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Publications

Open science discovery of potent noncovalent SARS-CoV-2 main protease inhibitors.

Boby ML. et al, (2023), Science, 382

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT. et al, (2023), Genome Med, 15

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Maroofian R. et al, (2023), Brain

The prevalence and phenotypic range associated with biallelic PKDCC variants.

Pagnamenta AT. et al, (2023), Clin Genet

Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 macrodomain of SARS-CoV-2.

Gahbauer S. et al, (2023), Proc Natl Acad Sci U S A, 120

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Cali E. et al, (2022), Genet Med

Structure-based inhibitor optimization for the Nsp3 Macrodomain of SARS-CoV-2.

Gahbauer S. et al, (2022), bioRxiv

The first human importin-beta-related disorder: syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

Van Gucht I. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 5 - 6

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Scala M. et al, (2022), Hum Mutat

SARS-CoV-2 infects the human kidney and drives fibrosis in kidney organoids

Jansen J. et al, (2022), Cell Stem Cell

Variable skeletal phenotypes associated with biallelic variants in PRKG2.

Pagnamenta AT. et al, (2021), J Med Genet

Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease

Hikmat O. et al, (2021), ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Marafi D. et al, (2021), Brain

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Salter CG. et al, (2021), Brain

Commentary: GM1-Gangliosidosis Type III Associated Parkinsonism.

Kurian MA. et al, (2021), Mov Disord Clin Pract, 8, S24 - S25

GM1-Gangliosidosis Type III Associated Parkinsonism.

Kaiyrzhanov R. et al, (2021), Mov Disord Clin Pract, 8, S21 - S23

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

Tan NB. et al, (2021), J Med Genet

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

Wright CF. et al, (2021), Am J Hum Genet

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Van Gucht I. et al, (2021), Am J Hum Genet

Fragment binding to the Nsp3 macrodomain of SARS-CoV-2 identified through crystallographic screening and computational docking.

Schuller M. et al, (2021), Sci Adv, 7

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