Terkko Navigator / Cold Spring Harbor Molecular Case Studies

Identification of targetable BRAF {Delta}N486_P490 variant by whole genome sequencing leading to dabrafenib-induced remission of a BRAF-mutant pancreatic adenocarcinoma. [Rapid Cancer Communication]

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature [Rapid Communication]

Three Rare Disease Diagnoses in One Patient through Exome Sequencing [Rapid Communication]

Divergent clonal evolution of a common precursor to mantle cell lymphoma and classic Hodgkin lymphoma [Research Report]

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation [Rapid Communication]

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]