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American Journal of Medical Genetics. Part A|September 4, 2015
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicingRüstem Yilmaz, Ana Beleza-Meireles, Susan Price, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphismAna Beleza-Meireles, Eunice Matoso, Lina Ramos, et al.
Hepatology (Baltimore, Md.)|April 8, 2015
Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2Sharat Varma, Nicole Revencu, Xavier Stephenne, et al.
Metabolism: Clinical and Experimental|May 20, 2017
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)Sahar Elouej, Ana Beleza-Meireles, Richard Caswell, et al.
Clinical Genetics|September 1, 2022
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin modelSilvia Beatriz Sanchez Marco, Edgar Buhl, Rose Firth, et al.
BMC Medical Genomics|June 7, 2021
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics eraAtaf H Sabir, Elizabeth Morley, Jameela Sheikh, et al.
American Journal of Medical Genetics. Part A|May 14, 2022
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndromeAnita Kaw, Kaveeta Kaw, Ellen M Hostetler, et al.
American Journal of Human Genetics|October 7, 2022
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movementShenzhao Lu, Mengqi Ma, Xiao Mao, et al.
Orphanet Journal of Rare Diseases|October 17, 2015
47 patients with FLNA associated periventricular nodular heterotopiaMax Lange, Burkhard Kasper, Axel Bohring, et al.
European Journal of Medical Genetics|July 25, 2015
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patientsAna Beleza-Meireles, Rachel Hart, Jill Clayton-Smith, et al.
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