Artigo em revista |
- Nmezi B; Guillermo Rodriguez-Bey; Oranburg TD; Dudnyk K; Santana Lardo; Herdman N; Jacko A; et al. "An oligodendrocyte silencer
element underlies the pathogenic impact of lamin B1 structural variants.". Nature communications (2025): https://europepmc.org/articles/PMC11799162.
10.1038/s41467-025-56378-9
- Hoover-Fong J; Semler O; Barron B; Collett-Solberg PF; Fung E; Irving M; Kitaoka T; et al. "Considerations for Anthropometry
Specific to People with Disproportionate Short Stature.". Advances in therapy (2025): http://europepmc.org/abstract/med/39907899.
10.1007/s12325-024-03061-y
- Karimi K; Weis D; Aukrust I; Hsieh TC; Horackova M; Paulsen J; Roberto Mendoza-Londono; et al. "Epigenomic and phenotypic
characterization of DEGCAGS syndrome.". European journal of human genetics : EJHG (2024): https://doi.org/10.1038/s41431-024-01702-y.
10.1038/s41431-024-01702-y
- Sarli C; van der Laan L; Reilly J; Trajkova S; Carli D; Brusco A; Levy MA; et al. "Blepharophimosis with intellectual disability
and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.". American journal of medical genetics. Part C, Seminars
in medical genetics (2024): http://europepmc.org/abstract/med/38884529.
10.1002/ajmg.c.32089
- Fredwall S; AlSayed M; Ben-Omran T; Boero S; Cormier-Daire V; Fauroux B; Guillén-Navarro E; et al. "European Achondroplasia
Forum Practical Considerations for Following Adults with Achondroplasia.". Advances in therapy (2024): http://europepmc.org/abstract/med/38748332.
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- Oliver Semler; Valérie Cormier-Daire; Ekkehart Lausch; Michael B. Bober; Ricki Carroll; Sérgio B. Sousa; David Deyle; et al.
"Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice".
Advances in Therapy (2024): https://doi.org/10.1007/s12325-023-02705-9.
10.1007/s12325-023-02705-9
- Oliveira D; Maia S; Balacó I; Coelho P; Almeida S; Venâncio M; Saraiva J; Nishimura G; Sousa SB. "Pachydysostosis of the fibula
in a case of familial adenomatous polyposis.". European journal of medical genetics (2024): http://europepmc.org/abstract/med/38286305.
10.1016/j.ejmg.2024.104913
- Travessa AM; 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): http://europepmc.org/abstract/med/37839784.
10.1016/j.ejmg.2023.104867
- Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; et al.
"The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder". American journal of human genetics
(2023): https://europepmc.org/articles/PMC10257005.
10.1016/j.ajhg.2023.04.008
- Savarirayan, Ravi; Hoernschemeyer, Daniel G; Ljungberg, Merete; Zarate, Yuri A; Bacino, Carlos A; Bober, Michael B; Legare,
Janet M; et al. "Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre,
randomised, double-blind, placebo-controlled, dose-escalation trial". EClinicalMedicine (2023): https://europepmc.org/articles/PMC10562841.
10.1016/j.eclinm.2023.102258
- Maduro, Ana Isabel; Mendes, Beatriz; Saraiva, André Pinto; Sousa, Marlene; Marques, Marta; B Sousa, Sérgio; Salvador, Maria
João; Malcata, Armando; Serra, Sara. "Fibrodysplasia ossificans progressiva: when a double skeleton is present". Clinical
rheumatology (2023): https://link.springer.com/content/pdf/10.1007/s10067-023-06712-7.pdf.
10.1007/s10067-023-06712-7
- Awamleh, Zain; Choufani, Sanaa; Cytrynbaum, Cheryl; Alkuraya, Fowzan S; Scherer, Stephen; Fernandes, Sofia; Rosas, Catarina;
et al. "ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with
KBG syndrome". Human molecular genetics (2023): https://europepmc.org/articles/PMC10117159.
