Maja Tarailo‐Graovac

A course-undergraduate research experience (CURE) to explore the effect of structural variants on gene expression in C. elegans balancers

Tatiana Maroilley, Victoria Rodrigues Alves Barbosa, Rumika Mascarenhas, Suzanne Ferris et autres

ca (code pays fourni par la source)

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease

Simran Samra, Mehul Sharma, Julia Körholz, Yihui Liu et autres

ca, de, us, ch, nl, in, fi, sa, it (code pays fourni par la source)

Functional studies of human variants in C. elegans link iron metabolism to DPD deficiency and 5-FU sensitivity

Xiao Li, Ivette M. Menéndez‐Perdomo, André B. P. Kuilenburg, Maja Tarailo‐Graovac

ca, nl (code pays fourni par la source)

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine

Xiao Li, Mehdi Yeganeh, Graham Sinclair, Jill Mwenifumbo et autres

ca, nl (code pays fourni par la source)

The cost and cost trajectory of genome sequencing and bioinformatics analysis for Indigenous children with suspected rare diseases

Morgan Ehman, Kartik Sharma, Deirdre Weymann, Tatiana Maroilley et autres

ca (code pays fourni par la source)

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease

Mehul Sharma, Simran Samra, Yihui Liu, Alyssa James et autres

ca, us, ch, nl, in, fi (code pays fourni par la source)

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma

Maggie P. Fu, Mehul Sharma, Pariya Yousefi, Sarah M. Merrill et autres

ca, us, ch, nl (code pays fourni par la source)

Tu1164: BIALLELIC MUTATIONS IN CENTROSOMAL PROTEIN 192 (CEP192) RESULTS IN NOVEL MULTISYSTEMIC DISORDER

Paula Prieto-Jimenez, Sergio Solorzano-Vargas, Michael R. Matthews, Elmíra Tokhtaeva et autres

2024 VCP International Conference: Exploring multi - disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein , to the therapeutic advancement for VCP - associated multisystem proteinopathy

Allison Peck, Amal Dadi, Zollie Yavarow, Lindsay N. Alfano et autres

Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy

Rumika Mascarenhas, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur et autres

ca (code pays fourni par la source)

Detection of Complex Genomic Rearrangements Using Short-Read Whole Genome Sequencing in C. elegans

Tatiana Maroilley, Maja Tarailo‐Graovac

ca (code pays fourni par la source)

Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model

Ivette M. Menéndez‐Perdomo, Maja Tarailo‐Graovac

ca (code pays fourni par la source)