Saskia Koene

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 14

Top Venues

American journal of medical genetics. Part A

Journal of medical genetics

Journal of inherited metabolic disease

European journal of pediatrics

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

Publications

Saskia Koene, Fabiënne Gwendolin Ropers, Jannelien Wieland, Tamara Rybak, Floor Wildschut, Dagmar Berghuis, Angela T Morgan, Maria Pilar Trelles, Jeroen Ronald Scheepe, Regina Bökenkamp, Cacha M P C D Peeters-Scholte, Ruth Braden, Gijs W E Santen
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals. Journal of medical genetics 61 (4) (2024)
Saskia Koene, Fabiënne Gwendolin Ropers, Jannelien Wieland, Tamara Rybak, Floor Wildschut, Dagmar Berghuis, Angela T Morgan, Maria Pilar Trelles, Jeroen Ronald Scheepe, Regina Bökenkamp, Cacha M P C D Peeters-Scholte, Ruth Braden, Gijs W E Santen
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals. Journal of medical genetics 61 (4) (2024)
Saskia Koene, Fabiënne Gwendolin Ropers, Jannelien Wieland, Tamara Rybak, Floor Wildschut, Dagmar Berghuis, Angela T Morgan, Maria Pilar Trelles, Jeroen Ronald Scheepe, Regina Bökenkamp, Cacha M P C D Peeters-Scholte, Ruth Braden, Gijs W E Santen
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals. Journal of medical genetics (2023)
Michelle van Slobbe, Arie van Haeringen, Lisenka E L M Vissers, Emilia K Bijlsma, Julie W Rutten, Manon Suerink, Esther A R Nibbeling, Claudia A L Ruivenkamp, Saskia Koene
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context. European journal of pediatrics (2023)
Marieke Lindenschot, Saskia Koene, Melissa T Nott, Maria W G Nijhuis-van der Sanden, Imelda J M de Groot, Esther M J Steultjens, Maud J L Graff
The reliability and validity of the perceive, recall, plan and perform assessment in children with a mitochondrial disorder. Disability and rehabilitation (2022)
Saskia Koene, Floortje Klerx-Melis, Arno Anne Willem Roest, Maarten Cornelis Kleijwegt, Marianne Bootsma, Monique C Haak, Meike Heleen van Haeringen, Claudia Antoinette Laetitia Ruivenkamp, Esther Anne Rieky Nibbeling, Arie van Haeringen
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family. American journal of medical genetics. Part A 188 (12) (2022)
Saskia Koene, Jeroen Knijnenburg, Mariette J V Hoffer, Fleur Zwanenburg, Monique C Haak, Heiko Locher, Edward S A van Beelen, Gijs W E Santen, Liselotte J C Rotteveel
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1. American journal of medical genetics. Part A 188 (5) (2022)
Marieke Lindenschot, Imelda J M de Groot, Maria W G Nijhuis-van der Sanden, Esther M J Steultjens, Maud J L Graff, Saskia Koene
Perceive, Recall, Plan and Perform (PRPP)-Assessment Based on Parent-Provided Videos of Children with Mitochondrial Disorder: Action Design Research on Implementation Challenges. Physical & occupational therapy in pediatrics 43 (1) (2022)
Kevin E Glinton, Anna C E Hurst, Kevin M Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B Beck, Carole Brewer, Aditi Shah Parikh, Deepali N Shinde, Alan Donaldson, Ariel Brautbar, Saskia Koene, Arie van Haeringen, Amélie Piton, Yline Capri, Margherita Furlan, Elena Gardella, Rikke Steensbjerre Møller, Irma van de Beek, Linda Zuurbier, Phillis Lakeman, Allan Bayat, Julian A Martinez, Rebecca Signer, Pernille M Torring, Morten Buch Engelund, Karen W Gripp, Louise Amlie-Wolf, Lindsay B Henderson, Alina T Midro, Eugeniusz Tarasów, Beata Stasiewicz-Jarocka, Diana Moskal-Jasinska, Paul Vos, Felix Boschann, Corinna Stoltenburg, Oliver Puk, Inger-Lise Mero, Kristine Lossius, Cyril Mignot, Boris Keren, Johanna C Acosta Guio, Ignacio Briceño, Alberto Gomez, Yaping Yang, Przemyslaw Szafranski
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. American journal of medical genetics. Part A 185 (5) (2021)
Margaret A Ferris, Amanda M Smith, Sharon E Heath, Eric J Duncavage, Matthew J Oberley, David R Freyer, Robert Wynn, Sofia Douzgou Houge, John M Maris, Anne F Reilly, Melinda Wu, Florence Choo, Roel B Fiets, Saskia Koene, David H Spencer, Christopher A Miller, Marwan S Shinawi, Timothy J Ley
DNMT3A Overgrowth Syndrome is associated with the development of hematopoietic malignancies in children and young adults. Blood (2021)
Saskia Koene, Cacha M P C D Peeters-Scholte, Jeroen Knijnenburg, Linda S de Vries, Phebe N Adama van Scheltema, Marije E C Meuwissen, Sylke J Steggerda, Gijs W E Santen
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication. American journal of medical genetics. Part A 185 (2) (2020)
Saskia Koene, Niki M Stolwijk, Rob Ramakers, Maaike de Vries, Lonneke de Boer, Mirian C H Janssen, Imelda de Groot, Jan Smeitink
Quantification of gait in children with mitochondrial disease. Journal of inherited metabolic disease 41 (4) (2018)
Saskia Koene, Lara van Bon, Enrico Bertini, Cecilia Jimenez-Moreno, Lianne van der Giessen, Imelda de Groot, Robert McFarland, Sumit Parikh, Shamima Rahman, Michelle Wood, Jiri Zeman, Anjo Janssen, Jan Smeitink
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop. Journal of inherited metabolic disease 41 (6) (2018)
Rob Ramakers, Saskia Koene, Jan T Groothuis, Paul de Laat, Mirian Ch Janssen, Jan Smeitink
Quantification of gait in mitochondrial m.3243A > G patients: a validation study. Orphanet journal of rare diseases 12 (1) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Saskia Koene