Terkko Navigator / Cold Spring Harbor Molecular Case Studies

De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy [Rapid Communication]

A case of microsatellite instability-high clinically advanced castration-resistant prostate cancer showing a remarkable response to pembrolizumab sustained over at least 18 months [Research Report]

9p21.3 microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature. [Research Report]

A Novel TP53 Tandem Duplication in a Child with Li-Fraumeni Syndrome [Rapid Cancer Communication]

Patient Perspective: My Rare Disease Journey [Perspective]

2022: A pivotal year for diagnosis and treatment of rare genetic diseases [Perspective]

TOWARDS TRANSCRIPTOMICS AS A PRIMARY TOOL FOR RARE DISEASE INVESTIGATION [Commentary]

A case for newborn screening for pyridoxine-dependent epilepsy [Commentary]

A mild case of SMVT deficiency illustrating the importance of treatment response in variant classification [Research Report]

m.3685T>C is a Novel Mitochondrial DNA Variant That Causes Leigh Syndrome [Research Report]

Ethylmalonic encephalopathy masquerading as meningococcemia [Research Report]

Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication [Research Report]

Neurodevelopmental and Neuropsychiatric Disorders in Cobalamin C Disease: A Case Report and Review of the Literature [Research Report]

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder [Research Report]

Reanalysis of a novel variant in the IGF1R gene in a family with variable pre-and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program [Research Report]

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. [Rapid Communication]

Histological and Molecular Plasticity of ALK-positive Non-Small-Cell Lung Cancer under Targeted Therapy - a Case Report [Research Report]

Whole Exome Sequencing detects PYGM variants in two adults with McArdle disease [Rapid Communication]

Novel variants identified in CKAP2L in two siblings with Filippi Syndrome [Rapid Communication]

Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features [Variant Discrepancy Resolution]

Hi-C detects genomic structural variants in peripheral blood of pediatric leukemia patients [Research Report]

CLINICOPATHOLOGIC AND MOLECULAR ANALYSIS OF A SINGLE BCOR-CCNB3+ UNDIFFERENTIATED SARCOMA OF THE KIDNEY CONFERS SIGNIFICANT EPIGENETIC ALTERATIONS [Research Article]

Novel MYO5B Mutation in Microvillous Inclusion Disease of Syrian Ancestry [Research Report]

Transient Myeloproliferative Disorder as the Presenting Feature for Mosaic Trisomy 21 [Rapid Communication]

Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome [Research Report]

A Hidden Structural Variation in a Known IRD Gene: A Cautionary Tale of Two New Disease Candidate Genes [Research Report]

Classification of the canonical splice alteration MUTYH c.934-2A>G is likely benign based on RNA and clinical data [Variant Discrepancy Resolution]

Autosomal recessive SLC30A9 variants in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity [Research Article]

Somatic Variation as an Incidental Finding in the Pediatric Next Generation Sequencing Era [Research Report]

Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: Clinical and genetic counseling implications [Research Article]

Epigenetic mosaicism and cell burden in Beckwith-Wiedemann Syndrome due to loss of methylation at imprinting control region 2 [Research Article]

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome [Rapid Communication]

PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma [Research Report]

MED13L-related intellectual disability due to paternal germinal mosaicism [Rapid Communication]

Case Report: Five-Year Experience of AKT Inhibition with Miransertib (MK-7075) in an Individual with Proteus Syndrome [Research Report]

Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome [Research Report]

Bockenheimer Disease is Associated With a TEK Variant [Rapid Communication]

Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features [Research Report]

Parkes Weber Syndrome with Lymphedema Caused by a Somatic KRAS Variant [Rapid Communication]

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome [Research Report]

A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum. [Research Report]

A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum. [Research Report]

Intra- and inter-tumoral heterogeneity of liver metastases in a patient with uveal melanoma revealed by single-cell RNA sequencing [Research Report]

Genetic and transcriptomic analyses in a rare case of HPV-related oropharyngeal squamous cell carcinoma combined with small cell carcinoma [Research Report]

Mechanisms of targeted therapy resistance in a pediatric glioma driven by ETV6-NTRK3 fusion [Research Report]

Metastatic Pediatric Sclerosing Epithelioid Fibrosarcoma [Research Report]

A novel likely-pathogenic variant in a patient with Hermansky-Pudlak Syndrome [Research Report]

Metastatic Pediatric Sclerosing Epithelioid Fibrosarcoma [Research Report]

Exceptional response to the ALK and ROS1 inhibitor lorlatinib and subsequent mechanism of resistance in relapsed ALK F1174L-mutated neuroblastoma [Research Report]

Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles [Research Article]