Medical genetics: end of the beginning or beginning of the end?

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.

Clinical genetics·2012

Motivations and perceptions of early adopters of personalized genomics: perspectives from research participants.

Public health genomics·2011

Disorders of vascular fragility: implications for active patients.

The Physician and sportsmedicine·2010

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

Journal of medical genetics·2009

Attitudes antecedent to transition to self-management of a chronic genetic disorder.

Clinical genetics·2008

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Human mutation·2007

Barriers and facilitators of implementing integrated genomic risk assessment - a qualitative case study in an academic-affiliated health system.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Rescue of Proteus syndrome lethality in mice with prenatal miransertib treatment.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Universal versus guideline-based germline multigene panel testing in solid tumors: Diagnostic yield, variant of uncertain significance burden, and clinical actionability - A systematic review with meta-analysis.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Who Are We Missing: Examining Health Insurance Coverage for Expanded Carrier Screening.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Copy Number Variant Detection by Exome/Genome Sequencing Versus Chromosomal Microarray: A Comparative Study of Over 9,000 Clinical Cases.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Integrated Multi-Omics Analyses Identify TYMP as a Candidate Protective Immunoregulatory Marker in CD4⁺ T Cells During Sepsis.

Journal of inflammation research·2026

Chromosome-level genome assembly of Nekemias grossedentata provides new insights into genome evolution and flavonoid biosynthesis.

Plant diversity·2026

Whole Genome Sequencing Reveals Antibiotic Resistance Heterogeneity and Metabolic Signatures of Cutibacterium acnes in Atopic Dermatitis.

Current microbiology·2026

Endothelial SLC25A13 links glutamine metabolism to angiogenesis.

EMBO molecular medicine·2026

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.

Molecular psychiatry·2026

Claudin-5 regulates mitochondrial bioenergetics and protects the heart against myocardial infarction.

Biochimica et biophysica acta. Molecular basis of disease·2026

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Medical genetics: end of the beginning or beginning of the end?

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Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.

Motivations and perceptions of early adopters of personalized genomics: perspectives from research participants.

Disorders of vascular fragility: implications for active patients.

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

Attitudes antecedent to transition to self-management of a chronic genetic disorder.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Barriers and facilitators of implementing integrated genomic risk assessment - a qualitative case study in an academic-affiliated health system.

Rescue of Proteus syndrome lethality in mice with prenatal miransertib treatment.

Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.

Universal versus guideline-based germline multigene panel testing in solid tumors: Diagnostic yield, variant of uncertain significance burden, and clinical actionability - A systematic review with meta-analysis.

Who Are We Missing: Examining Health Insurance Coverage for Expanded Carrier Screening.

Copy Number Variant Detection by Exome/Genome Sequencing Versus Chromosomal Microarray: A Comparative Study of Over 9,000 Clinical Cases.

Integrated Multi-Omics Analyses Identify TYMP as a Candidate Protective Immunoregulatory Marker in CD4⁺ T Cells During Sepsis.

Chromosome-level genome assembly of Nekemias grossedentata provides new insights into genome evolution and flavonoid biosynthesis.

Whole Genome Sequencing Reveals Antibiotic Resistance Heterogeneity and Metabolic Signatures of Cutibacterium acnes in Atopic Dermatitis.

Endothelial SLC25A13 links glutamine metabolism to angiogenesis.

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.

Claudin-5 regulates mitochondrial bioenergetics and protects the heart against myocardial infarction.

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Medical genetics: end of the beginning or beginning of the end?

Related Concept Videos

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