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Role of CAMK2D in neurodevelopment and associated conditions.

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease.

Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart Disease.

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

Denommé-Pichon, Anne-Sophie; Collins, Stephan C; Bruel, Ange-Line; Mikhaleva, Anna; Wagner, Christel; Vancollie, Valerie E; Thomas, Quentin; Chevarin, Martin; Weber, Mathys; Prada, Carlos E; Overs, Alexis; Palomares-Bralo, María; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Busa, Tiffany; Legius, Eric; Bacino, Carlos A; Rosenfeld, Jill A; Le Guyader, Gwenaël; Egloff, Matthieu; Le Guillou, Xavier; Mencarelli, Maria Antonietta; Renieri, Alessandra; Grosso, Salvatore; Levy, Jonathan; Dozières, Blandine; Desguerre, Isabelle; Vitobello, Antonio; Duffourd, Yannis; Lelliott, Christopher J; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence; Yalcin, Binnaz

Motor Function and Physiology in Youth With Neurofibromatosis Type 1.

Doherty, Alexander C; Huddleston, David A; Horn, Paul S; Ratner, Nancy; Simpson, Brittany N; Schorry, Elizabeth K; Aschbacher-Smith, Lindsey; Prada, Carlos E; Gilbert, Donald L

Early allograft dysfunction in a pediatric liver allograft with an occult pathogenic mutation in the urea cycle.

Rezvani, Milad; Campbell, Kathleen M; Prada, Carlos E; Peters, Anna L

The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children.

Simpson, Brittany N; Mejía Sang, Miguel E; Collado Puello, Yonairy; Diaz Brockmans, Elvira J; Díaz Soto, María F; Rivera Defilló, Stephanie M; Taveras Cruz, Karla M; Santiago Pérez, Javier O; Husami, Ammar; Day, Melissa E; Pilipenko, Valentina; Mena, Rafael; Mota, Cesár; Hostetter, Margaret K; Muglia, Louis J; Schlaudecker, Elizabeth; Gonzalez Del Rey, Javier; Martin, Lisa J; Prada, Carlos E

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Ramond, Francis; Dalgliesh, Caroline; Grimmel, Mona; Wechsberg, Oded; Vetro, Annalisa; Guerrini, Renzo; FitzPatrick, David; Poole, Rebecca L; Lebrun, Marine; Bayat, Allan; Grasshoff, Ute; Bertrand, Miriam; Witt, Dennis; Turnpenny, Peter D; Faundes, Víctor; Santa María, Lorena; Mendoza Fuentes, Carolina; Mabe, Paulina; Hussain, Shaun A; Mullegama, Sureni V; Torti, Erin; Oehl-Jaschkowitz, Barbara; Salmon, Lina Basel; Orenstein, Naama; Shahar, Noa Ruhrman; Hagari, Ofir; Bazak, Lily; Hoffjan, Sabine; Prada, Carlos E; Haack, Tobias; Elliott, David J

First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B.