Conny M A van Ravenswaaij-Arts (C M A van Ravenswaaij-Arts, Conny van Ravenswaaij-Arts)

Publication Activity (10 Years)

Years Active: 2015-2023
Publications (10 Years): 14

Top Topics

Genome Wide Analysis

Dna Methylation

Top Venues

Orphanet journal of rare diseases

European journal of human genetics : EJHG

AJNR. American journal of neuroradiology

This page only lists publications with an associated author ORCID identifier.

Publications

Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1. Orphanet journal of rare diseases 18 (1) (2023)
Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1. Orphanet journal of rare diseases 18 (1) (2023)
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
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability. Orphanet journal of rare diseases 18 (1) (2023)
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
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability. Orphanet journal of rare diseases 18 (1) (2023)
Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1. Orphanet journal of rare diseases 18 (1) (2023)
Eleana Rraku, Wilhelmina S Kerstjens-Frederikse, Morris A Swertz, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts, Aafke Engwerda
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review. Orphanet journal of rare diseases 18 (1) (2023)
Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1. Orphanet journal of rare diseases 18 (1) (2023)
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
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability. Orphanet journal of rare diseases 18 (1) (2023)
Aafke Engwerda, Kristin M Abbott, Marrit M Hitzert, Conny M A van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse
The role of TBX18 in congenital heart defects in humans not confirmed. European journal of human genetics : EJHG (2022)
Aafke Engwerda, Erika K S M Leenders, Barbara Frentz, Paulien A Terhal, Katharina Löhner, Bert B A de Vries, Trijnie Dijkhuizen, Yvonne J Vos, Tuula Rinne, Maarten P van den Berg, Marc T R Roofthooft, Patrick Deelen, Conny M A van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility. European journal of human genetics : EJHG 29 (11) (2021)
Christa M de Geus, Jorieke Elisabertha Hermina Bergman, Conny M A van Ravenswaaij-Arts, L C Meiners
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study. AJNR. American journal of neuroradiology 39 (10) (2018)
Aafke Engwerda, Barbara Frentz, A Lya den Ouden, Boudien C T Flapper, Morris A Swertz, Erica H Gerkes, Mirjam Plantinga, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. European journal of human genetics : EJHG 26 (10) (2018)
Danique R M Vlaskamp, Marlies M B Habing, Patrick Rump, Lucia A A Giannini, Trijnie Dijkhuizen, Oebele F Brouwer, Conny M A van Ravenswaaij-Arts
Copy number variation in a hospital-based cohort of children with epilepsy. Epilepsia open 2 (2) (2017)
Christa M de Geus, Rolien H Free, Berit M Verbist, Deborah A Sival, Kim D Blake, Linda C Meiners, Conny M A van Ravenswaaij-Arts
Guidelines in CHARGE syndrome and the missing link: Cranial imaging. American journal of medical genetics. Part C, Seminars in medical genetics 175 (4) (2017)
David E Barton, Mireille Claustres, Viktor Kozich, Els Dequeker, Brian Fowler, Jayne Y Hehir-Kwa, Konstantin Miller, Cor Oosterwijk, Borut Peterlin, Conny M A van Ravenswaaij-Arts, Uwe Zimmermann, Orsetta Zuffardi, Rosalind J Hastings
Reply to Sajantila and Budowle. European journal of human genetics : EJHG 24 (3) (2015)