List of works - Samantha Schrier Vergano

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies

scientific article published on 27 June 2017

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.

scientific article

Congenital lumbar hernia-A feature of diabetic embryopathy?

scientific article published on 01 October 2018

Congenital methemoglobinemia type II in a 5-year-old boy.

scientific article

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

scientific article published on 01 September 2019

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients

scientific article published on 11 October 2020

First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations

scientific article published on 01 October 2018

Growth charts for individuals with Coffin-Siris syndrome

scientific article published on 27 August 2020

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.

scientific article published on 27 December 2013

Molecular and clinical spectra of FBXL4 deficiency.

scientific article published on 22 September 2017

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

scientific article published on 13 February 2018

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

scientific article

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

scientific article published on 5 June 2016

Schaaf-Yang syndrome overview: Report of 78 individuals

scientific article published on 10 October 2018

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

article

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

scientific article published on 07 August 2019

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

scientific article published on 17 August 2017

List of works by Samantha Schrier Vergano

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.

Congenital lumbar hernia-A feature of diabetic embryopathy?

Congenital methemoglobinemia type II in a 5-year-old boy.

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

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients

First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations

Growth charts for individuals with Coffin-Siris syndrome

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.

Molecular and clinical spectra of FBXL4 deficiency.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Schaaf-Yang syndrome overview: Report of 78 individuals

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

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.