
- Hentschel, Julia;
- Hirsch, Edouard;
- Kind, Peter C;
- Mignot, Cyril;
- Platzer, Konrad;
- Rump, Patrick;
- Skehel, Paul A;
- Wyllie, David J A;
- Hardingham, Giles E;
- Ravenswaaij-Arts, Conny M A van
Publication type:
journal article
Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries.
Published in:
2021
By:
- van Heerwaarde, Alise A.;
- Klomberg, Renz C. W.;
- van Ravenswaaij-Arts, Conny M. A.;
- van Amste, Hans Kristian Ploos;
- Toekoen, Aartie;
- Jessurun, Fariza;
- Garg, Abhimanyu;
- van der Kaay, Daniëlle C. M.;
- Ploos van Amstel, Hans Kristian
Publication type:
journal article
The influence of physiological parameters on long term heart rate variability in healthy preterm infants.
Published in:
Journal of Perinatal Medicine, 1990, v. 18, n. 2, p. 131, doi. 10.1515/jpme.1990.18.2.131
By:
- van Ravenswaaij-Arts, Conny M. A.;
- Hopman, Jeroen C. W.;
- Kollée, Louis A. A.;
- Stoelinga, Gerard B. A.
Publication type:
Article
Understanding Behavior in Phelan-McDermid Syndrome.
Published in:
Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.836807
By:
- Landlust, Annemiek M.;
- Visser, Linda;
- Flapper, Boudien C. T.;
- Ruiter, Selma A. J.;
- Zwanenburg, Renée J.;
- van Ravenswaaij-Arts, Conny M. A.;
- van Balkom, Ingrid D. C.
Publication type:
Article
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.
Published in:
2022
By:
- Gustafson, Jonas;
- Bjork, Maria;
- van Ravenswaaij-Arts, Conny M. A.;
- Cunningham, Michael L.
Publication type:
Case Study
Guidelines in CHARGE syndrome and the missing link: Cranial imaging.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 450, doi. 10.1002/ajmg.c.31593
By:
- de Geus, Christa M.;
- Free, Rolien H.;
- Verbist, Berit M.;
- Sival, Deborah A.;
- Blake, Kim D.;
- Meiners, Linda C.;
- van Ravenswaaij‐Arts, Conny M. A.
Publication type:
Article
Heart rate variability.
Published in:
1993
By:
- van Ravenswaaij-Arts, Conny M. A.;
- Kollee, Louis A. A.;
- Hopman, Jeroen C. W.;
- Stoelinga, Gerard B. A.;
- van Geijn, Herman P.;
- van Ravenswaaij-Arts, C M;
- Kollée, L A;
- Hopman, J C;
- Stoelinga, G B;
- van Geijn, H P
Publication type:
journal article
Duplication 2p25 in a child with clinical features of CHARGE syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1148, doi. 10.1002/ajmg.a.37592
By:
- Sperry, Ethan D.;
- Schuette, Jane L.;
- van Ravenswaaij‐Arts, Conny M. A.;
- Green, Glenn E.;
- Martin, Donna M.
Publication type:
Article
Central 22q11.2 deletions.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2707, doi. 10.1002/ajmg.a.36711
By:
- Rump, Patrick;
- de Leeuw, Nicole;
- van Essen, Anthonie J.;
- Verschuuren‐Bemelmans, Corien C.;
- Veenstra‐Knol, Hermine E.;
- Swinkels, Mariëlle E.M.;
- Oostdijk, Wilma;
- Ruivenkamp, Claudia;
- Reardon, Willie;
- de Munnik, Sonja;
- Ruiter, Mariken;
- Frumkin, Ayala;
- Lev, Dorit;
- Evers, Christina;
- Sikkema‐Raddatz, Birgit;
- Dijkhuizen, Trijnie;
- van Ravenswaaij‐Arts, Conny M.
Publication type:
Article
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Published in:
Nature Genetics, 2004, v. 36, n. 9, p. 955, doi. 10.1038/ng1407
By:
- Vissers, Lisenka E. L. M.;
- van Ravenswaaij, Conny M. A.;
- Admiraal, Ronald;
- Hurst, Jane A.;
- de Vries, Bert B. A.;
- Janssen, Irene M.;
- van der Vliet, Walter A.;
- Huys, Erik H. L. P. G.;
- de Jong, Pieter J.;
- Hamel, Ben C. J.;
- Schoenmakers, Eric F. P. M.;
- Brunner, Han G.;
- Veltman, Joris A.;
- van Kessel, Ad Geurts
Publication type:
Article
Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach.
