Ana Carolina Pinheiro da Silva

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Karimi K; Weis D; Aukrust I; Hsieh TC; Horackova M; Paulsen J; Roberto Mendoza-Londono; et al, European journal of human genetics : EJHG. 2024. https://doi.org/10.1038/s41431-024-01702-y . 10.1038/s41431-024-01702-y . European journal of human genetics : EJHG

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

Sarli C; van der Laan L; Reilly J; Trajkova S; Carli D; Brusco A; Levy MA; et al, American journal of medical genetics. Part C, Seminars in medical genetics. 2024. http://europepmc.org/abstract/med/38884529 . 10.1002/ajmg.c.32089 . American journal of medical genetics. Part C, Seminars in medical genetics

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases

Díaz-González, Francisca; Parrón-Pajares, Manuel; Lucas-Castro, Elsa; Modamio-Høybjør, Silvia; Sentchordi-Montané, Lucia; Seidel, Verónica; Prieto, Pablo; et al, Clinical genetics. 2023. https://doi.org/10.1111/cge.14351 . 10.1111/cge.14351 . Clinical genetics

Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters

Sousa, Marlene; Prata, Ana Rita; Maduro, Ana Isabel; Sousa, Sérgio B; Malcata, Armando, Joint bone spine. 2023. https://doi.org/10.1016/j.jbspin.2023.105547 . 10.1016/j.jbspin.2023.105547 . Joint bone spine

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

Awamleh, Zain; Choufani, Sanaa; Cytrynbaum, Cheryl; Alkuraya, Fowzan S; Scherer, Stephen; Fernandes, Sofia; Rosas, Catarina; et al, Human molecular genetics. 2023. https://europepmc.org/articles/PMC10117159 . 10.1093/hmg/ddac289 . Human molecular genetics

Fibrodysplasia ossificans progressiva: when a double skeleton is present

Maduro, Ana Isabel; Mendes, Beatriz; Saraiva, André Pinto; Sousa, Marlene; Marques, Marta; B Sousa, Sérgio; Salvador, Maria João; Malcata, Armando; Serra, Sara, Clinical rheumatology. 2023. https://link.springer.com/content/pdf/10.1007/s10067-023-06712-7.pdf . 10.1007/s10067-023-06712-7 . Clinical rheumatology

Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial

Savarirayan, Ravi; Hoernschemeyer, Daniel G; Ljungberg, Merete; Zarate, Yuri A; Bacino, Carlos A; Bober, Michael B; Legare, Janet M; et al, EClinicalMedicine. 2023. https://europepmc.org/articles/PMC10562841 . 10.1016/j.eclinm.2023.102258 . EClinicalMedicine

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

Irving, Melita; AlSayed, Moeenaldeen; Arundel, Paul; Baujat, Geneviève; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valérie; et al, Orphanet journal of rare diseases. 2023. https://europepmc.org/articles/PMC10375694 . 10.1186/s13023-023-02795-2 . Orphanet journal of rare diseases

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; et al, American journal of human genetics. 2023. https://europepmc.org/articles/PMC10257005 . 10.1016/j.ajhg.2023.04.008 . American journal of human genetics

Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.

Travessa AM; Dias P; Rosmaninho-Salgado J; Aza-Carmona M; Moldovan O; Díaz-González F; Godinho F; et al, European journal of medical genetics. 2023. http://europepmc.org/abstract/med/37839784 . 10.1016/j.ejmg.2023.104867 . European journal of medical genetics

Congenital cutaneous ossification

Gomes, Tiago Fernandes; Kieselová, Katarina; Santiago, Felicidade; Cardoso, José C; Cunha, Fernanda; Sousa, Sérgio B; Perez de Nanclares, Guiomar, Journal of paediatrics and child health. 2022. https://doi.org/10.1111/jpc.15814 . 10.1111/jpc.15814 . Journal of paediatrics and child health

