Presentation
Scientific Publications
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2026Journal (source)Am J Hum GenetDominant and recessive ATOH1 variants cause distinct neurodevelopmental disor...
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2025Journal (source)Mol Autism
Deciphering the genetic basis of developmental language disorder in children ...
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2022Journal (source)Am J Hum Genet
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...
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2021Journal (source)Blood
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl...
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2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2020Journal (source)Am. J. Hum. Genet.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,...
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2018Journal (source)Elife
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes t...
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2018Journal (source)Brain
De novo mutation screening in childhood-onset cerebellar atrophy identifies g...
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2018Journal (source)Hum Mutat
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
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2016Journal (source)Am J Hum Genet
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spec...
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2015Journal (source)Nat Genet
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and...
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2014Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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2014Journal (source)Cell
CLP1 founder mutation links tRNA splicing and maturation to cerebellar develo...
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2013Journal (source)Cell
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neuro...