🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

📣Call for Papers, 1 week left! CSH Molecular Case Studies is inviting submissions of papers for a special issue co-edited by Drs. Elaine Mardis & Kenna Shaw on the topic of cancers w/an emphasis on the use of liquid biopsy & monitoring patients w/CHIP Submit here ➡️submit.molecularcasestudies.org

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia. molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

Lorlatinib and compound mutations in ALK+ large-cell neuroendocrine lung carcinoma: a case report molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

Genetic diagnosis for adult patients at a genetic clinic molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

A Novel Biallelic Loss-of-Function Variant in DAND5 Causes Heterotaxy Syndrome molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early onset recessive rod-cone degeneration molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

Germline Mosaicism in a Family with MBD5 Haploinsufficiency molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

Characterization of a novel deep intronic variant In DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

A TRIP11: FLT3 gene fusion in a patient with myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions: a case report and review of the literature molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

Single-cell profiling of multiple myeloma reveals molecular response to FGFR3 inhibitor despite clinical progression molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

🚨📣Last Call for submissions for CSH Molecular Case Studies special issue on Cancers! Submit here: ➡️submit.molecularcasestudies.org

📣Last Call for submissions for CSH Molecular Case Studies special issue on Cancers! molecularcasestudies.cshlp.org/site/misc/call… Below, Editor-in-Chief Elaine Mardis talks about the importance of publishing case studies. Submit here: ➡️submit.molecularcasestudies.org

🚨📣Last Call for submissions for CSH Molecular Case Studies special issue on Cancers! molecularcasestudies.cshlp.org/site/misc/call… Below, Editor-in-Chief Elaine Mardis talks about the importance of publishing case studies. Submit here: ➡️submit.molecularcasestudies.org

A novel WFS1 variant associated with isolated congenital cataracts molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

PIK3CA copy number gain and inhibitors of the PI3K/AKT/mTOR pathway in triple-negative breast cancer molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

Defining clonal hematopoiesis of indeterminate potential: evolutionary dynamics and detection under aging and inflammation molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine

Progressive metastatic infantile fibrosarcoma with multiple acquired mutations molecularcasestudies.cshlp.org/cgi/content/sh… #PrecisionMedicine