The power of #datasharing and #functionaltesting : Recurrent de novo heterozygous variant in FEM1B associated with a severe syndromic #neurodevelopmental disorder bit.ly/3UjyXSA #GeneMatcher #neurogenetics François Lecoquierre Génétique des Anomalies du Développement

Join us for an informative Webinar: GUARDIAN: Genomics to enhance newborn screening on April 30, 2024.
Organized by: Genetics in Medicine and #GIMOpen — Official Journals of ACMG
spkl.io/60104FuuC

Are you considering #mitochondrialdisorders when investigating #CharcotMarieTooth ? Alternative splicing could be responsible for milder phenotypes in #mitodisease bit.ly/3UmajRC JordanovasLab

Genetics in Medicine and Genetics in Medicine Open will present a free webinar on April 30th on the pilot study GUARDIAN (Genomic Uniform screening Against Rare Diseases In All Newborns). Featuring
Wendy Chung

Is diagnostic yield the bottom line in #genetictesting ? Fehlberg et al. identify priority indicators of genomic utility bit.ly/3Q1FfDR #DelphiSurvey Zoe Fehlberg Ilias Goranitis @AndrewMallet8 Prof Zornitza Stark Stephanie Best

Patients receiving news of pathogenic/likely pathogenic #secondaryfindings experience surprise and shock, but can find a sense of control through seeking clinical evaluation and informing relatives bit.ly/3xrJnH6 #100Kgenomes #patientperspective Liz Ormondroyd Josh Nolan

New study finds germline pathogenic/likely pathogenic variants in #cancer predisposing genes other than RB1 are not associated with higher risk of tumorigenesis or disease progression in retinoblastoma bit.ly/43WbAlj #GIMO #Retinoblastoma #genetics

Checking CHEK2 for cancer risk
March Editor’s Choice from Genetics in Medicine
spkl.io/60164Fuu4
ACMG

Who will get a #genetic diagnosis? Pucel et al. identify factors that predict the odds of getting a diagnosis by #exome and #genome sequencing bit.ly/3Q0yP83

Join us for an informative Webinar: GUARDIAN: Genomics to enhance newborn screening on April 30, 2024.
Organized by: Genetics in Medicine and #GIMOpen — Official Journals of ACMG
spkl.io/60134FHQJ

Trio copy number analysis of Genomics England 100,000 Genomes Project identified rare biallelic deletions and SLC66A1 as a novel cause for autosomal recessive #retinopathy bit.ly/3vHPPJs Eric Olinger john sayer #GIMO #GenomeSequencing #CNVAnalysis #Nephronophthisis

Loss-of-function variants in #NIT1 lead to cerebral small vessel disease and associated #movementdisorder #hemorrhagicstroke bit.ly/43UITp2

Study finds link between biallelic LoF variants in #UBAP1L and a nonsyndromic retinal degeneration phenotype bit.ly/3PREQE1 #IRD #retinitispigmentosa #rodconedystrophy #coneroddystrophy

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

New #EditorsChoice : Dias et al. found that the cost of trio #genome sequencing analysis as a first-line test for intellectual disability diagnosis would need to be reduced by about 60% to be cost equivalent to contemporary #exomesequencing trio analysis bit.ly/3sW2eId

'Fast and Furious'! Genetic risk assessed by ultra-rapid genomic sequencing workflow bit.ly/3J5pU1k Danny E. Miller MD PhD #GIMO #UltraRapidSequencing #LongReadSequencing #Nanopore #GeneticTesting #Genomics

Hiding in plain sight: #Cofactors may be the missing link between #raredisease #phenotypes and genetic diagnosis bit.ly/3xsJz8I #neurodegeneration #zebrafish #CIAO1 #MMS19 #ironsulfurclusters

Can an electronic consultation service led by a 'primary care physician champion' triage and respond to genetics questions? The answer is yes, and it yields high provider satisfaction bit.ly/3J8Jfyt Dr. Jason Vassy #GIMO #ReferralAndConsultation #Genetics #PrimaryHealthcare

From correcting a misdiagnosis of #cerebralpalsy to resolving undiagnosed disorders for families who were not previously able to afford genetic testing: The April #GenePod explores findings from the Texome Project with author Michael Wangler bit.ly/3TDpGU1 Michael Wangler

Significant contribution of novel rare variants on newly configured haplotypes arising within the recent past generations of a family or clan to recessive disease traits: new analysis of the variome of the Turkish (TK) population bit.ly/3x8fhYL zeynep coban akdemir 🇺🇦 #GIMO