List of works - Siren Berland

A clinical scoring system for congenital contractural arachnodactyly

scientific article published on 18 July 2019

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.

scientific article published in February 2018

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

scientific article

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

scientific article

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

scientific article published on 11 May 2021

Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy

scientific article published on 2 September 2015

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

scientific article published on 26 June 2019

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements

scientific article (publication date: 10 August 2012)

Deep exploration of a <i>CDKN1C</i> mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay

scientific article published on 21 December 2020

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

scientific article

Evidence for anticipation in Beckwith-Wiedemann syndrome

scientific article published on 10 April 2013

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

scientific article published on 05 August 2014

Further delineation of the KAT6B molecular and phenotypic spectrum

scientific article

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

scientific article published on 6 September 2016

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

scientific article published on 14 December 2008

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability

scientific article published on 26 March 2014

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

scientific article published on 30 November 2011

Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.

scientific article published in October 2010

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

scientific article published on 01 November 2018

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

scientific article published on 19 July 2011

Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents

scientific article published on 10 August 2020

Special outpatient clinic for skeletal dysplasias

scientific article published on 10 March 2015

The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level

scientific article published on 24 October 2016

List of works by Siren Berland

A clinical scoring system for congenital contractural arachnodactyly

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements

Deep exploration of a <i>CDKN1C</i> mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

Evidence for anticipation in Beckwith-Wiedemann syndrome

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

Further delineation of the KAT6B molecular and phenotypic spectrum

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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

Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents

Special outpatient clinic for skeletal dysplasias

The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level