Published in:
Journal of Multidisciplinary Healthcare, 2019, v. 12, p. 607, doi. 10.2147/JMDH.S175713
By:
- Dijk, Dieuwerke R;
- Bocca, Gianni;
- Ravenswaaij-Arts, Conny M van
Publication type:
Article
Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.
Published in:
PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0142350
By:
- Wong, Monica T. Y.;
- Lambeck, Annechien J. A.;
- van der Burg, Mirjam;
- la Bastide-van Gemert, Sacha;
- Hogendorf, Lianne A.;
- van Ravenswaaij-Arts, Conny M. A.;
- Schölvinck, Elisabeth H.
Publication type:
Article
Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics.
Published in:
Journal of Developmental & Physical Disabilities, 2009, v. 21, n. 4, p. 301, doi. 10.1007/s10882-009-9143-y
By:
- Wulffaert, Josette;
- Scholte, Evert M.;
- Dijkxhoorn, Yvette M.;
- Bergman, Jorieke E. H.;
- van Ravenswaaij-Arts, Conny M. A.;
- van Berckelaer-Onnes, Ina A.
Publication type:
Article
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 161, doi. 10.1038/ejhg.2011.174
By:
- Hanemaaijer, Nicolien M;
- Sikkema-Raddatz, Birgit;
- van der Vries, Gerben;
- Dijkhuizen, Trijnie;
- Hordijk, Roel;
- van Essen, Anthonie J;
- Veenstra-Knol, Hermine E;
- Kerstjens-Frederikse, Wilhelmina S;
- Herkert, Johanna C;
- Gerkes, Erica H;
- Leegte, Lamberta K;
- Kok, Klaas;
- Sinke, Richard J;
- van Ravenswaaij-Arts, Conny M A
Publication type:
Article
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 5, p. 539, doi. 10.1038/ejhg.2009.211
By:
- Wei Chen;
- Ullmann, Reinhard;
- Langnick, Claudia;
- Menzel, Corinna;
- Wotschofsky, Zofia;
- Hu, Hao;
- Döring, Andreas;
- Yuhui Hu;
- Hui Kang;
- Tzschach, Andreas;
- Hoeltzenbein, Maria;
- Neitzel, Heidemarie;
- Markus, Susanne;
- Wiedersberg, Eberhard;
- Kistner, Gerd;
- van Ravenswaaij-Arts, Conny M. A.;
- Kleefstra, Tjitske;
- Kalscheuer, Vera M;
- Ropers, Hans-Hilger
Publication type:
Article
Study of smell and reproductive organs in a mouse model for CHARGE syndrome.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 2, p. 171, doi. 10.1038/ejhg.2009.158
By:
- Bergman, Jorieke E. H.;
- Bosman, Erika A.;
- van Ravenswaaij-Arts, Conny M. A.;
- Steel, Karen P.
Publication type:
Article
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1432, doi. 10.1038/ejhg.2009.72
By:
- van Silfhout, Anneke T.;
- van den Akker, Peter C.;
- Dijkhuizen, Trijnie;
- Verheij, Joke B. G. M.;
- Olderode-Berends, Maran J. W.;
- Kok, Klaas;
- Sikkema-Raddatz, Birgit;
- van Ravenswaaij-Arts, Conny M. A.
Publication type:
Article
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1019, doi. 10.1038/sj.ejhg.5201456
By:
- Koolen, David A.;
- Reardon, William;
- Rosser, Elisabeth M.;
- Lacombe, Didier;
- Hurst, Jane A.;
- Law, Caroline J.;
- Bongers, Ernie M. H. F.;
- van Ravenswaaij-Arts, Conny M.;
- Leisink, Martijn A. R;
- van Kessel, Ad Geurts;
- Veltman, Joris A.;
- de Vries, Bert B. A
Publication type:
Article
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02657-x
By:
- Engwerda, Aafke;
- Frentz, Barbara;
- Rraku, Eleana;
- de Souza, Nadia F. Simoes;
- Swertz, Morris A.;
- Plantinga, Mirjam;
- Kerstjens-Frederikse, Wilhelmina S.;
- Ranchor, Adelita V.;
- van Ravenswaaij-Arts, Conny M. A.
Publication type:
Article
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02658-w
By:
- Engwerda, Aafke;
- Kerstjens-Frederikse, Wilhelmina S.;
- Corsten-Janssen, Nicole;
- Dijkhuizen, Trijnie;
- van Ravenswaaij-Arts, Conny M. A.
Publication type:
Article
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02670-0
By:
- Rraku, Eleana;
- Kerstjens-Frederikse, Wilhelmina S.;
- Swertz, Morris A.;
- Dijkhuizen, Trijnie;
- van Ravenswaaij-Arts, Conny M. A.;
- Engwerda, Aafke
Publication type:
Article
Copy number variation in a hospital-based cohort of children with epilepsy.
