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Human Mutation|July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delaysAndrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.Nature Communications|February 17, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.Nature Communications|November 7, 2018
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.Nature Communications|May 4, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.Blood Advances|April 14, 2026
Historical outcomes for patients with stage IA NLPHL: RGlobal nLPHL One Working Group (GLOW) retrospective analysesJamie E Flerlage, Dennis A Eichenauer, Michael Fuchs, et al.Pageof 15