Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

Authors: Zonic, Emir, Ferreira, Mariana, Pardo, Luba M., Martini, Javier, Rocha, Maria Eugenia, Aanicai, Ruxandra, Ordonez-Herrera, Natalia, Saravanakumar, Deepa, Almeida, Ligia S., Fernandes, Inês C., Gulati, Nishtha, Mannepalli, Sumanth, Hercegovac, Amela, Al-Ali, Ruslan, Pereira, Catarina, Paknia, Omid, Hladnik, Uros, Bauer, Peter, Pinto Basto, Jorge, Bertoli-Avella, Aida M.

Source: In Genetics in Medicine Open 2023 1(1)

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

Authors: Thomas, Quentin, Motta, Marialetizia, Gautier, Thierry, Zaki, Maha S., Ciolfi, Andrea, Paccaud, Julien, Girodon, François, Boespflug-Tanguy, Odile, Besnard, Thomas, Kerkhof, Jennifer, McConkey, Haley, Masson, Aymeric, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Trochu, Eva, Vignard, Virginie, El It, Fatima, Rodan, Lance H., Alkhateeb, Mohammad Ayman, Jamra, Rami Abou, Duplomb, Laurence, Tisserant, Emilie, Duffourd, Yannis, Bruel, Ange-Line, Jackson, Adam, Banka, Siddharth, McEntagart, Meriel, Saggar, Anand, Gleeson, Joseph G., Sievert, David, Bae, Hyunwoo, Lee, Beom Hee, Kwon, Kisang, Seo, Go Hun, Lee, Hane, Saeed, Anjum, Anjum, Nadeem, Cheema, Huma, Alawbathani, Salem, Khan, Imran, Pinto-Basto, Jorge, Teoh, Joyce, Wong, Jasmine, Sahari, Umar Bin Mohamad, Houlden, Henry, Zhelcheska, Kristina, Pannetier, Melanie, Awad, Mona A., Lesieur-Sebellin, Marion, Barcia, Giulia, Amiel, Jeanne, Delanne, Julian, Philippe, Christophe, Faivre, Laurence, Odent, Sylvie, Bertoli-Avella, Aida, Thauvin, Christel, Sadikovic, Bekim, Reversade, Bruno, Maroofian, Reza, Govin, Jérôme, Tartaglia, Marco, Vitobello, Antonio

Source: American journal of human genetics. 109(10):1909-1922

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172905113.0x000001&indx=1&recIds=ETOCvdc_100172905113.0x000001

Heterozygous variants in SPTBN1 cause intellectual disability and autism

Authors: Rosenfeld, Jill A., Xiao, Rui, Bekheirnia, Mir Reza, Kanani, Farah, Parker, Michael J., Koenig, Mary K., Haeringen, Arie, Ruivenkamp, Claudia, Rosmaninho‐Salgado, Joana, Almeida, Pedro M., Sá, Joaquim, Pinto Basto, Jorge, Palen, Emily, Oetjens, Kathryn F., Burrage, Lindsay C., Xia, Fan, Liu, Pengfei, Eng, Christine M., Yang, Yaping, Posey, Jennifer E., Lee, Brendan H.

Source: American journal of medical genetics.Part A. 185(7):2037-2045

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122551849.0x000001&indx=1&recIds=ETOCvdc_100122551849.0x000001

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

Authors: Peter, Virginie G., Quinodoz, Mathieu, Pinto-Basto, Jorge, Sousa, Sergio B., Di Gioia, Silvio Alessandro, Soares, Gabriela, Ferraz Leal, Gabriela, Silva, Eduardo D., Pescini Gobert, Rosanna, Miyake, Noriko, Matsumoto, Naomichi, Engle, Elizabeth C., Unger, Sheila, Shapiro, Frederic, Superti-Furga, Andrea, Rivolta, Carlo, Campos-Xavier, Belinda

