Publications by authors named "M Splitt"

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Miranda Splitt

Am J Hum Genet· November 2025

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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Sandra Coppens, Nicolas Deconinck, Patricia Sullivan, Andrei Smolnikov, Joshua S Clayton, Miranda P Splitt

Ann Neurol· April 2025

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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Vani Jain, Seow Hoong Foo, Stephen Chooi, Celia Moss, Richard Goodwin, Miranda Splitt

Eur J Hum Genet· December 2023

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Miranda Splitt

Am J Hum Genet· June 2023

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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Miranda Splitt

Nat Commun· February 2023

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