Kennedy Krieger Institute

University / College

Location: Baltimore, United States (USA) (US)

ISNI: 000000040427667X

ROR: https://ror.org/05q6tgt32

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Publications

(8)

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. (2024) Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, et al. Journal article BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024) Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al. Journal article Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss (2021) Richard EM, Bakhtiari S, Marsh AP, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, et al. Journal article Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability (2020) Asadollahi R, Boonsawat P, Popp B, Torti E, Bader I, Vitobello A, Moutton S, et al. Conference contribution De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al. Journal article Loss-of-function variants in HIVEP2 are a cause of intellectual disability (2016) Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, et al. Journal article WONOEP appraisal: new genetic approaches to study epilepsy (2014) Rossignol E, Kobow K, Simonato M, Loeb JA, Grisar T, Gilby KL, Vinet J, et al. Journal article Toward discovery science of human brain function (2010) Biswal BB, Mennes M, Zuo XN, Gohel S, Kelly C, Smith SM, Beckmann CF, et al. Journal article