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

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Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease by Majed Dasouki, Ayodeele Alaiya, Tanziel ElAmin, Zakia Shinwari, Dorota Monies, Mohamed Abouelhoda, Amjad Jabaan, Feras Almourfi, Zuhair Rahbeeni, Fahad Alsohaibani, Fahad Almohareb, Hazzaa Al-Zahrani, Francisco J. Guzmán Vega, Stefan T. Arold, Mahmoud Aljurf, Syed Osman Ahmed

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

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An open-source, automated, and cost-effective platform for COVID-19 diagnosis and rapid portable genomic surveillance using nanopore sequencing by Gerardo Ramos-Mandujano, Raik Grünberg, Yingzi Zhang, Chongwei Bi, Francisco J. Guzmán-Vega, Muhammad Shuaib, Rodion V. Gorchakov, Jinna Xu, Muhammad Tehseen, Masateru Takahashi, Etsuko Takahashi, Ashraf Dada, Adeel Nazir Ahmad, Samir M. Hamdan, Arnab Pain, Stefan T. Arold, Mo Li

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SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures by Amjad Khan, Amjad Khan, Lucia Pia Bruno, Lucia Pia Bruno, Fadhel Alomar, Muhammad Umair, Muhammad Umair, Anna Maria Pinto, Abid Ali Khan, Alamzeb Khan, Saima, Alessandra Fabbiani, Alessandra Fabbiani, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Sara Resciniti, Sara Resciniti, Karla A. Peña-Guerra, Francisco J. Guzmán-Vega, Stefan T. Arold, Stefan T. Arold, Francesca Ariani, Francesca Ariani, Francesca Ariani, Shahid Niaz Khan

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The genome of the zoonotic malaria parasite Plasmodium simium reveals adaptations to host switching by Tobias Mourier, Denise Anete Madureira de Alvarenga, Abhinav Kaushik, Anielle de Pina-Costa, Olga Douvropoulou, Qingtian Guan, Francisco J. Guzmán-Vega, Sarah Forrester, Filipe Vieira Santos de Abreu, Cesare Bianco Júnior, Julio Cesar de Souza Junior, Silvia Bahadian Moreira, Zelinda Maria Braga Hirano, Alcides Pissinatti, Maria de Fátima Ferreira-da-Cruz, Ricardo Lourenço de Oliveira, Stefan T. Arold, Daniel C. Jeffares, Patrícia Brasil, Cristiana Ferreira Alves de Brito, Richard Culleton, Cláudio Tadeu Daniel-Ribeiro, Arnab Pain

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