Samantha J. Bryen

SECISBP2 Deficiency Causes a Lethal Perinatal Cardiomyopathy

Carlos C. Smith-Díaz, Natasha Henden, Natalie P. Stewart, Samantha J. Bryen et autres

au, de (code pays fourni par la source)

Proteomics Uncovers Cryptic JPH2 Loss in Paediatric Dilated Cardiomyopathy

Carlos C. Smith-Díaz, Valerii Iaprintsev, Hannah Huckstep, Ivan Macciocca et autres

au, us, pl (code pays fourni par la source)

The Evidence Aggregator: AI reasoning applied to rare disease diagnostics

Hope Twede, Lynn Pais, Samantha J. Bryen, Gregory G. Smith et autres

us, au, gb (code pays fourni par la source)

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3

Michaela Yuen, Katharine Zhang, Rhett G. Marchant, Ryosuke Ishimura et autres

au, jp, us (code pays fourni par la source)

A Severe Neurodevelopmental Syndrome Linked to a South Asian Founder Variant in the UFMylation Adaptor CDK5RAP3

Michaela Yuen, Katharine Zhang, Rhett G. Marchant, Ryosuke Ishimura et autres

au, jp, us (code pays fourni par la source)

446PStructural variants (SVs) underlying neurogenetic and neuromuscular diseases

Gianina Ravenscroft, Carolin K. Scriba, Chiara Folland, Samantha J. Bryen et autres

au, us, nz (code pays fourni par la source)

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

Matthew J Welland, Kaileigh Ahlquist, Paul De Fazio, Christina Austin‐Tse et autres

au, us (code pays fourni par la source)

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Elsa Leitão, François Lecoquierre et autres

fr, de, gb, us, re, nl, au, ca, Maroc (code pays fourni par la source)

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

Alexandra Butters, Kate Thomson, Franki Harrington, Natasha Henden et autres

au, gb, nz, us, tw (code pays fourni par la source)

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

Sandra Coppens, Nicolas Deconinck, Patricia A. Sullivan, Andrei Smolnikov et autres

be, au, my, gb, lk, nl (code pays fourni par la source)

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Elsa Leitão, François Lecoquierre et autres

fr, cn, de, gb, us, re, nl, au, ca, Maroc (code pays fourni par la source)

482P Closing the gap in diagnosis of neuropathies and late-onset neurological disorders – a trans-Australia collaboration

Nigel G. Laing, Marina Kennerson, P. Lamont, Steve Vucic et autres