Thomas Smol

France

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Articles (10)

Year:

2024

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2024

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2024

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2024

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2024

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2024

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2024

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2023

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2023

Year:

2023

Collaborators (5)

Christiane Zweier

SWITZERLAND

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Sally Ann Lynch

IRELAND

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Véronique Pingault

FRANCE

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Vishnu Cuddapah

Assistant Professor

Baylor College of Medicine

UNITED STATES

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Massimiliano Rossi

Université Claude Bernard Lyon 1

FRANCE

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Thomas Smol

Research Interests

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Articles (10)

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Splice site variants in the canonical donor site ofMED13Lexon 7 lead to intron retention in patients withMED13Lsyndrome

Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella

Comparison of the ABC and ACMG systems for variant classification.

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.

Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder.

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.

Collaborators (5)

Christiane Zweier

Sally Ann Lynch

Véronique Pingault

Vishnu Cuddapah

Massimiliano Rossi

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