New research reveals that biallelic mutations in #ZFTRAF1 are linked to a severe neurodevelopmental condition bit.ly/4b9YCDt Muhammad Sajid Hussain #Genetics #Neurodevelopment #mrnaprocessing #autophagy

Expanding our understanding of human development: Lethal Phenotypes Portal showcases a curated catalogue of human essential genes bit.ly/3wBeu2y #mendeliandisorders #lethalmouseknockouts #genediscovery

Therapeutics in #raredisease : Open-label extension of TAZPOWER finds sustained improvement in functional assessments and cardiac function in patients with #BarthSyndrome treated with Elamipretide bit.ly/3QA3KZn #cardiogenetics

New #EditorsChoice : The underrepresentation of many population groups in large population reference databases can lead to misclassification of rare, ancestry-specific variants, which can lead to costly false diagnoses bit.ly/3sW2eId

Now available online: the full Genetics in Medicine May 2024 issue! Explore here: bit.ly/3NgKw98 #GIM #genetics #genomics

From microform to severe: Clinical spectrum and inheritance of of DISP1-related #holoprosencephaly bit.ly/4bjIv5P #genetics #craniofacial Dupe Research group

Nuances of #DEI in #AI : Is regulatory oversight of #ArtificialIntelligence equipped to tackle #diversity challenges and potential risks of AI use in clinical #genomics ? bit.ly/3Up5hT6

Today at noon!

A new neurohepatopathy? Homozygous loss-of-function YKT6 variants cause neurodevelopmental delay with or without severe infantile liver disease bit.ly/49Xtq90

One assay serves all? This review discusses genome sequencing as a versatile and comprehensive approach for diverse genetic testing purposes bit.ly/3y0dCVJ #GIMO #ClinicalGenomeSequencing #ExomeSequencing #ShortReadSequencing #LongReadSequencing

Does the use of popmax reduce variant misclassification in underrepresented populations? Evaluation in a cohort of patients with familial CRC from Singapore and the U.S. bit.ly/44ia512 #DEI #Genomics #PopulationGenetics

Burden of reanalysis? A new study showed efficient reanalysis strategies by tracking updates in reputable clinical databases bit.ly/44fXXNU #GIMO #reanalysis #ClinVar #ACMGGuideline #screening #efficiency

When #MetabolicGenetics meets #CardioGenetics : significant burden of severe cardiac involvement in LCHAD deficiency including #Arrhythmia #Cardiomyopathy #SuddenCardiacDeath bit.ly/44jGeFE

Don't forget to register for this webinar organized by our official journals - Genetics in Medicine and #GIMOpen .

Register: spkl.io/60134FuRz

Comparison of methylation signatures between patients with Wolf-Hirschhorn syndrome (WHS) or NSD2 variants showed WHS-related DNA methylation signatures are dependent on #NSD2 dynsfunction, suggesting new way of identifying NSD2 variants bit.ly/44g4fxa #GIMO

Are we keeping up with the times? What do #geneticists and #geneticcounselors think about the use of digital tools for clinical practice? bit.ly/3WeKvrM

Webinar: GUARDIAN: Genomics to enhance newborn screening featuring Wendy Chung, MD, PhD.
Organized by: Genetics in Medicine and #GIMOpen — Official Journals of ACMG
Don't forget to register: spkl.io/60134FuRz

1 in 343 patients harbored copy number variants of ACMG SFv3.2 genes, according to a survey of a large cohort of nearly 11,000 patients bit.ly/3wbJJB5 Mahmoud Aarabi #GIMO #ACMG #CNV #CopyNumberVariants #SecondaryFinding #CopyNumberGain #CopyNumberLoss

The power of #datasharing and #functionaltesting : Ebstein et al. describe the consequences of USP14 biallelic loss-of-function variants and associated #neurodevelopmental disorder bit.ly/4b8IfGz #GeneMatcher #neurogenetics

Maximizing diagnosis while minimizing cost for people with intellectual disability - The latest Editor's Choice article hand-picked for you by EIC Dr. Robert D. Steiner. Read now 👉 spkl.io/60194FSHJ Genetics in Medicine ACMG