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Plos Genetics|December 16, 2024
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoidsJustine Guguin, Ting-Yu Chen, Silvestre Cuinat, et al.Genes|June 26, 2025
MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle AtresiaSara Cabet, Jean-François Ghersi-Egea, Suonavy Khung-Savatovsky, et al.RNA (New York, N.Y.)|June 9, 2019
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patientsAudric Cologne, Clara Benoit-Pilven, Alicia Besson, et al.Journal of Medical Genetics|September 1, 2010
BBS10 mutations are common in 'Meckel'-type cystic kidneysAudrey Putoux, Soumaya Mougou-Zerelli, Sophie Thomas, et al.Cytogenetic and Genome Research|March 19, 2020
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic MechanismPauline Monin, Nicolas Reynaud, Nadine Hanna, et al.Journal of Medical Genetics|November 6, 2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndromeAudrey Putoux, Sheela Nampoothiri, Nicole Laurent, et al.Molecular Psychiatry|November 29, 2023
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndromeJérémie Courraud, Camille Engel, Angélique Quartier, et al.European Journal of Human Genetics : EJHG|March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approachesSilvestre Cuinat, Nicolas Chatron, Florence Petit, et al.Clinical Genetics|December 28, 2022
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombinationJulie Masson, Céline Pebrel-Richard, Matthieu Egloff, et al.Clinical Genetics|January 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature ReviewCindy Colson, Marine Tessarech, Elise Boucher-Brischoux, et al.Pageof 7