Published in:
Epilepsia Open, 2017, v. 2, n. 2, p. 244, doi. 10.1002/epi4.12057
By:
- Vlaskamp, Danique R. M.;
- Callenbach, Petra M. C.;
- Rump, Patrick;
- Giannini, Lucia A. A.;
- Dijkhuizen, Trijnie;
- Brouwer, Oebele F.;
- van Ravenswaaij-Arts, Conny M. A.
Publication type:
Article
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Published in:
BMC Medical Genomics, 2016, p. 1, doi. 10.1186/s12920-016-0167-8
By:
- Rump, Patrick;
- Jazayeri, Omid;
- van Dijk-Bos, Krista K.;
- Johansson, Lennart F.;
- van Essen, Anthonie J.;
- Verheij, Johanna B. G. M.;
- Veenstra-Knol, Hermine E.;
- Redeker, Egbert J. W.;
- Mannens, Marcel M. A. M.;
- Swertz, Morris A.;
- Alizadeh, Behrooz Z.;
- van Ravenswaaij-Arts, Conny M. A.;
- Sinke, Richard J.;
- Sikkema-Raddatz, Birgit
Publication type:
Article
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Published in:
Clinical Genetics, 2021, v. 100, n. 4, p. 396, doi. 10.1111/cge.14017
By:
- Lévy, Jonathan;
- Schell, Bérénice;
- Nasser, Hala;
- Rachid, Myriam;
- Ruaud, Lyse;
- Couque, Nathalie;
- Callier, Patrick;
- Faivre, Laurence;
- Marle, Nathalie;
- Engwerda, Aafke;
- van Ravenswaaij‐Arts, Conny M. A.;
- Plutino, Morgane;
- Karmous‐Benailly, Houda;
- Benech, Caroline;
- Redon, Sylvia;
- Boute, Odile;
- Boudry Labis, Elise;
- Rama, Mélanie;
- Kuentz, Paul;
- Assoumani, Jessica
Publication type:
Article
Support for the Diagnosis of CHARGE Syndrome.
Published in:
2017
By:
- van Ravenswaaij-Arts, Conny M. A.;
- Blake, Kim;
- Martin, Donna M.;
- Keiko Hirose;
- Shinawi, Marwan
Publication type:
journal article
CHARGE syndrome and related disorders: a mechanistic link.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 24, p. 2215, doi. 10.1093/hmg/ddab183
By:
- Ufartes, Roser;
- Grün, Regina;
- Salinas, Gabriela;
- Sitte, Maren;
- Kahl, Fritz;
- Wong, Monica T Y;
- Ravenswaaij-Arts, Conny M A van;
- Pauli, Silke
Publication type:
Article
CHARGE syndrome and related disorders: a mechanistic link.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 23, p. 2215, doi. 10.1093/hmg/ddab183
By:
- Ufartes, Roser;
- Grün, Regina;
- Salinas, Gabriela;
- Sitte, Maren;
- Kahl, Fritz;
- Wong, Monica T Y;
- Ravenswaaij-Arts, Conny M A van;
- Pauli, Silke
Publication type:
Article
Sema3a plays a role in the pathogenesis of CHARGE syndrome.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 8, p. 1343, doi. 10.1093/hmg/ddy045
By:
- Ufartes, Roser;
- Schwenty-Lara, Janina;
- Freese, Luisa;
- Neuhofer, Christiane;
- Möller, Janika;
- Wehner, Peter;
- van Ravenswaaij-Arts, Conny M. A.;
- Wong, Monica T. Y.;
- Schanze, Ina;
- Tzschach, Andreas;
- Bartsch, Oliver;
- Borchers, Annette;
- Pauli, Silke
Publication type:
Article
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1149, doi. 10.1002/humu.22086
By:
- Janssen, Nicole;
- Bergman, Jorieke E. H.;
- Swertz, Morris A.;
- Tranebjaerg, Lisbeth;
- Lodahl, Marianne;
- Schoots, Jeroen;
- Hofstra, Robert M. W.;
- van Ravenswaaij-Arts, Conny M. A.;
- Hoefsloot, Lies H.
Publication type:
Article
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
Published in:
Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0386-9
By:
- Stevens, Servi J. C.;
- van Essen, Anthonie J.;
- van Ravenswaaij, Conny M. A.;
- Elias, Abdallah F.;
- Haven, Jaclyn A.;
- Lelieveld, Stefan H.;
- Pfundt, Rolph;
- Nillesen, Willy M.;
- Yntema, Helger G.;
- van Roozendaal, Kees;
- Stegmann, Alexander P.;
- Gilissen, Christian;
- Brunner, Han G.
Publication type:
Article

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