M. Russell

发表

Identification of Initiating Trunk Mutations and Distinct Molecular Subtypes: An Interim Analysis of the Mmrf Commpass Study

J. Carpten, J. Fay, S. Jewell, 2015 .

Interim Analysis of the Mmrf Commpass Trial: Identification of Novel Rearrangements Potentially Associated with Disease Initiation and Progression

J. Carpten, S. Jewell, D. Rohrer, 2014 .

Molecular Predictors of Outcome and Drug Response in Multiple Myeloma: An Interim Analysis of the Mmrf CoMMpass Study

Winnie S. Liang, J. Carpten, J. Fay, 2016 .

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

S. Nelson, S. Szelinger, D. Craig, 2020, Neurology: Genetics.

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

Vinodh Narayanan, Megan Russell, Jason J. Corneveaux, 2016, Cold Spring Harbor molecular case studies.

Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)

Winnie S. Liang, B. Monk, J. Trent, 2014, Rare diseases.

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability

S. Szelinger, D. Craig, V. Narayanan, 2017, F1000Research.

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

Jason J. Corneveaux, J. Trent, H. Cunliffe, 2014, Nature Genetics.

Abstract 4493: Germline findings in targeted tumor sequencing using matched normal DNA

J. Carpten, J. Trent, D. Craig, 2016 .

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

Winnie S. Liang, J. Carpten, S. Coons, 2015, Molecular genetics & genomic medicine.

An Integrated Framework for Reporting Clinically Relevant Biomarkers from Paired Tumor/Normal Genomic and Transcriptomic Sequencing Data In Support of Clinical Trials in Personalized Medicine

Sara Nasser, Jeffrey M. Trent, Patricia M. LoRusso, 2014, Pacific Symposium on Biocomputing.

Integration of Downstream Signals of Insulin-like Growth Factor-1 Receptor by Endoplasmic Reticulum Stress for Estrogen-Induced Growth or Apoptosis in Breast Cancer Cells

H. Cunliffe, V. Jordan, P. Maximov, 2015, Molecular Cancer Research.

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

S. Szelinger, D. Craig, V. Narayanan, 2017, Seminars in pediatric neurology.

A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus

J. Opitz, S. Szelinger, V. Narayanan, 2017, American journal of medical genetics. Part A.

Interim Analysis of the MMRF CoMMpass Study: Comprehensive Characterization of Multiple Myeloma Patients at Diagnosis Reveals Distinct Molecular Subtypes and Clinical Outcomes

Winnie S. Liang, J. Carpten, J. Fay, 2015 .