Source: In Genetics in Medicine December 2019 21(12):2734-2743

A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46, XX sisters

Authors: Espinosa-Herrera, Fernando, Espín, Estefanía, Tito-Álvarez, Ana M., Beltrán, Leonardo-J, Gómez-Correa, Diego, Burgos, German, Llamos, Arianne, Zurita, Camilo, Rojas, Samantha, Dueñas-Espín, Iván, Cueva-Ludeña, Kenny, Salazar-Vega, Jorge, Pinto-Basto, Jorge

Source: Gynecological endocrinology. 36(1):24-29

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100099443904.0x000001&indx=1&recIds=ETOCvdc_100099443904.0x000001

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

Authors: Peter, Virginie G., Quinodoz, Mathieu, Pinto-Basto, Jorge, Sousa, Sergio B., Di Gioia, Silvio Alessandro, Soares, Gabriela, Ferraz Leal, Gabriela, Silva, Eduardo D., Pescini Gobert, Rosanna, Miyake, Noriko, Matsumoto, Naomichi, Engle, Elizabeth C., Unger, Sheila, Shapiro, Frederic, Superti-Furga, Andrea, Rivolta, Carlo, Campos-Xavier, Belinda

Source: Genetics in medicine. 21(12):2734-2743

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193230390.0x000001&indx=1&recIds=ETOCvdc_100193230390.0x000001

Genomic imbalances defining novel intellectual disability associated loci

Authors: Lopes, Fátima, Torres, Fátima, Soares, Gabriela, Barbosa, Mafalda, Silva, João, Duque, Frederico, Rocha, Miguel, Sá, Joaquim, Oliveira, Guiomar, Sá, Maria, Temudo, Teresa, Sousa, Susana, Marques, Carla, Lopes, Sofia, Gomes, Catarina, Barros, Gisela, Jorge, Arminda, Rocha, Felisbela, Martins, Cecília, Mesquita, Sandra, Loureiro, Susana, Cardoso, Elisa, Cálix, Maria, Dias, Andreia, Martins, Cristina, Mota, Céu, Antunes, Diana, Dupont, Juliette, Figueiredo, Sara, Figueiroa, Sónia, Gama-de-Sousa, Susana, Cruz, Sara, Sampaio, Adriana, Eijk, Paul, Weiss, Marjan, Ylstra, Bauke, Rendeiro, Paula, Tavares, Purificação, Reis-Lima, Margarida, Pinto-Basto, Jorge, Fortuna, Ana, Maciel, Patrícia

Source: Orphanet journal of rare diseases. 14(1):1-13

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100189176765.0x000001&indx=1&recIds=ETOCvdc_100189176765.0x000001

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P614: The clinical genome: Validation data beyond clinical exome

Authors: Tripolszki, Kornelia, Bilinski, Melina, Bieg, Matthias, Marais, Anett, Pereira, Catarina, Martini, Javier, Sadagopan, Mukunth, Fondzenyuy, Divine Lawir, Chinnappa, Swathi, Weissgraeber, Stephanie, Hackenberg, Thomas, Junghans, Chris, Numrich, Johannes, Kandaswamy, Krishna Kumar, Pinto-Basto, Jorge, Bauer, Peter, Paknia, Omid

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Epileptic Encephalopathy in Adams–Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype

Authors: Pisciotta, Livia, Capra, Valeria, Accogli, Andrea, Giacomini, Thea, Prato, Giulia, Tavares, Purificação, Pinto-Basto, Jorge, Morana, Giovanni, Mancardi, Maria

Source: Neuropediatrics. 49(3):217-221

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183882401.0x000001&indx=1&recIds=ETOCvdc_100183882401.0x000001

P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita

Authors: Tripolszki, Kornelia, Martini, Javier, Kampe, Kapil, Karageorgou, Vasiliki, Almuhaizea, Mohamed, Pereira, Catarina, Weissgraeber, Stephanie, Paknia, Omid, Pinto-Basto, Jorge, Bauer, Peter

Source: In Genetics in Medicine Open 2023 1(1) Supplement

P427: Beyond genomics: Using RNA-seq in filter cards to unlock the clinical relevance of noncoding variation in splicing

Authors: Al-Ali, Ruslan, Radefeldt, Mandy, Lemke, Sabrina, Pinto-Basto, Jorge, Bauer, Peter

