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Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly
Karjosukarso, Dyah W., Cremers, Frans P. M., van Nouhuys, C. Erik, Collin, Rob W. J.
Published in European journal of human genetics : EJHG (01.12.2018)
Published in European journal of human genetics : EJHG (01.12.2018)
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The association between Zika virus infection and microcephaly in Brazil 2015–2017: An observational analysis of over 4 million births
Brady, Oliver J., Osgood-Zimmerman, Aaron, Kassebaum, Nicholas J., Ray, Sarah E., de Araújo, Valdelaine E. M., da Nóbrega, Aglaêr A., Frutuoso, Livia C. V., Lecca, Roberto C. R., Stevens, Antony, Zoca de Oliveira, Bruno, de Lima, José M., Bogoch, Isaac I., Mayaud, Philippe, Jaenisch, Thomas, Mokdad, Ali H., Murray, Christopher J. L., Hay, Simon I., Reiner, Robert C., Marinho, Fatima
Published in PLoS medicine (05.03.2019)
Published in PLoS medicine (05.03.2019)
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Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome
Li, Jingling, Brickler, Thomas, Banuelos, Allison, Marjon, Kristopher, Shcherbina, Anna, Banerjee, Sravani, Bian, Jing, Narayanan, Cyndhavi, Weissman, Irving L., Chetty, Sundari
Published in Proceedings of the National Academy of Sciences - PNAS (13.04.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (13.04.2021)
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Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype
Pasquetti, Domizia, L'Erario, Federica Francesca, Marangi, Giuseppe, Panfili, Arianna, Chiurazzi, Pietro, Sonnini, Elena, Orteschi, Daniela, Alfieri, Paolo, Morleo, Manuela, Nigro, Vincenzo, Zollino, Marcella
Published in Clinical genetics (01.01.2024)
Published in Clinical genetics (01.01.2024)
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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
Ji, Jianling, Lee, Hane, Argiropoulos, Bob, Dorrani, Naghmeh, Mann, John, Martinez-Agosto, Julian A, Gomez-Ospina, Natalia, Gallant, Natalie, Bernstein, Jonathan A, Hudgins, Louanne, Slattery, Leah, Isidor, Bertrand, Le Caignec, Cédric, David, Albert, Obersztyn, Ewa, Wiśniowiecka-Kowalnik, Barbara, Fox, Michelle, Deignan, Joshua L, Vilain, Eric, Hendricks, Emily, Horton Harr, Margaret, Noon, Sarah E, Jackson, Jessi R, Wilkens, Alisha, Mirzaa, Ghayda, Salamon, Noriko, Abramson, Jeff, Zackai, Elaine H, Krantz, Ian, Innes, A Micheil, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabiola
Published in European journal of human genetics : EJHG (01.11.2015)
Published in European journal of human genetics : EJHG (01.11.2015)
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Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
Fuke, Tomoko, Nakamura, Akie, Inoue, Takanobu, Kawashima, Sayaka, Hara, Kaori Isono, Matsubara, Keiko, Sano, Shinichiro, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo
Published in The journal of clinical endocrinology and metabolism (01.03.2021)
Published in The journal of clinical endocrinology and metabolism (01.03.2021)
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MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam
Published in Journal of medical genetics (01.05.2019)
Published in Journal of medical genetics (01.05.2019)
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El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
Almannai, Mohammed, Marafi, Dana, Abdel‐Salam, Ghada M. H., Zaki, Maha S., Duan, Ruizhi, Calame, Daniel, Herman, Isabella, Levesque, Felix, Elbendary, Hasnaa M., Hegazy, Ibrahim, Chung, Wendy K., Kavus, Haluk, Saeidi, Kolsoum, Maroofian, Reza, AlHashim, Aqeela, Al‐Otaibi, Ali, Al Madhi, Asma, Abou Al‐Seood, Hager M., Alasmari, Ali, Houlden, Henry, Gleeson, Joseph G., Hunter, Jill V., Posey, Jennifer E., Lupski, James R., El‐Hattab, Ayman W.
Published in Clinical genetics (01.05.2022)
Published in Clinical genetics (01.05.2022)
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Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure
Treit, Sarah, Zhou, Dongming, Chudley, Albert E., Andrew, Gail, Rasmussen, Carmen, Nikkel, Sarah M., Samdup, Dawa, Hanlon-Dearman, Ana, Loock, Christine, Beaulieu, Christian
Published in PloS one (29.02.2016)
Published in PloS one (29.02.2016)
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Meeting Report: WHO consultation on considerations for regulatory expectations of Zika virus vaccines for use during an emergency
Vannice, K.S., Giersing, B.K., Kaslow, D.C., Griffiths, E., Meyer, H., Barrett, A., Durbin, A.P., Wood, D., Hombach, J.
