Genetics in Medicine

@GIMJournal

Genetics in Medicine, an official journal of @TheACMG Site use policy: http://bit.ly/gimconduct. Cover image by http://istockphoto.com user fanjianhua.

Bethesda, MD

Joined February 2015

3KFollowing

16KFollowers

Genetics in Medicine@GIMJournal · Jul 25

Neurogenetics alert! Biallelic loss of function variants in ELFN1 cause a neurodevelopmental disorder with DD/ID, seizures and movement disorder. bit.ly/4lLrZ46 @rhysdore

GIMJournal's tweet image. Neurogenetics alert! Biallelic loss of function variants in ELFN1 cause a neurodevelopmental disorder with DD/ID, seizures and movement disorder. bit.ly/4lLrZ46 @rhysdore

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Genetics in Medicine@GIMJournal · Jul 24

What role does the distinction between conditions and traits play in defining #eugenics? Study explores possible impact on genomics-based embryo selection. bit.ly/4kUtLi4 #Genomics #Ethics #IVF

GIMJournal's tweet image. What role does the distinction between conditions and traits play in defining #eugenics? Study explores possible impact on genomics-based embryo selection. bit.ly/4kUtLi4 #Genomics #Ethics #IVF

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Genetics in Medicine@GIMJournal · Jul 23

Join us on Wednesday, July 30th for a free webinar, "Advancing platform genomic therapies for inborn errors of metabolism” with speaker Rebecca Ahrens-Nicklas, MD, PhD. Register now at this link: bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing

GIMJournal's tweet image. Join us on Wednesday, July 30th for a free webinar, "Advancing platform genomic therapies for inborn errors of metabolism” with speaker Rebecca Ahrens-Nicklas, MD, PhD. Register now at this link: bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing

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Genetics in Medicine@GIMJournal · Jul 22

More than just 'subjects'. The future of research requires optimizing participant #engagement. bit.ly/4f2O1g7 #cancer #genetics

GIMJournal's tweet image. More than just 'subjects'. The future of research requires optimizing participant #engagement. bit.ly/4f2O1g7 #cancer #genetics

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Genetics in Medicine@GIMJournal · Jul 21

Interested in ketone body metabolism? Dive into this update on Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency. bit.ly/454eCFd #raredisease

GIMJournal's tweet image. Interested in ketone body metabolism? Dive into this update on Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency. bit.ly/454eCFd #raredisease

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Genetics in Medicine@GIMJournal · Jul 18

Is it worth it? Return of additional findings following genomic sequencing may not be #costeffective. bit.ly/4f37v4y #100kGP #healtheconomics #secondaryfindings

GIMJournal's tweet image. Is it worth it? Return of additional findings following genomic sequencing may not be #costeffective. bit.ly/4f37v4y #100kGP #healtheconomics #secondaryfindings

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Genetics in Medicine@GIMJournal · Jul 17

Clinical Conundrum. #DIS3L2 (L)PVs are a novel contributor to the #Wilmstumor #predisposition spectrum but do not present a clinically recognizable phenotype. bit.ly/3TLI8dG #pediatrics #cancer

GIMJournal's tweet image. Clinical Conundrum. #DIS3L2 (L)PVs are a novel contributor to the #Wilmstumor #predisposition spectrum but do not present a clinically recognizable phenotype. bit.ly/3TLI8dG #pediatrics #cancer

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Genetics in Medicine@GIMJournal · Jul 16

Don’t miss this free, live webinar on July 30: "Advancing platform genomic therapies for inborn errors of metabolism” presented by @GIMJournal Register today! bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing

GIMJournal's tweet image. Don’t miss this free, live webinar on July 30: "Advancing platform genomic therapies for inborn errors of metabolism” presented by @GIMJournal Register today! bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing

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Genetics in Medicine@GIMJournal · Jul 15

Staying one step ahead. Identifying patients with #PHTS before or at first primary cancer diagnosis can enable #early #detection of second primary #cancer. bit.ly/4eUSVfg @NicolineHoogerb

GIMJournal's tweet image. Staying one step ahead. Identifying patients with #PHTS before or at first primary cancer diagnosis can enable #early #detection of second primary #cancer. bit.ly/4eUSVfg @NicolineHoogerb

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Genetics in Medicine@GIMJournal · Jul 14

Bridging the gaps in clinical genetics services. A generalizable framework for #clinical #genetic #testing that can be organized based on testing needs, clinician expertise, and resources. bit.ly/3THineq #servicedeliverymodels @MichaelMackley

GIMJournal's tweet image. Bridging the gaps in clinical genetics services. A generalizable framework for #clinical #genetic #testing that can be organized based on testing needs, clinician expertise, and resources. bit.ly/3THineq #servicedeliverymodels @MichaelMackley

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Genetics in Medicine@GIMJournal · Jul 11

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Genetics in Medicine@GIMJournal · Jul 10

