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Genome Research|June 16, 2022
<i>HDAC9</i> structural variants disrupting <i>TWIST1</i> transcriptional regulation lead to craniofacial and limb malformationsNaama Hirsch, Idit Dahan, Eva D'haene, et al.
Journal of Cellular and Molecular Medicine|January 21, 2021
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorderCinzia Cameli, Marta Viggiano, Magali J Rochat, et al.
Molecular Cytogenetics|January 22, 2015
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disabilityAnna A Kashevarova, Lyudmila P Nazarenko, Soren Schultz-Pedersen, et al.
Cancers|March 11, 2023
Characterization of BRCA Deficiency in Ovarian CancerGiovanna Barbero, Roberta Zuntini, Pamela Magini, et al.
EMBO Molecular Medicine|April 15, 2015
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathyTommaso Pippucci, Alessandra Maresca, Pamela Magini, et al.
EMBO Molecular Medicine|April 17, 2014
Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patientsElena Bonora, Claudio Graziano, Fiorella Minopoli, et al.
American Journal of Medical Genetics. Part A|September 24, 2018
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disabilityAnna A Kashevarova, Lyudmila P Nazarenko, Nikolay A Skryabin, et al.
Human Genetics|June 4, 2020
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle EastFlavia Palombo, Claudio Graziano, Nadia Al Wardy, et al.
Human Molecular Genetics|February 22, 2014
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotypePamela Magini, Tommaso Pippucci, I-Chun Tsai, et al.
American Journal of Human Genetics|January 8, 2011
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2Tommaso Pippucci, Anna Savoia, Silverio Perrotta, et al.
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