CSH Molecular Case Studies

CSH Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine.

[CSH Molecular Case Studies @molcasestud]

🚨📣Call for Papers🚨
@molcasestud is inviting submissions of papers for a special issue co-edited by Drs. Elaine Mardis & @kennamshaw on the topic of cancers w/an emphasis on the use of liquid biopsy & monitoring/tracking patients w/CHIP

Submit here
➡️https://t.co/daRrYoQLes

[CSH Molecular Case Studies @molcasestud]

Progressive metastatic infantile fibrosarcoma with multiple acquired mutations https://t.co/Z5cf4gmpTx #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

Defining clonal hematopoiesis of indeterminate potential: evolutionary dynamics and detection under aging and inflammation https://t.co/iV3gxxNE03 #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

PIK3CA copy number gain and inhibitors of the PI3K/AKT/mTOR pathway in triple-negative breast cancer https://t.co/PltaTdV7K8 #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

A novel WFS1 variant associated with isolated congenital cataracts https://t.co/wsLOA2VdpS #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

🚨📣Last Call for submissions for
@molcasestud special issue on Cancers!
https://t.co/UBhO6cA6FN

Below, Editor-in-Chief Elaine Mardis talks about the importance of publishing case studies.

Submit here:

➡️https://t.co/D6UT1I8kNb

[CSH Molecular Case Studies @molcasestud]

📣Last Call for submissions for @molcasestud special issue on Cancers!
https://t.co/UBhO6cA6FN

Below, Editor-in-Chief Elaine Mardis talks about the importance of publishing case studies.

Submit here:

➡️https://t.co/daRrYoRj40

[CSH Molecular Case Studies @molcasestud]

🚨📣Last Call for submissions for @molcasestud special issue on Cancers!

Submit here:

➡️https://t.co/daRrYoQLes

[CSH Molecular Case Studies @molcasestud]

Single-cell profiling of multiple myeloma reveals molecular response to FGFR3 inhibitor despite clinical progression https://t.co/u0ghvN45Tz #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

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 https://t.co/9VyMus88RT #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

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 https://t.co/NzW8kcumWV #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

Germline Mosaicism in a Family with MBD5 Haploinsufficiency https://t.co/ITKtIB4MQf #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome https://t.co/hOo8PZDTnu #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early onset recessive rod-cone degeneration https://t.co/KVOUn1qXZc #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

A Novel Biallelic Loss-of-Function Variant in DAND5 Causes Heterotaxy Syndrome https://t.co/qkWPs184Ue #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy https://t.co/sDPb8ZZfcO #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

Genetic diagnosis for adult patients at a genetic clinic https://t.co/D7Ntlg1VXx #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

Lorlatinib and compound mutations in ALK+ large-cell neuroendocrine lung carcinoma: a case report https://t.co/ZdoTdZx1lt #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia. https://t.co/z0hEaGc434 #PrecisionMedicine

[CSH Molecular Case Studies @molcasestud]

📣Call for Papers, 1 week left!
@molcasestud is inviting submissions of papers for a special issue co-edited by Drs. Elaine Mardis & @kennamshaw on the topic of cancers w/an emphasis on the use of liquid biopsy & monitoring patients w/CHIP

Submit here
➡️https://t.co/D6UT1I7MXD