J. Schuurs-Hoeijmakers

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.

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.

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

J. Schuurs-Hoeijmakers, B. D. de Vries, F. Riemslag, 2014, JAMA ophthalmology.

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

J. Schuurs-Hoeijmakers, B. Ceulemans, T. Kleefstra, 2016, Journal of Medical 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.

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

P. Kemmeren, L. Vissers, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

J. Schuurs-Hoeijmakers, J. Veltman, W. Kloosterman, 2012, Nature Genetics.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

J. Schuurs-Hoeijmakers, A. Hoischen, J. Hehir-Kwa, 2019, Genome Medicine.

Genetic screening for TLR7 variants in young and previously healthy men with severe COVID-19: a case series

J. Schuurs-Hoeijmakers, A. Hoischen, F. Setién, 2021, medRxiv.

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2013, Journal of Medical Genetics.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

J. Schuurs-Hoeijmakers, N. de Leeuw, E. Bongers, 2011, Journal of Medical Genetics.

Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19

J. Schuurs-Hoeijmakers, A. Hoischen, F. Setién, 2021, Frontiers in Immunology.

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

L. Vissers, J. Schuurs-Hoeijmakers, B. D. de Vries, 2012, American journal of human genetics.

A review on age‐related cancer risks in PTEN hamartoma tumor syndrome

J. Schuurs-Hoeijmakers, N. Hoogerbrugge, J. Vos, 2020, Clinical genetics.

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

J. Schuurs-Hoeijmakers, V. Drouin‐Garraud, H. van Bokhoven, 2014, European journal of medical genetics.

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

J. Schuurs-Hoeijmakers, R. Pfundt, P. Lapunzina, 2009, European journal of medical genetics.

Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome.

J. Schuurs-Hoeijmakers, N. Hoogerbrugge, J. Schieving, 2021, European journal of medical genetics.

Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing

J. Schuurs-Hoeijmakers, I. Joosten, M. van Deuren, 2021, Clinical & translational immunology.

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

J. Schuurs-Hoeijmakers, J. Conroy, S. Ennis, 2014, Nature Genetics.

C 14 ORF 179 encoding IFT 43 is mutated in Sensenbrenner syndrome

J. Schuurs-Hoeijmakers, E. Bongers, H. Brunner, 2019 .

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

J. Schuurs-Hoeijmakers, M. Genuardi, T. Kleefstra, 2022, European journal of medical genetics.

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

Baralle, A. V. Vulto-van Silfhout, L. Vissers, 2022, medRxiv.

Homozygosity mapping in outbred families with mental retardation

J. Schuurs-Hoeijmakers, R. Pfundt, J. Hehir-Kwa, 2011, European Journal of Human Genetics.

Clinical delineation of the PACS1‐related syndrome—Report on 19 patients

M. Hurles, J. Schuurs-Hoeijmakers, B. D. de Vries, 2016, American journal of medical genetics. Part A.

Clinical Significance of De Novo and Inherited Copy‐Number Variation

A. V. Vulto-van Silfhout, J. Schuurs-Hoeijmakers, R. Pfundt, 2013, Human mutation.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Kali T. Witherspoon, B. Coe, K. Witherspoon, 2017, European Journal of Human Genetics.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Bradley P. Coe, B. Coe, J. Schuurs-Hoeijmakers, 2016, American journal of human genetics.

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Jay Shendure, Serafino Buono, Hilde Peeters, 2014, Cell.

Kali T. Witherspoon, Bradley P. Coe, B. Coe, 2014, Nature Genetics.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb

B. V. van Bon, J. Schuurs-Hoeijmakers, R. Pfundt, 2009, Journal of Medical 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.

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

J. Schuurs-Hoeijmakers, H. Mandel, J. van Reeuwijk, 2011, PLoS genetics.

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

J. Schuurs-Hoeijmakers, S. Antonarakis, R. Płoski, 2021, Genetics in Medicine.

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

P. Kemmeren, L. Vissers, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

A. V. Vulto-van Silfhout, L. Vissers, J. Schuurs-Hoeijmakers, 2012, American journal of human genetics.

Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome

J. Schuurs-Hoeijmakers, K. Mosterd, M. A. Abdul Hamid, 2022, Journal of Clinical Pathology.

Presence of Genetic Variants Among Young Men With Severe COVID-19.

J. Schuurs-Hoeijmakers, A. Hoischen, M. Jaeger, 2020, JAMA.

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.

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

J. Schuurs-Hoeijmakers, A. Haeringen, E. Bakker, 2009, European 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.

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

J. Schuurs-Hoeijmakers, A. Hoischen, E. Hoppenreijs, 2022, medRxiv.

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

J. Schuurs-Hoeijmakers, R. Pfundt, B. D. de Vries, 2018, Clinical genetics.

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome

J. Schuurs-Hoeijmakers, E. Hoppenreijs, D. Lugtenberg, 2016, Pediatric Rheumatology.

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.

camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome

J. Schuurs-Hoeijmakers, D. Lugtenberg, M. Flier, 2016 .

Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome.

J. Schuurs-Hoeijmakers, C. Houdayer, S. Aretz, 2022, Journal of the National Cancer Institute.

Gene identification in intellectual disability

J. Schuurs-Hoeijmakers, 2012 .

Duplications of SLC1A3: Associated with ADHD and autism.

J. Schuurs-Hoeijmakers, R. Pfundt, N. de Leeuw, 2016, European journal of medical genetics.

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

J. Schuurs-Hoeijmakers, M. Lilien, C. Marcelis, 2021, American journal of medical genetics. Part A.

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2023, Nature Genetics.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

J. Schuurs-Hoeijmakers, N. de Leeuw, E. Bongers, 2011, Journal of Medical Genetics.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Nurit Assia Batzir, J. Schuurs-Hoeijmakers, R. Pfundt, 2024, American journal of human genetics.

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2024, Nature medicine.

PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders

J. Schuurs-Hoeijmakers, R. Pfundt, T. Kleefstra, 2023, medRxiv.

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.

J. Schuurs-Hoeijmakers, R. Pfundt, M. Netea, 2024, American journal of human genetics.

Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single-center study.

J. Schuurs-Hoeijmakers, J. Schieving, R. S. van der Post, 2024, International journal of cancer.