Thomas Smol

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

Karin Weiss, Hayley P. Lazar, Alina Kurolap et al. · Genetics in Medicine · 2019 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne et al. · Brain · 2019 · 75 citations · Full text

Life Sciences, Genetics, Neurology +14

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

Cyril Mignot, Aoife McMahon, Claire Bar et al. · Genetics in Medicine · 2018 · 62 citations · Full text

Medicine, Genetics, Neurology +17

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

Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid et al. · European Journal of Human Genetics · 2018 · 62 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +5

<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Daphné Lehalle, Anne‐Laure Mosca‐Boidron, Amber Begtrup et al. · Journal of Medical Genetics · 2017 · 61 citations

Life Sciences, Genetics, Molecular Genetics +17