Laurie H Seaver

Jeremy W Prokop 4 collaborations

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None None 3 collaborations

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Weimin Bi 2 collaborations

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Fan Xia 2 collaborations

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Affiliations

Publications (14)

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Virus-induced genetics revealed by multidimensional precision medicine transcriptional workflow applicable to COVID-19.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.

Perinatal Manifestations of

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Mono and biallelic variants in

Réseau de co-auteurs