Publications by authors named "Inge B Mathijssen"

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Maternal-Foetal HLA-DQB1 Incompatibility Is Associated With Pregnancy-Induced Hypertensive Disorders in a Genetically Isolated Population.
Liseanne J Van't Hof, Marie-Louise P van der Hoorn, Selena Migdis, Geert W Haasnoot, Emma T M Peereboom, Inge B Mathijssen

HLA· August 2025

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Counseling couples at risk of having a child with homozygous familial hypercholesterolemia - Clinical experience and recommendations.
Tycho R Tromp, M Doortje Reijman, Albert Wiegman, G Kees Hovingh, Joep C Defesche, Inge B Mathijssen

J Clin Lipidol· March 2023

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De novo variants in the PABP domain of PABPC1 lead to developmental delay.
Meret Wegler, Xiangbin Jia, Marielle Alders, Arjan Bouman, Jia Chen, Inge B Mathijssen

Genet Med· August 2022

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[A female with excessive wrinkling of the hands].
Jonathan W J Melger, Patricia J C Knijnenburg, Inge B Mathijssen

Ned Tijdschr Geneeskd· May 2022

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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Eva S van Walree, Gregor Dombrowsky, Iris E Jansen, Maša Umićević Mirkov, Rob Zwart, Inge B Mathijssen

Genet Med· April 2022

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Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
Antoinette F van Ouwerkerk, Fernanda M Bosada, Karel van Duijvenboden, Arjan C Houweling, Koen T Scholman, Inge B Mathijssen

Circulation· February 2022

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Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer.
Ivy van Dijke, Phillis Lakeman, Naoual Sabiri, Hanna Rusticus, Cecile P E Ottenheim, Inge B Mathijssen

Eur J Hum Genet· August 2021

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How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples.
Ivy van Dijke, Phillis Lakeman, Inge B Mathijssen, Mariëtte Goddijn, Martina C Cornel

Eur J Hum Genet· January 2021

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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Eva S van Walree, Gregor Dombrowsky, Iris E Jansen, Maša Umićević Mirkov, Rob Zwart, Inge B Mathijssen

Genet Med· January 2021

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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
Julie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, Majid Mojarrad, Dorien Lugtenberg

HGG Adv· January 2021

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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
Tessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, Mariëlle Alders, Inge B Mathijssen

Eur J Hum Genet· December 2018

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Further delineation of Malan syndrome.
Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A Mulder, Jair Tenorio, Inge B Mathijssen

Hum Mutat· September 2018

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Homozygous DMRT2 variant associates with severe rib malformations in a newborn.
Arjan Bouman, Quinten Waisfisz, Jop Admiraal, Moniek van de Loo, Rick R van Rijn, Inge B Mathijssen

Am J Med Genet A· May 2018

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Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population.
Inge B Mathijssen, Kim C A Holtkamp, Cecile P E Ottenheim, Janneke M C van Eeten-Nijman, Phillis Lakeman

Eur J Hum Genet· February 2018

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With expanded carrier screening, founder populations run the risk of being overlooked.
Inge B Mathijssen, Merel C van Maarle, Iris I M Kleiss, Egbert J W Redeker, Leo P Ten Kate

J Community Genet· October 2017

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Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.
Kim C A Holtkamp, Inge B Mathijssen, Phillis Lakeman, Merel C van Maarle, Wybo J Dondorp

Eur J Public Health· April 2017

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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Michael D Fountain, Emmelien Aten, Megan T Cho, Jane Juusola, Magdalena A Walkiewicz, Inge B Mathijssen

Genet Med· January 2017

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LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.
Inge B Mathijssen, Ralph J Florijn, L Ingeborgh van den Born, Renate C Zekveld-Vroon, Jacoline B Ten Brink

Retina· January 2017

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Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.
Jessica M E van den Oever, Emilia K Bijlsma, Ilse Feenstra, Nienke Muntjewerff, Inge B Mathijssen

Prenat Diagn· October 2015

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Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
M Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, Frank Baas, Johanna I de Vries

Eur J Hum Genet· September 2015

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Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Saskia M Maas, Adam C Shaw, Hennie Bikker, Hermann-Josef Lüdecke, Karin van der Tuin, Inge B Mathijssen

Eur J Med Genet· May 2015

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Targeted carrier screening for four recessive disorders: high detection rate within a founder population.
Inge B Mathijssen, Lidewij Henneman, Janneke M C van Eeten-Nijman, Phillis Lakeman, Cecile P E Ottenheim

Eur J Med Genet· March 2015

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Variants in CUL4B are associated with cerebral malformations.
Anneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, Stefan A Haas, Hao Hu, Inge B Mathijssen

Hum Mutat· January 2015

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Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
Ellen A Croonen, Willy M Nillesen, Kyra E Stuurman, Gretel Oudesluijs, Ingrid M B M van de Laar, Inge B Mathijssen

Eur J Hum Genet· September 2013

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Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism.
Karin Huijsdens-van Amsterdam, Daniela Qcm Barge-Schaapveld, Inge B Mathijssen, Mariëlle Alders, Eva Pajkrt

Mol Cytogenet· January 2012

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