M. Reijnders

发表

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Kali T. Witherspoon, Bradley P. Coe, J. Shendure, 2014, Nature Genetics.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Peter N. Robinson, M. Reijnders, J. Hehir-Kwa, 2019, Front. Genet..

M. Reijnders, Margot R. F. Reijnders, 2019, The American Psychiatric Association Publishing Textbook of Psychiatry.

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

L. Vissers, J. Schuurs-Hoeijmakers, A. Hoischen, 2016, European Journal of Human Genetics.

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

L. Vissers, R. Pfundt, M. Reijnders, 2016, Nature Neuroscience.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

R. Pfundt, M. Reijnders, B. D. de Vries, 2017, American journal of human genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

R. Pfundt, M. Reijnders, D. Schubert, 2019, bioRxiv.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

University of Groningen De Novo Loss-of-Function Mutations in USP 9 X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

R. Pfundt, M. Reijnders, J. Gécz, 2018 .

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

R. Pfundt, M. Reijnders, J. Gécz, 2016, American journal of human genetics.

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

R. Pfundt, M. Reijnders, S. Küry, 2018, Clinical genetics.

Germline AGO2 mutations impair RNA interference and human neurological development

R. Pfundt, M. Reijnders, G. Meister, 2020, Nature Communications.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

J. Rosenfeld, M. Reijnders, J. Lupski, 2017, American journal of human genetics.

Chromosomal aberrations in cerebral visual impairment.

R. Pfundt, M. Reijnders, B. D. de Vries, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

R. Pfundt, M. Reijnders, B. Franke, 2017, Nature Communications.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability

L. Vissers, R. Pfundt, M. Reijnders, 2016, bioRxiv.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

R. Pfundt, M. Reijnders, T. Kleefstra, 2017, PLoS genetics.

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

L. Vissers, J. Schuurs-Hoeijmakers, A. Hoischen, 2016, Human molecular genetics.

M. Hurles, L. Vissers, A. Hoischen, 2015, The Journal of clinical investigation.

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

Patrick J. Short, M. Hurles, L. Vissers, 2019, bioRxiv.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

M. Reijnders, D. Baralle, P. Selber, 1993 .

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Vinodh Narayanan, Christian Kubisch, Dominique Bonneau, 2018, American journal of human genetics.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Expanding the neurodevelopmental phenotype of PURA syndrome

M. Reijnders, D. Baralle, L. Bennetto, 2018, American journal of medical genetics. Part A.