Publications by authors named "Jan Cobben"

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Novel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion.
David Zocche, Lucy Platts, Maha Younes, Andrew Flemming, Nitha Naqvi, Jan Cobben

Mol Syndromol· December 2025

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Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.
Michelle Hua, Mohamad-Reza Aghanoori, Melissa MacPherson, Yi Ren, Yifan Yang, Jan Cobben

medRxiv· June 2025

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CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.
Eszter Sara Arany, David Zocche, Jemima E Mellerio, Muriel Holder-Espinasse, Jan Cobben

Am J Med Genet A· April 2025

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Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
Michelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Holly Walton, Jan Cobben

Front Genet· June 2024

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CLOVES Syndrome.
Alpa Kanji, Jan Cobben, Bisola Laguda

JAMA Dermatol· June 2023

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An exemplary model of genetic counselling for highly specialised services.
Juliette Harris, Marion Bartlett, Duncan Baker, Cheryl Berlin, Jessica Bowen, Jan Cobben

J Community Genet· April 2023

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Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).
Izabela M Krzyzewska, Peter Lauffer, Adri N Mul, Liselot van der Laan, Andrew Y F Li Yim, Jan Maarten Cobben

Int J Mol Sci· April 2023

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SHORT syndrome with microcephaly and developmental delay.
Viraj Patel, Wei Cui, Jan M Cobben

Am J Med Genet A· March 2023

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The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Belén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, Juan D Ortigoza-Escobar, Alfons Macaya, Jan Cobben

Mov Disord· November 2022

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Gene-disease relationship evidence: A clinical perspective focusing on ultra-rare diseases.
Gijs W E Santen, Harry G Leitch, Jan Cobben

Hum Mutat· August 2022

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Sedaghatian spondylometaphyseal dysplasia in two siblings.
Niha Peshimam, Hani Farah, Richard Caswell, Sian Ellard, Wajanat Jan, Jan Cobben

Eur J Med Genet· August 2022

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Genotype-phenotype correlation at codon 1740 of SETD2.
Rachel Rabin, Alireza Radmanesh, Ian A Glass, William B Dobyns, Kimberly A Aldinger, Jan M Cobben

Am J Med Genet A· September 2020

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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Hui Guo, Elisa Bettella, Paul C Marcogliese, Rongjuan Zhao, Jonathan C Andrews, Jan Cobben

Nat Commun· October 2019

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Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.
Thomas R W Nixon, Philip Alexander, Allan Richards, Annie McNinch, Philip W P Bearcroft, Jan Cobben

Am J Med Genet A· August 2019

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DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes.
Jan Maarten Cobben, Izabela M Krzyzewska, Andrea Venema, Adri N Mul, Abeltje Polstra

Epigenomics· May 2019

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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, Jan Maarten Cobben

J Med Genet· February 2018

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Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.
Fleur S van Dijk, Grazia M S Mancini, Alessandra Maugeri, Jan M Cobben

Eur J Med Genet· October 2017

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Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
Francesca Mattioli, Elise Schaefer, Alex Magee, Paul Mark, Grazia M Mancini, Jan Maarten Cobben

Am J Hum Genet· January 2017

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Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.
Leonie A Menke, Marc Engelen, Mariel Alders, Vincent J J Odekerken, Frank Baas, Jan M Cobben

J Child Neurol· December 2016

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[An infant with an asymmetric mouth when crying or laughing].
Hanaâ Benjeddi, Olivier Weijer, Jan Maarten Cobben

Ned Tijdschr Geneeskd· April 2016

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A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension.
Bart G P Koot, Marielle Alders, Joanne Verheij, Ulrich Beuers, Jan M Cobben

J Hepatol· April 2016

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Trisomy 4 mosaicism: Delineation of the phenotype.
Arjan Bouman, Anne-Marie van der Kevie-Kersemaekers, Karin Huijsdens-van Amsterdam, Nordin Dahhan, Lia Knegt, Jan Maarten Cobben

Am J Med Genet A· April 2016

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Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.
Arjan Bouman, Lia Knegt, Stefan Gröschel, Claudia Erpelinck, Mathijs Sanders, Jan Maarten Cobben

Am J Med Genet A· February 2016

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Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.
Silvana van Koningsbruggen, Hennie Knoester, Roel Bakx, Olaf Mook, Lia Knegt, Jan Maarten Cobben

Am J Med Genet A· February 2016

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Etiology and pathogenesis of robin sequence in a large Dutch cohort.
Hanneke Basart, Emma C Paes, Saskia M Maas, Marie-Jose H van den Boogaard, Johanna M van Hagen, Jan Maarten Cobben

Am J Med Genet A· September 2015

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