List of works - Thomas Smol

A Novel Rare Missense Variation of the Gene: Evidencesof Implication in Crohn's Disease

article

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

scientific article published on 01 June 2020

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.

scientific article published on 7 June 2017

Clinical and genetic spectrum of SCN2A-associated episodic ataxia

scientific article published on 07 March 2019

Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diagnosed multiple myeloma.

scientific article

Comparison of IGH Profile Signals Using t(4;14) and IGH Break-Apart Probes by FISH in Multiple Myeloma

scientific article published on 18 October 2017

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

Cytogenetic landscape in 1012 newly diagnosed chronic lymphocytic leukemia

scientific article published on 01 October 2019

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

scientific article published on 31 January 2020

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

scientific article published on 31 March 2018

Fraser syndrome without cryptophthalmos: Two cases

scientific article published on 07 January 2020

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

scientific article published on 11 April 2020

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

scientific article published on 09 May 2019

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

scientific article published on 14 December 2018

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

scientific article published on 6 March 2018

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

scientific article published on 12 November 2019

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations

scientific article published on 23 September 2019

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

scientific article published on 10 December 2019

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

scientific article published on 03 May 2021

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

scientific article published on 07 May 2020

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder

scientific article published on 25 September 2020

Poor prognosis of chromosome 7 clonal aberrations in Philadelphia-negative metaphases and relevance of potential underlying myelodysplastic features in chronic myeloid leukemia

scientific article published on 20 December 2018

Quantification of EVI1 transcript levels in acute myeloid leukemia by RT-qPCR analysis: A study by the ALFA Group

scientific article published on 9 October 2015

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

scientific article published on 24 January 2017

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

scientific article published on 30 March 2020

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 clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

scientific article published on 12 August 2020

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 French cases.

scientific article published on 25 March 2018

List of works by Thomas Smol