Response to correspondence from Gripp et al.-"clinical and molecular diagnosis should be consistent"

Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis.

NPJ genomic medicine·2026

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).

American journal of medical genetics. Part A·2023

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Nature cancer·2022

Development of a comprehensive approach to adult hereditary cancer testing in Ontario.

Journal of medical genetics·2022

The Clinical Landscape of NRAS- mutated Juvenile Myelomonocytic Leukemia-like Myeloproliferation Includes Children With Costello Syndrome.

Journal of pediatric hematology/oncology·2022

Building the What Comes Next Cohort for BRCA1 and BRCA2 testing: a descriptive analysis.

CMAJ open·2021

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome.

American journal of medical genetics. Part A·2026

The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

American journal of medical genetics. Part A·2026

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders.

American journal of medical genetics. Part A·2026

The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1-Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature.

American journal of medical genetics. Part A·2026

Expanding the Genotypic and Phenotypic Spectrum of Vissers-Bodmer Syndrome.

American journal of medical genetics. Part A·2026

Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM.

American journal of medical genetics. Part A·2026

Clinical Efficacy of High-Frequency Deep Repetitive Transcranial Magnetic Stimulation in the Treatment of Depression and the Predictive Role of Baseline Triglyceride Levels: A Randomized Sham-Controlled Trial.

Clinical EEG and neuroscience·2026

Mechanistic Basis and Therapeutic Potential of a Novel TXNIP Inhibitor in Diabetes Treatment.

Journal of medicinal chemistry·2026

Discovery of BRD9 PROTAC/IMiD Bifunctional Molecules as Potent Therapeutics for Hematologic Malignancies.

Journal of medicinal chemistry·2026

First line asciminib in chronic myeloid leukemia: a quest for the "Holy Grail" of tolerability.

Haematologica·2026

Successful treatment of systemic juvenile xanthogranuloma with an ABL2::GAB2 fusion using dasatinib after failure of conventional chemotherapy and MEK inhibition.

Haematologica·2026

Repurposing MK0873 as a non-covalent hTERT-Targeting compound: a proof of concept study.

Frontiers in aging·2026

Related Experiment Videos

Response to correspondence from Gripp et al.-"clinical and molecular diagnosis should be consistent"

Related Concept Videos

Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis.

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Development of a comprehensive approach to adult hereditary cancer testing in Ontario.

The Clinical Landscape of NRAS- mutated Juvenile Myelomonocytic Leukemia-like Myeloproliferation Includes Children With Costello Syndrome.

Building the What Comes Next Cohort for BRCA1 and BRCA2 testing: a descriptive analysis.

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome.

The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders.

The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1-Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature.

Expanding the Genotypic and Phenotypic Spectrum of Vissers-Bodmer Syndrome.

Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM.

Clinical Efficacy of High-Frequency Deep Repetitive Transcranial Magnetic Stimulation in the Treatment of Depression and the Predictive Role of Baseline Triglyceride Levels: A Randomized Sham-Controlled Trial.

Mechanistic Basis and Therapeutic Potential of a Novel TXNIP Inhibitor in Diabetes Treatment.

Discovery of BRD9 PROTAC/IMiD Bifunctional Molecules as Potent Therapeutics for Hematologic Malignancies.

First line asciminib in chronic myeloid leukemia: a quest for the "Holy Grail" of tolerability.

Successful treatment of systemic juvenile xanthogranuloma with an ABL2::GAB2 fusion using dasatinib after failure of conventional chemotherapy and MEK inhibition.

Repurposing MK0873 as a non-covalent hTERT-Targeting compound: a proof of concept study.

Related Experiment Videos

Response to correspondence from Gripp et al.-"clinical and molecular diagnosis should be consistent"

Related Concept Videos

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