Source: In Genetics in Medicine Open 2023 1(1) Supplement

Refractory epilepsy in Norrie disease

Authors: Cação, Gonçalo, Garrido, Cristina, Miranda, Vasco, Pinto-Basto, Jorge, Chaves, João, Chorão, Rui

Source: Neurological sciences. 39(9):1631-1633

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100126307984.0x000001&indx=1&recIds=ETOCvdc_100126307984.0x000001

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

Authors: Pereira, Maria Conceição, Loureiro, José Leal, Pinto-Basto, Jorge, Brandão, Eva, Lopes, Ana Margarida, Neves, Georgina, Dias, Pureza, Geraldes, Ruth, Martins, Isabel Pavão, Cruz, Vitor Tedim, Kamsteeg, Erik-Jan, Brunner, Han G., Coutinho, Paula, Sequeiros, Jorge, Alonso, Isabel

Source: In Genetics in Medicine January 2012 14(1):143-151

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Authors: Guatibonza Moreno, Pilar, Pardo, Luba M., Pereira, Catarina, Schroeder, Sabine, Vagiri, Deepthi, Almeida, Ligia S., Juaristi, Carlos, Hosny, Heba, Loh, Clarice C. Y., Leubauer, Anika, Torres Morales, Galina, Oppermann, Sebastian, Iurașcu, Marius-Ionuț, Fischer, Steffen, Steinicke, Tara-Marisa, Viceconte, Nikenza, Cozma, Claudia, Kandaswamy, Krishna Kumar, Pinto Basto, Jorge, Böttcher, Tobias, Bauer, Peter, Bertoli-Avella, Aida

Source: European Journal of Human Genetics: EJHG; October 2023, Vol. 31 Issue: 10 p1108-1116, 9p

Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families

Authors: Negrão, Luís, Almendra, Luciano, Ribeiro, Joana, Matos, Anabela, Geraldo, Argemiro, Pinto-Basto, Jorge

Source: Acta myologica. 33(3):144-148

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN600477650&indx=1&recIds=ETOCRN600477650

Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?

Authors: Oliveira, Hugo M., Pereira, Cláudia, Santos Silva, Ermelinda, Pinto-Basto, Jorge, Pessegueiro Miranda, Helena

Source: Digestive and liver disease. 48(2):203-205

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100031157623.0x000001&indx=1&recIds=ETOCvdc_100031157623.0x000001

Inherited and acquired risk factors and their combined effects in pediatric stroke

Authors: Barreirinho, Sameiro, Ferro, Anabela, Santos, Manuela, Costa, E.lísio, Pinto-Basto, Jorge, Sousa, Alda, Sequeiros, Jorge, Maciel, Patricia, Barbot, Clara, Barbot, José

Source: In Pediatric Neurology 2003 28(2):134-138

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

Authors: Coutinho Paula, Pinto-Basto Jorge, Fortuna Ana M, Alonso Isabel, Santos Rosário, Marques Isabel, Jorge Paula, Vale José, Seixas Ana I, Margolis Russell L, Sequeiros Jorge, Silveira Isabel

Source: Behavioral and Brain Functions, Vol 7, Iss 1, p 19 (2011)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.behavioralandbrainfunctions.com/content/7/1/19; https://doaj.org/toc/1744-9081

Access URL: https://doaj.org/article/84b7761f349e493f94684f9751b7a011

Adult polyglucosan body disease—an atypical compound heterozygous with a novel GBE1 mutation.

Authors: Carvalho, Andreia, Nunes, Joana, Taipa, Ricardo, Melo Pires, Manuel, Pinto Basto, Jorge, Barros, Pedro

Source: Neurological Sciences; Jul2021, Vol. 42 Issue 7, p2955-2959, 5p, 1 Color Photograph, 1 Black and White Photograph, 1 Chart

Subject Terms: DYSAUTONOMIA, NEUROGENIC bladder, LEUKODYSTROPHY, PHENOTYPES, PERIPHERAL neuropathy, ORTHOSTATIC hypotension