Publications by authors named "Bert B de Vries"

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GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam Sl Graefe, Viktor Bily, Bert Ba de Vries

medRxiv· March 2025

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Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, Nicolas Matentzoglu, Michael Gargano, Bert Ba de Vries

medRxiv· February 2025

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Bert Ba de Vries

J Clin Invest· January 2024

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The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries

Epilepsia· June 2017

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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Petra de Vries, Bert B A de Vries

Am J Hum Genet· April 2017

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Bert B A De Vries

PLoS Genet· March 2017

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Bert B A de Vries

Nat Genet· January 2017

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The Human Phenotype Ontology in 2017.
Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Bert B A de Vries

Nucleic Acids Res· January 2017

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Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Patricia Fergelot, Martine Van Belzen, Julien Van Gils, Alexandra Afenjar, Christine M Armour, Bert B A de Vries

Am J Med Genet A· December 2016

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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, Jill A Rosenfeld, Marwan Shinawi, Bert B A de Vries

Genet Med· November 2016

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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
Stefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, Helger G Yntema, Erik-Jan Kamsteeg, Petra de Vries, Bert B A de Vries

Nat Neurosci· September 2016

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De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Dorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, Emilia K Bijlsma, Raphael Bernier, Petra F de Vries, Bert B A de Vries

Eur J Hum Genet· August 2016

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Duplications of SLC1A3: Associated with ADHD and autism.
Claudia J M van Amen-Hellebrekers, Sandra Jansen, Rolph Pfundt, Janneke H Schuurs-Hoeijmakers, David A Koolen, Bert B A de Vries

Eur J Med Genet· August 2016

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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
David A Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E Veenstra-Knol, Bert B A de Vries

Eur J Hum Genet· May 2016

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Novel genetic causes for cerebral visual impairment.
Daniëlle G M Bosch, F Nienke Boonstra, Nicole de Leeuw, Rolph Pfundt, Willy M Nillesen, Bert B A de Vries

Eur J Hum Genet· May 2016

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TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
Wei Ba, Yan Yan, Margot R F Reijnders, Janneke H M Schuurs-Hoeijmakers, Ilse Feenstra, Petra F De Vries, Bert B A De Vries

Hum Mol Genet· March 2016

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Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Janneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, Mary K Kukolich, Ralitza H Gavrilova, Bert B A de Vries

Am J Med Genet A· March 2016

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Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
Josephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar, Sander J A Beekmans, Bert B A de Vries

Am J Hum Genet· September 2015

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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Shannon Marchegiani, Taylor Davis, Federico Tessadori, Gijs van Haaften, Francesco Brancati, Bert B A de Vries

Am J Hum Genet· July 2015

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