The GA4GH Phenopacket schema defines a computable representation of clinical data
TG is a shareholder of Westlake Omics Inc. TI is a cofounder of Data4Cure, is on the
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
The Matchmaker Exchange: a platform for rare disease gene discovery
AA Philippakis, DR Azzariti, S Beltran… - Human …, 2015 - Wiley Online Library
There are few better examples of the need for data sharing than in the rare disease
community, where patients, physicians, and researchers must search for “the needle in a …
community, where patients, physicians, and researchers must search for “the needle in a …
International cooperation to enable the diagnosis of all rare genetic diseases
Provision of a molecularly confirmed diagnosis in a timely manner for children and adults
with rare genetic diseases shortens their" diagnostic odyssey," improves disease …
with rare genetic diseases shortens their" diagnostic odyssey," improves disease …
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking
KM Boycott, DR Azzariti, A Hamosh… - Human mutation, 2022 - Wiley Online Library
Abstract The Matchmaker Exchange (MME) was launched in 2015 to provide a robust
mechanism to discover novel disease‐gene relationships. It operates as a federated …
mechanism to discover novel disease‐gene relationships. It operates as a federated …
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct …
G Cappuccio, C Sayou, PL Tanno, E Tisserant… - Genetics in …, 2020 - nature.com
Purpose Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF
chromatin remodeling complex, cause Nicolaides–Baraitser syndrome (NCBRS), a …
chromatin remodeling complex, cause Nicolaides–Baraitser syndrome (NCBRS), a …
The role of the clinician in the multi-omics era: are you ready?
CDM van Karnebeek, SB Wortmann… - Journal of Inherited …, 2018 - Springer
Since Garrod's first description of alkaptonuria in 1902, and newborn screening for
phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized …
phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized …
Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein, cause severe infantile syndromic encephalopathy
Infantile encephalopathies are a group of clinically and biologically heterogeneous
disorders for which the genetic basis remains largely unknown. Here, we report a syndromic …
disorders for which the genetic basis remains largely unknown. Here, we report a syndromic …
How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system
A Berger, AK Rustemeier, J Göbel, D Kadioglu… - Orphanet journal of rare …, 2021 - Springer
Background About 30 million people in the EU and USA, respectively, suffer from a rare
disease. Driven by European legislative requirements, national strategies for the …
disease. Driven by European legislative requirements, national strategies for the …
Determinants of power in gene-based burden testing for monogenic disorders
Whole-exome sequencing has enabled new approaches for discovering genes associated
with monogenic disorders. One such approach is gene-based burden testing, in which the …
with monogenic disorders. One such approach is gene-based burden testing, in which the …
Enabling global clinical collaborations on identifiable patient data: the Minerva initiative
The clinical utility of computational phenotyping for both genetic and rare diseases is
increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the …
increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the …