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

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Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration von Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik‐Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, De Marco, Patrizia, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T, Guzmán‐Vega, Francisco J, Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Boris, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl‐Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nicholas, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik‐Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan

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MYH1 is a candidate gene for recurrent rhabdomyolysis in humans von Alsaif, Hessa S., Alshehri, Ali, Sulaiman, Raashda A., Al‐Hindi, Hindi, Guzmán‐Vega, Francisco J., Arold, Stefan T., Alkuraya, Fowzan S.

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Discovery of the relativistic Schrödinger equation von Barley, K, Vega-Guzmán, J, Ruffing, A, Suslov, S K

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A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings von 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

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Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis von Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Guzmán-Vega, Francisco J, Arold, Stefan T, Pushparaj, Peter Natesan, Chaudhary, Adeel G, AlQahtani, Mohammad H

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

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Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy von Alsemari, Abdulaziz, Guzmán-Vega, Francisco J, Meyer, Brian F, Arold, Stefan T

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Leveraging AI Advances and Online Tools for Structure‐Based Variant Analysis von Guzmán‐Vega, Francisco J., González‐Álvarez, Ana C., Peña‐Guerra, Karla A., Cardona‐Londoño, Kelly J., Arold, Stefan T.

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Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia von Alghamdi, Malak, Alhumsi, Taghreed R., Altweijri, Ikhlass, Alkhamis, Waleed H., Barasain, Omar, Cardona-Londono, Kelly J., Ramakrishnan, Reshmi, Guzman-Vega, Francisco J., Arold, Stefan T., Ali, Ghaida, Adly, Nouran, Ali, Hebatallah, Basudan, Ahmed, Bakhrebah, Muhammed A.

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

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Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders von Bohlega, Saeed, Abusrair, Ali H., Al-Qahtani, Zainah, Guzmán-Vega, Francisco J., Ramakrishnan, Reshmi, Aldosari, Haya, Aldakheel, Amaal, Al-Qahtani, Salma, Monies, Dorota, Arold, Stefan T.

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

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Reconstructing the Schrödinger groups von López, R M, Suslov, S K, Vega-Guzmán, J M

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Protein function prediction as approximate semantic entailment von Kulmanov, Maxat, Guzmán-Vega, Francisco J., Duek Roggli, Paula, Lane, Lydie, Arold, Stefan T., Hoehndorf, Robert

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Interleukin-26 activates macrophages and facilitates killing of Mycobacterium tuberculosis von 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

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Optical solitons for the concatenation model with power-law nonlinearity: undetermined coefficients von Biswas, A, Vega Guzman, J, Yildirim, Y, Moshokoa, S, Aphane, M, Alghamdi, A

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Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures von Alsahli, Saud, Alfares, Ahmed, Guzmán-Vega, Francisco J., Arold, Stefan T., Ba-Armah, Duaa, Al Mutairi, Fuad

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Optical Soliton Perturbation in Nonlinear Directional Couplers von Vega-Guzman, J., Babatin, M.M., Biswas, A.

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

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