Publications by authors named "Jan M Cobben"

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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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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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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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The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Marije E C Meuwissen, Dicky J J Halley, Liesbeth S Smit, Maarten H Lequin, Jan M Cobben

Genet Med· November 2015

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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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[A girl with Angelman syndrome].
Jan Maarten Cobben, Arjen van Hal, Nora van den Puttelaar-van Hal, Fleur S van Dijk

Ned Tijdschr Geneeskd· June 2015

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Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome.
Fleur S van Dijk, Helen Brittain, Ragna Boerma, Marie L Robert, Jan M Cobben

JAMA Dermatol· June 2015

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Pectus excavatum and carinatum.
Jan M Cobben, Roelof-Jan Oostra, Fleur S van Dijk

Eur J Med Genet· August 2014

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Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Maja Sukalo, Ariane Fiedler, Celina Guzmán, Stephanie Spranger, Marie-Claude Addor, Jan M Cobben

Hum Mutat· May 2014

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Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.
Marieke G A de Roo, Nico G G M Abeling, Charles B Majoie, Annet M Bosch, Johannes H T M Koelman, Jan M Cobben

Mol Genet Metab· March 2014

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A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3).
Charlotte W Ockeloen, Jan M Cobben, Carlo L M Marcelis, David A Koolen

Clin Dysmorphol· July 2013

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Morphologic abnormalities in 2-year-old children born after in vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic screening: follow-up of a randomized controlled trial.
Fenny Beukers, Maaike van der Heide, Karin J Middelburg, Jan Maarten Cobben, Sebastiaan Mastenbroek

Fertil Steril· February 2013

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Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders.
Nadia Abdelmalik, Mieke van Haelst, Grazia Mancini, Connie Schrander-Stumpel, Dominique Marcus-Soekarman, Jan Maarten Cobben

Am J Med Genet A· February 2013

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Dysmorphic features in 2-year-old IVF/ICSI offspring.
Jorien Seggers, Maaike L Haadsma, Arend F Bos, Maas Jan Heineman, Paul Keating, Jan Maarten Cobben

Early Hum Dev· October 2012

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Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.
Denise van der Linde, Ingrid M B H van de Laar, Aida M Bertoli-Avella, Rogier A Oldenburg, Jos A Bekkers, Jan M Cobben

J Am Coll Cardiol· July 2012

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