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Kumble, Smitha; Levy, Amanda M; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J; et al, Human mutation. 2022. https://findresearcher.sdu.dk/ws/files/196826433/humu.24308.pdf . 10.1002/humu.24308 . Human mutation

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

Cormier-Daire, Valerie; AlSayed, Moeenaldeen; Alves, Inês; Bengoa, Joana; Ben-Omran, Tawfeg; Boero, Silvio; Fredwall, Svein; et al, Orphanet journal of rare diseases. 2022. https://europepmc.org/articles/PMC9327303 . 10.1186/s13023-022-02442-2 . Orphanet journal of rare diseases

Optimising care and follow-up of adults with achondroplasia

Fredwall, Svein; Allum, Yana; AlSayed, Moeenaldeen; Alves, Inês; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; et al, Orphanet journal of rare diseases. 2022. https://europepmc.org/articles/PMC9392284 . 10.1186/s13023-022-02479-3 . Orphanet journal of rare diseases

Albright's hereditary osteodystrophy: an entity to recognize

Maduro, Ana Isabel; Pinto Saraiva, André; Pimenta Rodrigues, Orlando; Marques, Marta; B Sousa, Sérgio; Malcata, Armando; Perez de Nanclares, Guiomar; Serra, Sara, Rheumatology (Oxford, England). 2022. https://doi.org/10.1093/rheumatology/keac277 . 10.1093/rheumatology/keac277 . Rheumatology (Oxford, England)

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Calame, Daniel G; Herman, Isabella; Maroofian, Reza; Marshall, Aren E; Donis, Karina Carvalho; Fatih, Jawid M; Mitani, Tadahiro; et al, Annals of neurology. 2022. https://europepmc.org/articles/PMC10054521 . 10.1002/ana.26381 . Annals of neurology

Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic <i>CYP27B1</i> Variant Frequent in the African Population.

Joana de Brito Chagas; Cordinhã C; do Carmo C; Cristina Alves; Karen E. Heath; Sousa SB; Gomes C, Journal of pediatric genetics. 2021. https://europepmc.org/articles/PMC10984714 . 10.1055/s-0041-1736559 . Journal of pediatric genetics

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)

Carminho-Rodrigues, Maria Teresa; Steel, Dora; Sousa, Sergio B; Brandt, Gregor; Guipponi, Michel; Laurent, Sacha; Fokstuen, Siv; et al, American journal of medical genetics. Part A. 2020. https://discovery.ucl.ac.uk/id/eprint/10111337/ . 10.1002/ajmg.a.61731 . American journal of medical genetics. Part A

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

Cappuccio, Gerarda; Sayou, Camille; Tanno, Pauline Le; Tisserant, Emilie; Bruel, Ange-Line; Kennani, Sara El; Sá, Joaquim; et al, 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 . Genetics in medicine : official journal of the American College of Medical Genetics

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene

Peter, Virginie G; Quinodoz, Mathieu; Pinto-Basto, Jorge; Sousa, Sergio B; Di Gioia, Silvio Alessandro; Soares, Gabriela; Ferraz Leal, Gabriela; et al, Genetics in medicine : official journal of the American College of Medical Genetics. 2019. https://europepmc.org/articles/PMC6892740 . 10.1038/s41436-019-0595-x . Genetics in medicine : official journal of the American College of Medical Genetics

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.

Emmanuelle SZENKER-RAVI; Umut Altunoglu; Leushacke M; Célia Bosso-Lefèvre; Khatoo M; Thi Tran H; Thomas Naert; et al, Nature. 2018. https://doi.org/10.1038/s41586-018-0118-y . 10.1038/s41586-018-0118-y . Nature

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

Piard, Juliette; Lespinasse, James; Vlckova, Marketa; Mensah, Martin A; Iurian, Sorin; Simandlova, Martina; Malikova, Marcela; et al, American journal of medical genetics. Part A. 2018. https://europepmc.org/articles/PMC5838527 . 10.1002/ajmg.a.38604 . American journal of medical genetics. Part A

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

Sentchordi-Montané, Lucía; Aza-Carmona, Miriam; Benito-Sanz, Sara; Barreda-Bonis, Ana C; Sánchez-Garre, Consuelo; Prieto-Matos, Pablo; Ruiz-Ocaña, Pablo; et al, 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 . Clinical endocrinology

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; et al, PLoS genetics. 2018. https://europepmc.org/articles/PMC6306194 . 10.1371/journal.pgen.1007866 . PLoS genetics

Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.