More options for treating individuals with MPS II? Idursulfase beta is safe and effective for the management of #HunterSyndrome bit.ly/4kt5pM7 #Mucopolysaccharidosis

GIMJournal's tweet image. More options for treating individuals with MPS II? Idursulfase beta is safe and effective for the management of #HunterSyndrome bit.ly/4kt5pM7 #Mucopolysaccharidosis

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Genetics in Medicine@GIMJournal · Jul 9

The challenges of #precisionmedicine. Study reveals ~50% of the genetic variants reported in diverse adult genetic practices are of uncertain clinical significance. bit.ly/46wJZdI #VUS #genomicmedicine

GIMJournal's tweet image. The challenges of #precisionmedicine. Study reveals ~50% of the genetic variants reported in diverse adult genetic practices are of uncertain clinical significance. bit.ly/46wJZdI #VUS #genomicmedicine

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Genetics in Medicine@GIMJournal · Jul 8

Study using All of Us data reveals major sociodemographic gaps in family health history access and EHR capture - risking wider health inequities in cancer and diabetes care. bit.ly/4eEDqb1 #GIMO #BreastCancer #ColorectalCancer #Diabetes #ElectronicHealthRecords

GIMJournal's tweet image. Study using All of Us data reveals major sociodemographic gaps in family health history access and EHR capture - risking wider health inequities in cancer and diabetes care. bit.ly/4eEDqb1 #GIMO #BreastCancer #ColorectalCancer #Diabetes #ElectronicHealthRecords

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Genetics in Medicine@GIMJournal · Jul 7

More than meets the eye. Non-canonical #FBN1 splice variants may account for ~3% of families with undiagnosed #FTAAD. bit.ly/3IhIN48 #Marfansyndrome @alistairp2011 @SureshSomarathi @LaughingGenome @smbanka @JamesFasham @ProfDBaralle @RDExeter @GenomicsEngland

GIMJournal's tweet image. More than meets the eye. Non-canonical #FBN1 splice variants may account for ~3% of families with undiagnosed #FTAAD. bit.ly/3IhIN48 #Marfansyndrome @alistairp2011 @SureshSomarathi @LaughingGenome @smbanka @JamesFasham @ProfDBaralle @RDExeter @GenomicsEngland

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Genetics in Medicine@GIMJournal · Jul 3

Genomics laboratory-driven proactive #reanalysis effectively provides more diagnostic #reclassifications compared to clinician-initiated reanalysis bit.ly/45SKL4H #exomesequencing

GIMJournal's tweet image. Genomics laboratory-driven proactive #reanalysis effectively provides more diagnostic #reclassifications compared to clinician-initiated reanalysis bit.ly/45SKL4H #exomesequencing

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Genetics in Medicine@GIMJournal · Jul 2

Communication is key. Study highlights the importance of having risk communication strategies that consider the specific emotional needs of individuals. bit.ly/45NG2kJ #Breastcancerscreening #Polygenicriskscore #riskcommunication

GIMJournal's tweet image. Communication is key. Study highlights the importance of having risk communication strategies that consider the specific emotional needs of individuals. bit.ly/45NG2kJ #Breastcancerscreening #Polygenicriskscore #riskcommunication

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Genetics in Medicine@GIMJournal · Jul 1

Lessons learned from negative results: No genetic causes found from a large cohort (N=149) of cases w/sporadic #MoebiusSyndrome, suggesting roles for environmental factors, somatic variants, or complex inheritance. bit.ly/4jYDsLS #GIMO #CongenitalFacialWeakness

GIMJournal's tweet image. Lessons learned from negative results: No genetic causes found from a large cohort (N=149) of cases w/sporadic #MoebiusSyndrome, suggesting roles for environmental factors, somatic variants, or complex inheritance. bit.ly/4jYDsLS #GIMO #CongenitalFacialWeakness

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Genetics in Medicine@GIMJournal · Jun 30

Clinical implementation of genetic testing in children with neurodevelopmental disabilities is low among those enrolled in Medicaid bit.ly/3ZV8DRs #Autismspectrumdisorder #genetictesting #healthcareaccess @Tlee_B

GIMJournal's tweet image. Clinical implementation of genetic testing in children with neurodevelopmental disabilities is low among those enrolled in Medicaid bit.ly/3ZV8DRs #Autismspectrumdisorder #genetictesting #healthcareaccess @Tlee_B

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Genetics in Medicine@GIMJournal · Jun 27

The 2023 U.S. medical genetics workforce study shows 85% women, 76% White, with over a third experiencing burnout. There is an urgent need to expand and diversify the field! bit.ly/46f1DCI @nccrcg

GIMJournal's tweet image. The 2023 U.S. medical genetics workforce study shows 85% women, 76% White, with over a third experiencing burnout. There is an urgent need to expand and diversify the field! bit.ly/46f1DCI @nccrcg

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