10.1093/hmg/ddac289
- Sousa, Marlene; Prata, Ana Rita; Maduro, Ana Isabel; Sousa, Sérgio B; Malcata, Armando. "Pycnodysostosis: A rare cause of
pathological fractures and exuberant clinical manifestations in two sisters". Joint bone spine (2023): https://doi.org/10.1016/j.jbspin.2023.105547.
10.1016/j.jbspin.2023.105547
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et al. "European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis". Orphanet
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10.1186/s13023-023-02795-2
- Díaz-González, Francisca; Parrón-Pajares, Manuel; Lucas-Castro, Elsa; Modamio-Høybjør, Silvia; Sentchordi-Montané, Lucia;
Seidel, Verónica; Prieto, Pablo; et al. "Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia,
RPL13-related: Description of 11 further cases". Clinical genetics (2023): https://doi.org/10.1111/cge.14351.
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- Cormier-Daire, Valerie; AlSayed, Moeenaldeen; Alves, Inês; Bengoa, Joana; Ben-Omran, Tawfeg; Boero, Silvio; Fredwall, Svein;
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- Fredwall, Svein; Allum, Yana; AlSayed, Moeenaldeen; Alves, Inês; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie;
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- Maduro, Ana Isabel; Pinto Saraiva, André; Pimenta Rodrigues, Orlando; Marques, Marta; B Sousa, Sérgio; Malcata, Armando; Perez
de Nanclares, Guiomar; Serra, Sara. "Albright's hereditary osteodystrophy: an entity to recognize". Rheumatology (Oxford,
England) (2022): https://doi.org/10.1093/rheumatology/keac277.
10.1093/rheumatology/keac277
- Calame, Daniel G; Herman, Isabella; Maroofian, Reza; Marshall, Aren E; Donis, Karina Carvalho; Fatih, Jawid M; Mitani, Tadahiro;
et al. "Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability,
Distinct White Matter Abnormalities, and Spastic Paraplegia". Annals of neurology (2022): https://europepmc.org/articles/PMC10054521.
10.1002/ana.26381
- Gomes, Tiago Fernandes; Kieselová, Katarina; Santiago, Felicidade; Cardoso, José C; Cunha, Fernanda; Sousa, Sérgio B; Perez
de Nanclares, Guiomar. "Congenital cutaneous ossification". Journal of paediatrics and child health (2022): https://doi.org/10.1111/jpc.15814.
10.1111/jpc.15814
- Kumble, Smitha; Levy, Amanda M; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J; et al. "The
clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder". Human mutation (2022): https://findresearcher.sdu.dk/ws/files/196826433/humu.24308.pdf.
10.1002/humu.24308
- Joana de Brito Chagas; Cordinhã C; do Carmo C; Cristina Alves; Karen E. Heath; Sousa SB; Gomes C. "Vitamin D-Dependent Rickets
Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population.". Journal of pediatric
genetics (2021): https://europepmc.org/articles/PMC10984714.
10.1055/s-0041-1736559
- Carminho-Rodrigues, Maria Teresa; Steel, Dora; Sousa, Sergio B; Brandt, Gregor; Guipponi, Michel; Laurent, Sacha; Fokstuen,
Siv; et al. "Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)". American
journal of medical genetics. Part A (2020): https://discovery.ucl.ac.uk/id/eprint/10111337/.
10.1002/ajmg.a.61731
- Cappuccio, Gerarda; Sayou, Camille; Tanno, Pauline Le; Tisserant, Emilie; Bruel, Ange-Line; Kennani, Sara El; Sá, Joaquim;
et al. "De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual
disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome". Genetics in medicine : official journal of
the American College of Medical Genetics (2020): http://www.gimjournal.org/article/S1098360021007851/pdf.
