Artigo em revista |
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three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.". American journal
of human genetics (2025): https://europepmc.org/articles/PMC12081239.
10.1016/j.ajhg.2025.02.015
- Macedo C; Rodrigues R; Monteiro JP; Sousa A; Sousa AB; Soeiro E Sá M. "Familiar case of a small TBC1D24 and ATP6V0C -containing
microdeletion associated with developmental delay, microcephaly, and seizures.". Clinical dysmorphology (2025): https://doi.org/10.1097/MCD.0000000000000525.
10.1097/mcd.0000000000000525
- Beatriz Anjo Lima; Ana Carolina Pais; Juliette Dupont; Patrícia Dias; Noélia Custódio; Ana Berta Sousa; Maria Carmo-Fonseca;
Célia Carvalho. "Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells". Life Science Alliance
(2025): https://doi.org/10.26508/lsa.202402845.
10.26508/lsa.202402845
- Andrea Zanetti; Gwendal Dujardin; Lucas FARES TAIE; jeanne amiel; Jerome Roger; Isabelle Audo; Robert MP; et al. "GPATCH11
variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.". Nature communications
(2024): https://europepmc.org/articles/PMC11582697.
10.1038/s41467-024-54549-8
- Ana Belen Iglesias Romero; Karolina Kaminska; Quinodoz M; Folcher M; Siying Lin; Arno G; Joaquim Calado; et al. "Bi-allelic
variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.". American
journal of human genetics (2024): https://europepmc.org/articles/PMC11480794.
10.1016/j.ajhg.2024.08.005
- Malka S; Biswas P; Berry AM; Sangermano R; Ullah M; Siying Lin; D'Antonio M; et al. "Substitution of a single non-coding nucleotide
upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.". American
journal of human genetics (2024): https://europepmc.org/articles/PMC11393691.
10.1016/j.ajhg.2024.07.020
- Schmetz A; Ballesta-Martínez MJ; Isidor B; Sousa AB; Wieczorek D; Bramswig NC. "Adult syndromology: challenges, opportunities
and perspectives: Illustrated by the description of four adults with Costello syndrome.". Medizinische Genetik :
Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V (2024): https://doi.org/10.1515/medgen-2024-2023.
10.1515/medgen-2024-2023
- Telmo Cortinhal; Cristina Santos; Sara Vaz-Pereira; Ana Marta; Lilianne Duarte; Vitor Miranda; José Costa; et al. "Genetic
profile of syndromic retinitis pigmentosa in Portugal". Graefe's Archive for Clinical and Experimental Ophthalmology
(2024): https://doi.org/10.1007/s00417-023-06360-2.
10.1007/s00417-023-06360-2
- André Travessa; Dias P; Rosmaninho-Salgado J; Aza-Carmona M; Moldovan O; Díaz-González F; Godinho F; et al. "Characterization
of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.". European
journal of medical genetics (2023): https://doi.org/10.1016/j.ejmg.2023.104867.
10.1016/j.ejmg.2023.104867
- Virginie G. Peter; Karolina Kaminska; Cristina Santos; Mathieu Quinodoz; Francesca Cancellieri; Katarina Cisarova; Rosanna
Pescini Gobert; et al. "The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent
homozygous mutations as a frequent cause of pathogenesis.". PNAS nexus (2023): https://europepmc.org/articles/PMC10003751.
10.1093/pnasnexus/pgad043
- Rodrigues R; Soeiro E Sá M; Sousa A; Sousa AB. "Clinical characterization of a patient with CNOT2 haploinsufficiency caused
by a de novo partial deletion.". Clinical dysmorphology (2022): https://doi.org/10.1097/MCD.0000000000000444.
10.1097/mcd.0000000000000444
- Ricardo Rios Crespo; Currais P; Craciun A; Sobral Dias M; Lopes J; Cabral Braga T; Matos H; et al. "Juvenile Polyposis Syndrome
Complicated With Gastric Outlet Obstruction.". ACG case reports journal (2022): https://europepmc.org/articles/PMC9663133.
10.14309/crj.0000000000000886
- Silva RG; Dupont J; Silva E; Sousa AB. "New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene.".
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
(2022): https://doi.org/10.1016/j.jaapos.2022.05.008.
10.1016/j.jaapos.2022.05.008
- Costa S; Sampaio L; Berta Sousa A; Chao Xing; Agarwal AK; Abhimanyu Garg. "Face-sparing Congenital Generalized Lipodystrophy
Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.". The Journal of clinical endocrinology and metabolism
(2022): https://europepmc.org/articles/PMC9387702.
10.1210/clinem/dgac406
- Cristina Santos; Andreia Almeida; Rita Pinto; Karolina Kaminska; Virginie G. Peter; Ana-Berta Sousa; Carlo Rivolta; Luísa
Coutinho-Santos. "Anisometropia and asymmetric ABCA4-related cone-rod dystrophy". Ophthalmic Genetics (2022): 1-5.
https://doi.org/10.1080/13816810.2022.2103834.
10.1080/13816810.2022.2103834
- Zinterl C; Costa-Reis P; Esteves IC; JOSÉ MARQUES; Sousa AB; Fonseca JE; Oliveira Ramos F. "The Added Value of a Multidisciplinary
Clinic for Systemic Autoinflammatory Diseases.". Journal of multidisciplinary healthcare (2022): https://europepmc.org/articles/PMC9081005.
10.2147/jmdh.s351546
- Paneque M; Carvalho M; Rodrigues F; Saraiva J; Leonardo A; Sousa AB; Machado V; et al. "A new scale informed by the Reciprocal-Engagement
Model for quality evaluation of genetic counselling by patients: Development and initial validation.". European journal
of medical genetics (2021): http://europepmc.org/abstract/med/34740860.