Szenker-Ravi E; Umut Altunoglu; Leushacke M; Bosso-Lefèvre C; Khatoo M; Thi Tran H; Thomas Naert; et al, Nature. 2018. https://doi.org/10.1038/s41586-018-0296-7 . 10.1038/s41586-018-0296-7 . Nature

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.

Dale Bryant; Liu Y; Datta S; Hariri H; Seda M; Anderson G; Emma Peskett; et al, Human molecular genetics. 2018. https://europepmc.org/articles/PMC5961352 . 10.1093/hmg/ddy101 . Human molecular genetics

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Oud MM; Tuijnenburg P; Hempel M; van Vlies N; Ren Z; Sacha Ferdinandusse; Jansen MH; et al, American journal of human genetics. 2017. https://europepmc.org/articles/PMC5294674 . 10.1016/j.ajhg.2017.01.013 . American journal of human genetics

Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects

Ghosh, Somadri; Huber, Céline; Siour, Quentin; Sousa, Sérgio B; Wright, Michael; Cormier-Daire, Valérie; Erneux, Christophe, Human mutation. 2017. https://doi.org/10.1002/humu.23321 . 10.1002/humu.23321 . Human mutation

Phenotype and genotype in Nicolaides-Baraitser syndrome

Sousa, Sérgio B; Hennekam, Raoul C; Nicolaides-Baraitser Syndrome International Consortium, American journal of medical genetics. Part C, Seminars in medical genetics. 2014. https://doi.org/10.1002/ajmg.c.31409 . 10.1002/ajmg.c.31409 . American journal of medical genetics. Part C, Seminars in medical genetics

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Sousa, Sérgio B; Jenkins, Dagan; Chanudet, Estelle; Tasseva, Guergana; Ishida, Miho; Anderson, Glenn; Docker, James; et al, Nature genetics. 2014. http://rihuc.huc.min-saude.pt/bitstream/10400.4/1596/1/ng.2829.pdf . 10.1038/ng.2829 . Nature genetics

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

Thomas, Anna C; Williams, Hywel; Setó-Salvia, Núria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; et al, American journal of human genetics. 2014. https://europepmc.org/articles/PMC4225633 . 10.1016/j.ajhg.2014.10.007 . American journal of human genetics

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

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, 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 . 10.1002/ajmg.a.36235 . American journal of medical genetics. Part A

Intellectual disability, unusual facial morphology and hand anomalies in sibs

Sousa, Sérgio B; Venâncio, Margarida; Chanudet, Estelle; Palmer, Rodger; Ramos, Lina; Beales, Philip L; Moore, Gudrun E; Saraiva, Jorge M; Hennekam, Raoul C, American journal of medical genetics. Part A. 2013. http://rihuc.huc.min-saude.pt/bitstream/10400.4/1589/1/AJMG.pdf . 10.1002/ajmg.a.36124 . American journal of medical genetics. Part A

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Van Houdt, Jeroen K J; Nowakowska, Beata Anna; Sousa, Sérgio B; van Schaik, Barbera D C; Seuntjens, Eve; Avonce, Nelson; Sifrim, Alejandro; et al, Nature genetics. 2012. https://doi.org/10.1038/ng.1105 . 10.1038/ng.1105 . Nature genetics

Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome

Beleza-Meireles, Ana; Cerqueira, Rita; Sousa, Sérgio B; Palmeiro, Aida; Ramos, Lina, European journal of medical genetics. 2011. https://doi.org/10.1016/j.ejmg.2011.02.010 . 10.1016/j.ejmg.2011.02.010 . European journal of medical genetics

Expanding the skeletal phenotype of Loeys-Dietz syndrome

Sousa, Sérgio B; Lambot-Juhan, Karen; Rio, Marlène; Baujat, Geneviève; Topouchian, Vicken; Hanna, Nadine; Le Merrer, Martine; et al, American journal of medical genetics. Part A. 2011. https://doi.org/10.1002/ajmg.a.33813 . 10.1002/ajmg.a.33813 . American journal of medical genetics. Part A

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; et al, PLoS genetics. 2011. https://europepmc.org/articles/PMC3131273 . 10.1371/journal.pgen.1002114 . PLoS genetics

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Margot Bowen; Boyden ED; Ingrid Holm; Belinda Campos-Xavier; Bonafé L; Superti-Furga A; Ikegawa S; et al, PLoS genetics. 2011. https://europepmc.org/articles/PMC3077396 . 10.1371/journal.pgen.1002050 . PLoS genetics

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?

Sousa, Sérgio B; Baujat, Geneviéve; Abadie, Véronique; Bonnet, Damien; Sidi, Daniel; Munnich, Arnold; Krakow, Deborah; Cormier-Daire, Valérie, American journal of medical genetics. Part A. 2010. https://doi.org/10.1002/ajmg.a.33277 . 10.1002/ajmg.a.33277 . American journal of medical genetics. Part A

Skeletal complications in mucopolysaccharidosis VI patients: Case reports

Garcia, Paula; Sousa, Sérgio B; Ling, Tah Pu; Conceição, Mário; Seabra, Jorge; White, Klane K; Diogo, Luisa, Journal of pediatric rehabilitation medicine. 2010. https://content.iospress.com:443/download/journal-of-pediatric-rehabilitation-medicine/prm00108?id=journal-of-pediatric-rehabilitation-medicine%2Fprm00108 . 10.3233/prm-2010-0108 . Journal of pediatric rehabilitation medicine

Nicolaides-Baraitser syndrome: Delineation of the phenotype

Sousa, Sérgio B; Abdul-Rahman, Omar A; Bottani, Armand; Cormier-Daire, Valérie; Fryer, Alan; Gillessen-Kaesbach, Gabriele; Horn, Denise; et al, American journal of medical genetics. Part A. 2009. https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.32956 . 10.1002/ajmg.a.32956 . American journal of medical genetics. Part A

Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.

Maria Almeida; Belinda Campos-Xavier; Medeira A; Cordeiro I; Sousa AB; Lima M; Soares G; et al, Clinical genetics. 2009. https://doi.org/10.1111/j.1399-0004.2008.01123.x . 10.1111/j.1399-0004.2008.01123.x . Clinical genetics

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

Sousa, Sérgio B; Russell-Eggitt, Isabelle; Hall, Christine; Hall, Bryan D; Hennekam, Raoul C M, American journal of medical genetics. Part A. 2008. https://doi.org/10.1002/ajmg.a.32576 . 10.1002/ajmg.a.32576 . American journal of medical genetics. Part A

Tetra-amelia and lung hypo/aplasia syndrome: new case report and review

Sousa, Sérgio B; Pina, Raquel; Ramos, Lina; Pereira, Naigel; Krahn, Martin; Borozdin, Wiktor; Kohlhase, Jürgen; et al, American journal of medical genetics. Part A. 2008. https://estudogeral.sib.uc.pt/bitstream/10316/8440/1/obra.pdf . 10.1002/ajmg.a.32489 . American journal of medical genetics. Part A

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Christiane Zweier; Peippo MM; Hoyer J; Sousa S; Bottani A; Clayton-Smith J; Willie Reardon; et al, American journal of human genetics. 2007. https://europepmc.org/articles/PMC1852727 . 10.1086/515583 . American journal of human genetics