| Journal article |
- 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
- Travessa, A.; Dias, P.; Rocha, P.; Sousa, A.B.. "Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz
syndrome (SLOS) in a 46,XX fetus". Taiwanese Journal of Obstetrics and Gynecology 56 4 (2017): 541-544. http://www.scopus.com/inward/record.url?eid=2-s2.0-85023742502&partnerID=MN8TOARS.
10.1016/j.tjog.2017.01.012
- Duarte, C.; Farinha, R.R.; Santos, A.R.; Dias, P.; Sousa, A.B.; Pereira, A.M.. "Description of a child with a 6q14.1-q16.1
interstitial deletion: A very rare entity with airway manifestations". International Journal of Pediatric Otorhinolaryngology
84 (2016): 147-150. http://www.scopus.com/inward/record.url?eid=2-s2.0-84961797467&partnerID=MN8TOARS.
10.1016/j.ijporl.2016.02.009
- Soeiro e Sá, M.; Moldovan, O.; Sousa, A.B.. "Macrodactyly in tuberous sclerosis complex: Case report and review of the literature".
American Journal of Medical Genetics, Part A 170 7 (2016): 1903-1907. http://www.scopus.com/inward/record.url?eid=2-s2.0-84973162115&partnerID=MN8TOARS.
10.1002/ajmg.a.37675
- Piard, J.; Aral, B.; Vabres, P.; Holder-Espinasse, M.; Mégarbané, A.; Gauthier, S.; Capra, V.; et al. "Search for ReCQL4 mutations
in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes". Clinical Genetics 87 3 (2015): 244-251.
http://www.scopus.com/inward/record.url?eid=2-s2.0-84922759785&partnerID=MN8TOARS.
10.1111/cge.12361
- Lourenço, R.; Dias, P.; Gouveia, R.; Sousa, A.B.; Oliveira, G.. "Neonatal McCune-Albright syndrome with systemic involvement:
A case report". Journal of Medical Case Reports 9 1 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84941009830&partnerID=MN8TOARS.
10.1186/s13256-015-0689-2
- Alvelos, M.I.; Rodrigues, M.; Lobo, L.; Medeira, A.; Sousa, A.B.; Simão, C.; Lemos, M.C.. "A novel mutation of the HNF1B gene
associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure". Medicine (United States) 94
7 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84928414011&partnerID=MN8TOARS.
10.1097/MD.0000000000000469
- Justino, A.; Dias, P.; João Pina, M.; Sousa, S.; Cirnes, L.; Berta Sousa, A.; Carlos Machado, J.; Costa, J.L.. "Comprehensive
massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes". European
Journal of Human Genetics 23 3 (2015): 347-353. http://www.scopus.com/inward/record.url?eid=2-s2.0-84938422130&partnerID=MN8TOARS.
10.1038/ejhg.2014.97
- Almeida, Ana. "Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach".
Mol Genet Genomic Med (2015):
10.1002/mgg3.133
- Syx, D.; Guillemyn, B.; Symoens, S.; Sousa, A.B.; Medeira, A.; Whiteford, M.; Hermanns-Lê, T.; et al. "Defective Proteolytic
Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form
of Osteogenesis Imperfecta". Journal of Bone and Mineral Research 30 8 (2015): 1445-1456. http://www.scopus.com/inward/record.url?eid=2-s2.0-84937161587&partnerID=MN8TOARS.
10.1002/jbmr.2473
- Esposito, G.; De Falco, F.; Neri, I.; Graziano, C.; Toschi, B.; Auricchio, L.; Gouveia, C.; Sousa, A.B.; Salvatore, F.. "Different
TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: Evidence of founder
effects in Portugal". British Journal of Dermatology 168 6 (2013): 1364-1367. http://www.scopus.com/inward/record.url?eid=2-s2.0-84878645760&partnerID=MN8TOARS.
10.1111/bjd.12179
- Barbosa, M.; Sousa, A.; Medeira, A.; Lourenço, T.; Saraiva, J.; Pinto-Basto, J.; Soares, G.; et al. "Clinical and molecular
characterization of Diastrophic Dysplasia in the Portuguese population". Clinical Genetics 80 6 (2011): 550-557. http://www.scopus.com/inward/record.url?eid=2-s2.0-80054934970&partnerID=MN8TOARS.
10.1111/j.1399-0004.2010.01595.x
- Gripp, K.W.; Hopkins, E.; Sol-Church, K.; Stabley, D.L.; Axelrad, M.E.; Doyle, D.; Dobyns, W.B.; et al. "Phenotypic analysis
of individuals with Costello syndrome due to HRAS p.G13C". American Journal of Medical Genetics, Part A 155 4 (2011):
706-716. http://www.scopus.com/inward/record.url?eid=2-s2.0-79953295126&partnerID=MN8TOARS.
10.1002/ajmg.a.33884
- Agarwal, A.K.; Xing, C.; Demartino, G.N.; Mizrachi, D.; Hernandez, M.D.; Sousa, A.B.; Martínez De Villarreal, L.; Dos Santos,
H.G.; Garg, A.. "PSMB8 encoding the ß5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia,
and panniculitis-induced lipodystrophy syndrome". American Journal of Human Genetics 87 6 (2010): 866-872. http://www.scopus.com/inward/record.url?eid=2-s2.0-78649775528&partnerID=MN8TOARS.
10.1016/j.ajhg.2010.10.031
- Garg, A.; Hernandez, M.D.; Sousa, A.B.; Subramanyam, L.; De Villarreal, L.M.; Dos Santos, H.G.; Barboza, O.. "An autosomal
recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy".
Journal of Clinical Endocrinology and Metabolism 95 9 (2010): http://www.scopus.com/inward/record.url?eid=2-s2.0-77956579857&partnerID=MN8TOARS.
10.1210/jc.2010-0488
- Almeida, M.R.; Campos-Xavier, A.B.; Medeira, A.; Cordeiro, I.; Sousa, A.B.; Lima, M.; Soares, G.; et al. "Clinical and Molecular
diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3)
in Portugal". Clinical Genetics 75 2 (2009): 150-156. http://www.scopus.com/inward/record.url?eid=2-s2.0-58849084644&partnerID=MN8TOARS.
10.1111/j.1399-0004.2008.01123.x
- Sousa, A.B.; Medeira, A.; Kamath, B.M.; Spinner, N.B.; Cordeiro, I.. "Familial stenosis of the pulmonary artery branches with
a JAG1 mutation | Estenose familiar dos ramos da artéria pulmonar com mutaçäo em JAG1". Revista Portuguesa de Cardiologia
25 4 (2006): 447-452. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745650495&partnerID=MN8TOARS.
- Küppers R; Sousa AB; Baur AS; Strickler JG; Rajewsky K; Hansmann ML; Küppers, R.; et al. "Common germinal-center B-cell origin
of the malignant cells in two composite lymphomas, involving classical Hodgkin's disease and either follicular lymphoma or
B-CLL.". Molecular medicine (Cambridge, Mass.) 7 5 (2001): 285-292. http://europepmc.org/abstract/med/11474574.
10.1007/bf03402211
- Martinsohn JT; Sousa AB; Guethlein LA; Howard JC; Martinsohn, J.Th.; Sousa, A.B.; Guethlein, L.A.; Howard, J.C.. "The gene
conversion hypothesis of MHC evolution: a review.". Immunogenetics 50 3-4 (1999): 168-200. http://europepmc.org/abstract/med/10602879.
10.1007/s002510050593
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