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Publications

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

Boby ML. et al, (2023), Science (New York, N.Y.), 382

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

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

RAS-pathway mutations are common in patients with ruxolitinib refractory/intolerant myelofibrosis: molecular analysis of the PAC203 cohort.

O'Sullivan JM. et al, (2023), Leukemia

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).

Deignan JL. et al, (2023), Genetics in medicine : official journal of the American College of Medical Genetics, 25

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.

Moore AR. et al, (2023), Journal of medical genetics

Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.

Hashim M. et al, (2023), Clinical genetics

A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

Pagnamenta AT. et al, (2023), Human Mutation, 2023, 1 - 9

The prevalence and phenotypic range associated with biallelic PKDCC variants

Pagnamenta AT. et al, (2023), Clinical Genetics

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

Conclusion of diagnostic odysseys due to inversions disruptingGLI3andFBN1

Pagnamenta AT. et al, (2022), Journal of Medical Genetics

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), Genetics in medicine : official journal of the American College of Medical Genetics

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Loong L. et al, (2022), Genetics in medicine : official journal of the American College of Medical Genetics

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Ellingford JM. et al, (2022), Genome medicine, 14

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

Gahbauer S. et al, (2022), bioRxiv

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.

Shoemark A. et al, (2022), The European respiratory journal

The Bartter-Gitelman Spectrum: Fifty Year Follow-up with Revision of Diagnosis after Whole Genome Sequencing

Stevenson M. et al, (2022), Journal of the Endocrine Society

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Palles C. et al, (2022), American journal of human genetics, 109, 953 - 960

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.

Giacopuzzi E. et al, (2022), Nucleic acids research

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), Human mutation

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Pagnamenta AT. et al, (2022), Clinical Genetics, 101, 127 - 133

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