Published in Vaccine (28.11.2019)
Published in Vaccine (28.11.2019)
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Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations
Pavinato, Lisa, Carestiato, Silvia, Trajkova, Slavica, Sorasio, Lorena, Mantovani, Giovanna, De Sanctis, Luisa, Kerkhof, Jennifer, McConkey, Haley, Rzasa, Jessica, Todd, Emily, Balzo, Maria, Cardaropoli, Simona, Bruselles, Alessandro, De Rubeis, Silvia, Buxbaum, Joseph D., Tartaglia, Marco, Sadikovic, Bekim, Ferrero, Giovanni Battista, Brusco, Alfredo
Published in Clinical genetics (01.03.2025)
Published in Clinical genetics (01.03.2025)
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Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
Dentici, Maria Lisa, Alesi, Viola, Quinodoz, Mathieu, Robens, Barbara, Guerin, Andrea, Lebon, Sébastien, Poduri, Annapurna, Travaglini, Lorena, Graziola, Federica, Afenjar, Alexandra, Keren, Boris, Licursi, Valerio, Capuano, Alessandro, Dallapiccola, Bruno, Superti-Furga, Andrea, Novelli, Antonio
Published in Journal of medical genetics (01.03.2022)
Published in Journal of medical genetics (01.03.2022)
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Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
Burnside, Rachel D., Molinari, Sharon, Botti, Christina, Brooks, Susan Sklower, Chung, Wendy K., Mehta, Lakshmi, Schwartz, Stuart, Papenhausen, Peter
Published in American journal of medical genetics. Part A (01.09.2018)
Published in American journal of medical genetics. Part A (01.09.2018)
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Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Friedman, Jennifer, Smith, Desiree E., Issa, Mahmoud Y., Stanley, Valentina, Wang, Rengang, Mendes, Marisa I., Wright, Meredith S., Wigby, Kristen, Hildreth, Amber, Crawford, John R., Koehler, Alanna E., Chowdhury, Shimul, Nahas, Shareef, Zhai, Liting, Xu, Zhiwen, Lo, Wing-Sze, James, Kiely N., Musaev, Damir, Accogli, Andrea, Guerrero, Kether, Tran, Luan T., Omar, Tarek E. I., Ben-Omran, Tawfeg, Dimmock, David, Kingsmore, Stephen F., Salomons, Gajja S., Zaki, Maha S., Bernard, Geneviève, Gleeson, Joseph G.
Published in Nature communications (12.02.2019)
Published in Nature communications (12.02.2019)
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Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review
Romano, Ferruccio, Haanpää, Maria K., Pomianowski, Pawel, Peraino, Amanda Rose, Pollard, John R., Di Feo, Maria Francesca, Traverso, Monica, Severino, Mariasavina, Derchi, Maria, Henzen, Edoardo, Zara, Federico, Faravelli, Francesca, Capra, Valeria, Scala, Marcello
Published in American journal of medical genetics. Part A (01.06.2024)
Published in American journal of medical genetics. Part A (01.06.2024)
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Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
Di Candia, Francesca, Fontana, Paolo, Paglia, Pamela, Falco, Mariateresa, Rosano, Carmen, Piscopo, Carmelo, Cappuccio, Gerarda, Siano, Maria Anna, De Brasi, Daniele, Mandato, Claudia, De Maggio, Ilaria, Squeo, Gabriella Maria, Monica, Matteo Della, Scarano, Gioacchino, Lonardo, Fortunato, Strisciuglio, Pietro, Merla, Giuseppe, Melis, Daniela
Published in European journal of pediatrics (01.01.2022)
Published in European journal of pediatrics (01.01.2022)
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Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Maroofian, Reza, Sedmík, Jiří, Mazaheri, Neda, Scala, Marcello, Zaki, Maha S, Keegan, Liam P, Azizimalamiri, Reza, Issa, Mahmoud, Shariati, Gholamreza, Sedaghat, Alireza, Beetz, Christian, Bauer, Peter, Galehdari, Hamid, O’Connell, Mary A, Houlden, Henry
Published in Journal of medical genetics (01.07.2021)
Published in Journal of medical genetics (01.07.2021)
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