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1. Computational genomics and genetics of developmental disorders

Qi, Hongjian
2018
Theses
BiometryGenomicsDevelopmental disabilities--Genetic aspects

2. De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Hiatt, Susan M.; Neu, Matthew B.; Ramaker, Ryne C.; Hardigan, Andrew A.; Prokop, Jeremy W.; Hancarova, Miroslava; Prchalova, Darina; Havlovicova, Marketa; Prchal, Jan; Stranecky, Viktor; Yim, Dwight K. C.; Powis, Zöe; Keren, Boris; Nava, Caroline; Mignot, Cyril; Rio, Marlene; Revah-Politi, Anya; Hemati, Parisa; Stong, Nicholas; Iglesias, Alejandro D.; Suchy, Sharon F.; Willaert, Rebecca; Wentzensen, Ingrid M.; Wheeler, Patricia G.; Brick, Lauren; Kozenko, Mariya; Hurst, Anna C. E.; Wheless, James W.; Lacassie, Yves; Myers, Richard M.; Barsh, Gregory S.; Sedlacek, Zdenek; Cooper, Gregory M.
2018
Articles
GeneticsDevelopmental disabilities--Genetic aspectsGuanosine triphosphataseRecombinant proteins

3. Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes

Di Rocco, Alessandro; Loggini, Andrea; Di Rocco, Maja; Di Rocco, Pietro; Rossi, Roger; Gimelli, Giorgio; Bazil, Carl W.
2013
Articles
ConvulsionsPregabalinGABA--ReceptorsDevelopmental disabilitiesDevelopmental disabilities--Genetic aspectsAbnormalities, Human--Genetic aspectsGeneticsMedicineNeurosciences