10.1016/j.ejmg.2021.104375
- Frede N; Rojas-Restrepo J; Caballero Garcia de Oteyza A; Buchta M; Hübscher K; Gámez-Díaz L; Proietti M; et al. "Genetic Analysis
of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.". Journal of clinical immunology
(2021): http://europepmc.org/abstract/med/34390440.
10.1007/s10875-021-01086-4
- Polla DL; Edmondson AC; Duvet S; March ME; Sousa AB; Lehman A; CAUSES Study; et al. "Bi-allelic variants in the ER quality-control
mannosidase gene EDEM3 cause a congenital disorder of glycosylation.". American journal of human genetics (2021): http://europepmc.org/abstract/med/34143952.
10.1016/j.ajhg.2021.05.010
- Sangermano R; Deitch I; Peter VG; Ba-Abbad R; Place EM; Zampaglione E; Wagner NE; et al. "Broadening INPP5E phenotypic spectrum:
detection of rare variants in syndromic and non-syndromic IRD.". NPJ genomic medicine (2021): http://europepmc.org/abstract/med/34188062.
10.1038/s41525-021-00214-8
- Lamounier Junior A; Guitián González A; Rodríguez Vilela A; Repáraz Andrade A; Rubio Alcaide Á; Berta Sousa A; Benito López
C; Alonso García D; Monserrat Iglesias L. "Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study
in Portugal and Spain of the TPM1 p.Arg21Leu variant.". Revista espanola de cardiologia (English ed.) (2021): http://europepmc.org/abstract/med/33642254.
10.1016/j.rec.2021.01.001
- Dupont J; Vieira JP; Tavares ALT; Conceição CR; Khan S; Bertoli-Avella AM; Sousa AB. "Adding evidence to the role of NEUROG1
in congenital cranial dysinnervation disorders.". Clinical genetics (2021): http://europepmc.org/abstract/med/33439489.
10.1111/cge.13922
- Quinodoz M; Peter VG; Bedoni N; Royer Bertrand B; Cisarova K; Salmaninejad A; Sepahi N; et al. "AutoMap is a high performance
homozygosity mapping tool using next-generation sequencing data.". Nature communications (2021): http://europepmc.org/abstract/med/33483490.
10.1038/s41467-020-20584-4
- Peter VG; Quinodoz M; Sadio S; Held S; Rodrigues M; Soares M; Sousa AB; et al. "New clinical and molecular evidence linking
mutations in ARSG to Usher syndrome type IV.". Human mutation (2020): http://europepmc.org/abstract/med/33300174.
10.1002/humu.24150
- Legrand A; Pujol C; Durand CM; Mesnil A; Rubera I; Duranton C; Zuily S; et al. "Pseudoxanthoma Elasticum overlaps Hereditary
Spastic Paraplegia Type 56.". Journal of internal medicine (2020): http://europepmc.org/abstract/med/33107650.
10.1111/joim.13193
- Escudeiro C; Pinto C; Vieira J; Peixoto A; Pinto P; Pinheiro M; Santos C; et al. "The role of TP53 pathogenic variants in
early-onset HER2-positive breast cancer.". Familial cancer (2020): http://europepmc.org/abstract/med/33051812.
10.1007/s10689-020-00212-2
- Travessa AM; Díaz-González F; Mirco T; Oliveira-Ramos F; Parrón-Pajares M; Heath KE; Sousa AB. "Spondyloepiphyseal dysplasia
type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.". American journal
of medical genetics. Part A (2020): http://europepmc.org/abstract/med/32856782.
10.1002/ajmg.a.61817
- Travessa AM; Santo S; Luís R; Carvalho Afonso M; Carvalho R; Vitorino E; Sousa AB. "A fetus with an immature umbilical cord
teratoma associated with exomphalos: case report and review of the literature.". Romanian journal of morphology and embryology
= Revue roumaine de morphologie et embryologie (2020): http://europepmc.org/abstract/med/33817740.
10.47162/rjme.61.3.37
- Martins R; Moldovan O; Sousa AB; Levy A; Quintas S. "[Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic
Diagnosis].". Acta medica portuguesa (2020): http://europepmc.org/abstract/med/32504517.
10.20344/amp.12550
- Almeida, Ana. "VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease.". Amyotrophic
lateral sclerosis & frontotemporal degeneration (2020): https://doi.org/10.1080/21678421.2020.1746343.
10.1080/21678421.2020.1746343
- Almeida, Ana. "Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related
disorder.". Genetics in medicine : official journal of the American College of Medical Genetics (2020): https://doi.org/10.1038/s41436-020-0760-2.
10.1038/s41436-020-0760-2
- Lipari Pinto P; Machado C; Janeiro P; Dupont J; Quintas S; Sousa AB; Gaspar A. "NGLY1 deficiency-A rare congenital disorder
of deglycosylation.". JIMD reports (2020): http://europepmc.org/abstract/med/32395402.
10.1002/jmd2.12108
- Almeida, Ana. "Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance
of chromosomal microarray in limb reduction defects.". Taiwanese journal of obstetrics & gynecology (2020): https://doi.org/10.1016/j.tjog.2020.01.024.
10.1016/j.tjog.2020.01.024
- Almeida, Ana. "GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related
disorder.". Genetics in medicine : official journal of the American College of Medical Genetics (2020): https://doi.org/10.1038/s41436-019-0747-z.
10.1038/s41436-019-0747-z
- Almeida, Ana. "Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile
Associated With a Polygenic Burden.". Frontiers in immunology (2019): https://europepmc.org/articles/PMC6882918.
10.3389/fimmu.2019.02503
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10.1016/j.ijporl.2016.02.009
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