Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
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2022

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Genome medicine
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04/2021

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications
Cold Spring Harbor Molecular Case Studies
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2021

A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
Frontiers in Immunology
Lu, H.Y. and Sertori, R. and Contreras, A.V. and Hamer, M. and Messing, M. and Del Bel, K.L. and Lopez-Rangel, E. and Chan, E.S. and Rehmus, W. and Milner, J.D. and McNagny, K.M. and Lehman, A. and Wiest, D.L. and Turvey, S.E.
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2021

Rare SUZ12 variants commonly cause an overgrowth phenotype.
American journal of medical genetics. Part C, Seminars in medical genetics
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
American journal of human genetics
Haijes HA and Koster MJE and Rehmann H and Li D and Hakonarson H and Cappuccio G and Hancarova M and Lehalle D and Reardon W and Schaefer GB and Lehman A and van de Laar IMBH and van Hasselt PM
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07/2019

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Frontiers in neurology
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Clinical and genetic characteristics of late-onset Huntington's disease
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