Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. (Q53600855)

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English	Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.	scientific article

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1 March 2020

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes (English)

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Krystyna Chrzanowska

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Encarna Guillén Navarro

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Bernd Wollnik

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Nuria C Bramswig

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Hermann-Josef Lüdecke

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Yasemin Alanay

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Beate Albrecht

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Alexander Barthelmie

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Koray Boduroglu

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Diana Braunholz

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Johanna Christina Czeschik

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Sabine Endele

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Elisabeth Graf

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Pelin Özlem Simsek Kiper

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Vanesa López-González

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Ilaria Parenti

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Jelena Pozojevic

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1 March 2020

Gulen Eda Utine

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Thomas Wieland

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Frank J Kaiser

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Tim M Strom

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Dagmar Wieczorek

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28 February 2015

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1 March 2020

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1 March 2020

134

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6

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1 March 2020

553-568

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1 March 2020

PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Unmasking Kabuki syndrome

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

De novo mutations in MLL cause Wiedemann-Steiner syndrome

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

An unusual syndrome with mental retradation and sparse hair

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Comparison of Vineland Adaptive Behavior Scales-Survey Form age equivalent and standard score with the Bayley Mental Development Index.

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Phenotype and genotype in Nicolaides-Baraitser syndrome

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Nicolaides-Baraitser syndrome: Delineation of the phenotype

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

De novo SOX11 mutations cause Coffin-Siris syndrome

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

SWI/SNF nucleosome remodellers and cancer.

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

1 reference

https://api.crossref.org/works/10.1007/S00439-015-1535-8

21 January 2018

Motor skills, cognitive development and balance functions of children with Down syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25724810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

1 reference

https://pubmed.ncbi.nlm.nih.gov/25724810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An unusual syndrome with mental retardation and sparse hair

1 reference

https://pubmed.ncbi.nlm.nih.gov/25724810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/25724810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mental Retardation With Absent Fifth Fingernail and Terminal Phalanx

1 reference

https://pubmed.ncbi.nlm.nih.gov/25724810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25724810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital heart defects in Kabuki syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25724810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-015-1535-8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25724810 AND SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25724810 AND SRC:MED&resulttype=core&format=json

1 March 2020

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