Nature Search

SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma

SMARCE1 loss destabilizes the canonical BAF complex and increases the formation of BRD9-containing non-canonical (ncBAF) complexes. SMARCE1-deficient cells, which are a model for clear cell meningioma, are sensitive to ncBAF complex inhibition.

Roodolph St. Pierre
Clayton K. Collings
Cigall Kadoch
Research09 Jun 2022
Nature Genetics

Volume: 54, P: 861-873
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families

Leigh A. M. Demain
Erica. H. Gerkes
William G. Newman
ResearchOpen Access12 Dec 2019
Journal of Human Genetics

Volume: 65, P: 305-311
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

Iris G. M. Wijnen
Hermine E. Veenstra-Knol
Erik-Jan Kamsteeg
Research10 Mar 2020
European Journal of Human Genetics

Volume: 28, P: 763-769
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

Nicolien M Hanemaaijer
Birgit Sikkema-Raddatz
Conny M A van Ravenswaaij-Arts
Research21 Sept 2011
European Journal of Human Genetics

Volume: 20, P: 161-165
Germline AGO2 mutations impair RNA interference and human neurological development

AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.

Davor Lessel
Daniela M. Zeitler
Hans-Jürgen Kreienkamp
ResearchOpen Access16 Nov 2020
Nature Communications

Volume: 11, P: 1-14
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

A genetic diagnosis remains unattainable for many individuals with a rare disease because of incomplete knowledge about the genetic basis of many diseases. Here, the authors present the web-based tool GADO (GeneNetwork Assisted Diagnostic Optimization) that uses public RNA-seq data for prioritization of candidate genes.

Patrick Deelen
Sipko van Dam
Lude Franke
ResearchOpen Access28 Jun 2019
Nature Communications

Volume: 10, P: 1-13
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Alexander J. M. Dingemans
Kim M. G. Truijen
Bert B. A. de Vries
ResearchOpen Access01 Oct 2022
Translational Psychiatry

Volume: 12, P: 1-11
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
Bert BA de Vries
Research26 Aug 2015
European Journal of Human Genetics

Volume: 24, P: 652-659
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Alexander J. M. Dingemans
Kim M. G. Truijen
Lisenka E. L. M. Vissers
Research15 Sept 2021
European Journal of Human Genetics

Volume: 30, P: 271-281
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs
Sandra Jansen
Gijs W. E. Santen
ResearchOpen Access08 Nov 2018
Genetics in Medicine

Volume: 21, P: 1295-1307
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Ash Zawerton
Cyril Mignot
Christel Depienne
Research03 Oct 2019
Genetics in Medicine

Volume: 22, P: 524-537
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Marjolein H Willemsen
Bridget A Fernandez
Tjitske Kleefstra
Research18 Nov 2009
European Journal of Human Genetics

Volume: 18, P: 429-435
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

Aafke Engwerda
Barbara Frentz
Conny M. A. van Ravenswaaij-Arts
ResearchOpen Access08 Jun 2018
European Journal of Human Genetics

Volume: 26, P: 1478-1489
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs
Sandra Jansen
Gijs W. E. Santen
Amendments and CorrectionsOpen Access29 Jan 2019
Genetics in Medicine

Volume: 21, P: 2160-2161

Search

SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma

A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

Germline AGO2 mutations impair RNA interference and human neurological development

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

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