Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

מאת Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Guzmán-Vega, Francisco J., Arold, Stefan T., Pushparaj, Peter Natesan, Chaudhary, Adeel G., AlQahtani, Mohammad H.
יצא לאור 2020

A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings

מאת Alghamdi, Malak Ali, Mulla, Jaazeel, Saheb Sharif-Askari, Narjes, Guzmán-Vega, Francisco J., Arold, Stefan T., Abd-Alwahed, Mervat, Alharbi, Nasser, Kashour, Tarek, Halwani, Rabih
יצא לאור 2021

Interleukin-26 activates macrophages and facilitates killing of Mycobacterium tuberculosis

מאת Hawerkamp, Heike C., van Geelen, Lasse, Korte, Jan, Di Domizio, Jeremy, Swidergall, Marc, Momin, Afaque A., Guzmán-Vega, Francisco J., Arold, Stefan T., Ernst, Joachim, Gilliet, Michel, Kalscheuer, Rainer, Homey, Bernhard, Meller, Stephan
יצא לאור 2020

Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia

מאת Alghamdi, Malak, Alhumsi, Taghreed R., Altweijri, Ikhlass, Alkhamis, Waleed H., Barasain, Omar, Cardona-Londoño, Kelly J., Ramakrishnan, Reshmi, Guzmán-Vega, Francisco J., Arold, Stefan T., Ali, Ghaida, Adly, Nouran, Ali, Hebatallah, Basudan, Ahmed, Bakhrebah, Muhammed A.
יצא לאור 2021

Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease

מאת Dasouki, Majed, Alaiya, Ayodeele, ElAmin, Tanziel, Shinwari, Zakia, Monies, Dorota, Abouelhoda, Mohamed, Jabaan, Amjad, Almourfi, Feras, Rahbeeni, Zuhair, Alsohaibani, Fahad, Almohareb, Fahad, Al-Zahrani, Hazzaa, Guzmán Vega, Francisco J., Arold, Stefan T., Aljurf, Mahmoud, Ahmed, Syed Osman
יצא לאור 2021

An open-source, automated, and cost-effective platform for COVID-19 diagnosis and rapid portable genomic surveillance using nanopore sequencing

מאת Ramos-Mandujano, Gerardo, Grünberg, Raik, Zhang, Yingzi, Bi, Chongwei, Guzmán-Vega, Francisco J., Shuaib, Muhammad, Gorchakov, Rodion V., Xu, Jinna, Tehseen, Muhammad, Takahashi, Masateru, Takahashi, Etsuko, Dada, Ashraf, Ahmad, Adeel Nazir, Hamdan, Samir M., Pain, Arnab, Arold, Stefan T., Li, Mo
יצא לאור 2023

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

מאת Khan, Amjad, Bruno, Lucia Pia, Alomar, Fadhel, Umair, Muhammad, Pinto, Anna Maria, Khan, Abid Ali, Khan, Alamzeb, Saima, Fabbiani, Alessandra, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Resciniti, Sara, Peña-Guerra, Karla A., Guzmán-Vega, Francisco J., Arold, Stefan T., Ariani, Francesca, Khan, Shahid Niaz
יצא לאור 2022

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

מאת Nahorski, Michael S, Maddirevula, Sateesh, Ishimura, Ryosuke, Alsahli, Saud, Brady, Angela F, Begemann, Anaïs, Mizushima, Tsunehiro, Guzmán-Vega, Francisco J, Obata, Miki, Ichimura, Yoshinobu, Alsaif, Hessa S, Anazi, Shams, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Alfadhel, Majid, Eyaid, Wafa, Zweier, Markus, Steindl, Katharina, Rauch, Anita, Arold, Stefan T, Woods, C Geoffrey, Komatsu, Masaaki, Alkuraya, Fowzan S
יצא לאור 2018

The genome of the zoonotic malaria parasite Plasmodium simium reveals adaptations to host switching

מאת Mourier, Tobias, de Alvarenga, Denise Anete Madureira, Kaushik, Abhinav, de Pina-Costa, Anielle, Douvropoulou, Olga, Guan, Qingtian, Guzmán-Vega, Francisco J., Forrester, Sarah, de Abreu, Filipe Vieira Santos, Júnior, Cesare Bianco, de Souza Junior, Julio Cesar, Moreira, Silvia Bahadian, Hirano, Zelinda Maria Braga, Pissinatti, Alcides, Ferreira-da-Cruz, Maria de Fátima, de Oliveira, Ricardo Lourenço, Arold, Stefan T., Jeffares, Daniel C., Brasil, Patrícia, de Brito, Cristiana Ferreira Alves, Culleton, Richard, Daniel-Ribeiro, Cláudio Tadeu, Pain, Arnab
יצא לאור 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

מאת Weerts, Marjolein J. A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A. L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M. P. C. D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R. Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B. A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., Barakat, Tahsin Stefan
יצא לאור 2021