Publications by authors named "Patrick Rump"

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RICTOR variants are associated with neurodevelopmental disorders.
Raphael Carapito, Anne Molitor, Lisa Pavinato, Alaa Skeyni, Magalie Lambert, Patrick Rump

Eur J Hum Genet· July 2025

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Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Marta Codina-Solà, Brynjar O Jensson, Patrick Rump

Nat Genet· June 2025

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Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
Amber de Haan, Albertien M van Eerde, Mark Eijgelsheim, Patrick Rump, Bert van der Zwaag

Kidney Int· May 2023

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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, Patrick Rump

Genet Med· January 2023

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Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Rachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, Nesrin Sabha, Michael Tropak, Patrick Rump

Genet Med· November 2022

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De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Hyung-Lok Chung, Patrick Rump, Di Lu, Megan R Glassford, Jung-Wan Mok

Hum Mol Genet· September 2022

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Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.
Alexander J M Dingemans, Diante E Stremmelaar, Roos van der Donk, Lisenka E L M Vissers, David A Koolen, Patrick Rump

Eur J Hum Genet· September 2021

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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Fuad Chowdhury, Lei Wang, Mohammed Al-Raqad, David J Amor, Alice Baxová, Patrick Rump

Genet Med· July 2021

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Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy.
Danique R M Vlaskamp, Patrick Rump, Petra M C Callenbach, Eva H Brilstra, Mary E Velthuizen

Eur J Paediatr Neurol· May 2021

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Etiological diagnosis in limb reduction defects and the number of affected limbs: A population-based study in the Northern Netherlands.
Jorieke E H Bergman, Katharina Löhner, Corry K van der Sluis, Patrick Rump, Hermien E K de Walle

Am J Med Genet A· December 2020

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Germline AGO2 mutations impair RNA interference and human neurological development.
Davor Lessel, Daniela M Zeitler, Margot R F Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Patrick Rump

Nat Commun· November 2020

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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Alison M Muir, Jennifer L Cohen, Sarah E Sheppard, Pavithran Guttipatti, Tsz Y Lo, Patrick Rump

Am J Hum Genet· May 2020

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick R Blackburn, Abdul Haseeb, Patrick Rump

Genet Med· March 2020

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Chris Balak, Marianne Benard, Elise Schaefer, Sumaiya Iqbal, Keri Ramsey, Patrick Rump

Am J Hum Genet· September 2019

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PRRT2-related phenotypes in patients with a 16p11.2 deletion.
Danique R M Vlaskamp, Petra M C Callenbach, Patrick Rump, Lucia A A Giannini, Eva H Brilstra

Eur J Med Genet· April 2019

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Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Laura V Vandervore, Rachel Schot, Esmee Kasteleijn, Renske Oegema, Katrien Stouffs, Patrick Rump

Brain· April 2019

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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Patrick Rump

PLoS Genet· April 2019

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GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Vincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, Katie F M Marwick, Gabrielle Rudolf, Patrick Rump

Brain· January 2019

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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Patrick Rump

Am J Hum Genet· October 2018

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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Patrick Rump

Am J Hum Genet· May 2018

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Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Andrea Wenzel, Janine Altmueller, Arif B Ekici, Bernt Popp, Kurt Stueber, Patrick Rump

Sci Rep· March 2018

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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Daniela A Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Patrick Rump

Nat Genet· October 2017

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Rapid Targeted Genomics in Critically Ill Newborns.
Cleo C van Diemen, Wilhelmina S Kerstjens-Frederikse, Klasien A Bergman, Tom J de Koning, Birgit Sikkema-Raddatz, Patrick Rump

Pediatrics· October 2017

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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Paweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, Leah Slattery, Haley Streff, Patrick Rump

Am J Hum Genet· October 2017

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Copy number variation in a hospital-based cohort of children with epilepsy.
Danique R M Vlaskamp, Petra M C Callenbach, Patrick Rump, Lucia A A Giannini, Trijnie Dijkhuizen

Epilepsia Open· June 2017

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