De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T. Gordon, Bruno Reversade|Nature Genetics|2017Cited by 133
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Bruno Reversade, Hesham Aldhalaan et al.|Nature Communications|2020Cited by 55
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary HypoplasiaAriana Kariminejad, Bruno Reversade, Emmanuelle Szenker‐Ravi et al.|The American Journal of Human Genetics|2019Cited by 29
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosisRicardo Moreno Traspas, Bruno Reversade|Nature Genetics|2022Cited by 27
Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and ZebrafishHui Hui Wong, Bruno Reversade, Sze Hwee Seet et al.|medRxiv|2021Cited by 0