E. Aten

发表

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Christian Gilissen, Martijn H Breuning, Marjolein Kriek, 2012, Nature Genetics.

Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases

Bradley P. Coe, B. Coe, K. Friend, 2017, Nature Genetics.

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

S. Robertson, J. Celli, J. D. den Dunnen, 2010, American journal of human genetics.

The Implicitome: A Resource for Rationalizing Gene-Disease Associations

Barend Mons, Rajaram Kaliyaperumal, Jan A. Kors, 2016, PloS one.

Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology

Jeroen J. Bax, M. Schalij, D. Barge-Schaapveld, 2020, Journal of Medical Genetics.

Structural genomic variation in childhood epilepsies with complex phenotypes

M. Poot, U. Stephani, N. Tommerup, 2013, European Journal of Human Genetics.

Genetic islands of Streptococcus agalactiae strains NEM316 and 2603VR and their presence in other Group B Streptococcal strains

Lori A. S. Snyder, E. Aten, N. Saunders, 2005, BMC Microbiology.

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

J. T. Dunnen, B. Oostra, B. P. Warrenburg, 2013, Human mutation.

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

J. Rosenfeld, A. Hamosh, Yaping Yang, 2016, Genetics in Medicine.

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

R. Vossen, K. Grzeschik, J. D. den Dunnen, 2010, Human mutation.

GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America

J. D. den Dunnen, M. Breuning, G. Santen, 2013, American journal of medical genetics. Part A.

Chapter 5 Finding gene-disease relations using implicit information in the scientific literature

M. Schuemie, E. Schultes, B. Mons, 2011 .

Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia

C. Ruivenkamp, M. Breuning, G. Santen, 2012, Journal of Medical Genetics.

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

N. Blom, L. Rozendaal, J. V. van Lith, 2020, Genetics in Medicine.

Putting genome-wide sequencing in neonates into perspective

A. Haeringen, D. Barge-Schaapveld, C. Ruivenkamp, 2018, Genetics in Medicine.

Methods to detect CNVs in the human genome

R. Vossen, J. D. den Dunnen, S. White, 2009, Cytogenetic and Genome Research.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

B. Coe, K. Friend, P. Lockhart, 2017, Nature Genetics.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

High‐Resolution Melting Analysis (HRMA)—More than just sequence variant screening

R. Vossen, J. D. den Dunnen, E. Aten, 2009, Human mutation.

From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

C. Ruivenkamp, M. Haak, G. Santen, 2019, Genetics in Medicine.

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

L. Hoefsloot, E. Korpershoek, J. Saris, 2022, Human mutation.

Split hand‐foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity?

J. D. den Dunnen, H. van Bokhoven, C. Ruivenkamp, 2009, American journal of medical genetics. Part A.

A. Wilde, M. P. van den Berg, G. T. te Meerman, 2017, Circulation. Cardiovascular genetics.

Imprinting: the Achilles heel of trio-based exome sequencing

C. Schaaf, A. Haeringen, G. Santen, 2016, Genetics in Medicine.

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

A. Collins, R. Newbury-Ecob, B. Kerr, 2019, European Journal of Human Genetics.

Exome Sequencing Identifies A Branch Point Variant in Aarskog–Scott Syndrome

J. D. den Dunnen, M. Breuning, G. Santen, 2013, Human mutation.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

J. Rosenfeld, P. Stankiewicz, R. Stevenson, 2021, American journal of human genetics.

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.

E. Aten, B. Anderlid, A. Tabet, 2023, European journal of medical genetics.

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

N. Blom, L. Rozendaal, J. V. van Lith, 2020, Genetics in Medicine.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Putting genome-wide sequencing in neonates into perspective

A. Haeringen, D. Barge-Schaapveld, C. Ruivenkamp, 2018, Genetics in Medicine.

Methods to detect CNVs in the human genome

J. D. Dunnen, M. Breuning, E. Aten, 2009, Cytogenetic and Genome Research.