Terkko Navigator / Cold Spring Harbor Molecular Case Studies

Genomic evolution of uveal melanoma arising in ocular melanocytosis [Research Report]

Neonatal Diabetes Mellitus Due to a Novel Variant in the INS Gene [Research Report]

Genomic evolution of uveal melanoma arising in ocular melanocytosis [Research Report]

De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf- Hirschhorn syndrome [Rapid Communication]

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants [Follow-up Report]

MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing [Research Report]

Homozygous non-canonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delays [Research Report]

Urothelial carcinoma with an NRF1/BRAF rearrangement and response to targeted therapy [Rapid Cancer Communication]

Beta-mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA [Research Report]

From uncertainty to pathogenicity: Clinical and functional interrogation of a rare TP53 in-frame deletion [Research Report]

Integrative genomic analysis of peritoneal malignant mesothelioma: Understanding a case with extraordinary chemotherapy response [Research Report]

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures [Research Report]

Circulating Tumor DNA Dynamics using Patient-Customized Assays are Associated with Outcome in Neoadjuvantly-Treated Breast Cancer [Research Report]

Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis [Research Report]

Response to Olaparib in a PALB2 Germline Mutated Prostate Cancer and Genetic Events Associated with Resistance [Research Report]

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum [Research Report]

A semi-automated whole exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants [Research Report]

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC Variant, c.4666dup [Research Report]

Personalized Prescription of Imatinib in Recurrent Granulosa Cell Tumor of the Ovary: Case Report. [Research Report]

A newly identified mutation in the PEX26 gene is associated with a milder type of Zellweger spectrum disorder [Research Report]

Late-Onset Pattern Macular Dystrophy mimicking ABCA4 and PRPH2 disease is caused by a Homozygous Frameshift Mutation in ROM1 [Rapid Communication]

Xia-Gibbs Syndrome in adulthood: a case report with insight into the natural history of the condition [Research Report]

A recurrent novel MGA-NUTM1 fusion identifies a new subtype of high grade spindle cell sarcoma. [Research Report]