10.1038/s41436-020-0898-y
- Peter, Virginie G; Quinodoz, Mathieu; Pinto-Basto, Jorge; Sousa, Sergio B; Di Gioia, Silvio Alessandro; Soares, Gabriela;
Ferraz Leal, Gabriela; et al. "The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development,
is caused by a founder pathogenic variant in thePISD gene". Genetics in medicine : official journal of the American College
of Medical Genetics (2019): https://europepmc.org/articles/PMC6892740.
10.1038/s41436-019-0595-x
- Szenker-Ravi E; Umut Altunoglu; Leushacke M; Bosso-Lefèvre C; Khatoo M; Thi Tran H; Thomas Naert; et al. "Author Correction:
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.". Nature (2018): https://doi.org/10.1038/s41586-018-0296-7.
10.1038/s41586-018-0296-7
- Dale Bryant; Liu Y; Datta S; Hariri H; Seda M; Anderson G; Emma Peskett; et al. "SNX14 mutations affect endoplasmic reticulum-associated
neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.". Human molecular genetics (2018): https://europepmc.org/articles/PMC5961352.
10.1093/hmg/ddy101
- Emmanuelle SZENKER-RAVI; Umut Altunoglu; Leushacke M; Célia Bosso-Lefèvre; Khatoo M; Thi Tran H; Thomas Naert; et al. "RSPO2
inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.". Nature (2018): https://doi.org/10.1038/s41586-018-0118-y.
10.1038/s41586-018-0118-y
- Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita;
et al. "Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in
Humans and Mice". PLoS genetics (2018): https://europepmc.org/articles/PMC6306194.
10.1371/journal.pgen.1007866
- Sentchordi-Montané, Lucía; Aza-Carmona, Miriam; Benito-Sanz, Sara; Barreda-Bonis, Ana C; Sánchez-Garre, Consuelo; Prieto-Matos,
Pablo; Ruiz-Ocaña, Pablo; et al. "Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description
of 16 probands and a review of the literature". Clinical endocrinology (2018): http://rihuc.huc.min-saude.pt/bitstream/10400.4/2197/1/Heterozygous%20aggrecan%20variants%20are%20associated%20with%20short.pdf.
10.1111/cen.13581
- Piard, Juliette; Lespinasse, James; Vlckova, Marketa; Mensah, Martin A; Iurian, Sorin; Simandlova, Martina; Malikova, Marcela;
et al. "Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1". American journal of medical genetics.
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10.1002/ajmg.a.38604
- Oud MM; Tuijnenburg P; Hempel M; van Vlies N; Ren Z; Sacha Ferdinandusse; Jansen MH; et al. "Mutations in EXTL3 Cause Neuro-immuno-skeletal
Dysplasia Syndrome.". American journal of human genetics (2017): https://europepmc.org/articles/PMC5294674.
10.1016/j.ajhg.2017.01.013
- Ghosh, Somadri; Huber, Céline; Siour, Quentin; Sousa, Sérgio B; Wright, Michael; Cormier-Daire, Valérie; Erneux, Christophe.
"Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects". Human
mutation (2017): https://doi.org/10.1002/humu.23321.
10.1002/humu.23321
- Sousa, Sérgio B; Ramos, Fabiana; Garcia, Paula; Pais, Rui P; Paiva, Catarina; Beales, Philip L; Moore, Gudrun E; Saraiva,
Jorge M; Hennekam, Raoul C M. "Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two
sisters". American journal of medical genetics. Part A (2014): http://rihuc.huc.min-saude.pt/bitstream/10400.4/1925/1/Sousa%20et%20al%20%20AJMG%202013.pdf.
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- Sousa, Sérgio B; Hennekam, Raoul C; Nicolaides-Baraitser Syndrome International Consortium. "Phenotype and genotype in Nicolaides-Baraitser
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"Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome". Nature genetics
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of medical genetics. Part A (2013): http://rihuc.huc.min-saude.pt/bitstream/10400.4/1589/1/AJMG.pdf.
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