User profiles for "author:Jennelle C Hodge"
 | Jennelle C. Hodge, PhD, FACMGProfessor, Indiana University School of Medicine Verified email at iu.edu Cited by 4524 |
[HTML][HTML] The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms
The upcoming 5th edition of the World Health Organization (WHO) Classification of
Haematolymphoid Tumours is part of an effort to hierarchically catalogue human cancers …
Haematolymphoid Tumours is part of an effort to hierarchically catalogue human cancers …
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression
JC Hodge, CC Morton - Human molecular genetics, 2007 - academic.oup.com
Uterine leiomyomata (UL), also known as fibroids, are the most common pelvic tumors in
women of reproductive age and are the primary indication for hysterectomy in the USA …
women of reproductive age and are the primary indication for hysterectomy in the USA …
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …
characterization has largely been restricted to cytogenetic resolution. We explored the …
[PDF][PDF] Rare deletions at the neurexin 3 locus in autism spectrum disorder
The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2
(NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important …
(NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important …
[PDF][PDF] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
The GPHN gene codes for gephyrin, a key scaffolding protein in the neuronal postsynaptic
membrane, responsible for the clustering and localization of glycine and GABA receptors at …
membrane, responsible for the clustering and localization of glycine and GABA receptors at …
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
AC Lionel, K Tammimies, AK Vaags… - Human molecular …, 2014 - academic.oup.com
Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have
been reported at 9q33. 1 by genome-wide studies in a few individuals with …
been reported at 9q33. 1 by genome-wide studies in a few individuals with …
Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the …
R Kanagal-Shamanna, JC Hodge, T Tucker, S Shetty… - Cancer genetics, 2018 - Elsevier
Multiple studies have demonstrated the utility of chromosomal microarray (CMA) testing to
identify clinically significant copy number alterations (CNAs) and copy-neutral loss-of …
identify clinically significant copy number alterations (CNAs) and copy-neutral loss-of …
TFE3 rearrangements in adult renal cell carcinoma: clinical and pathologic features with outcome in a large series of consecutively treated patients
Renal cell carcinoma (RCC) with chromosomal rearrangement of transcription factor for
immunoglobulin heavy-chain enhancer 3 (TFE3) at Xp11. 2 is a distinct subtype that was …
immunoglobulin heavy-chain enhancer 3 (TFE3) at Xp11. 2 is a distinct subtype that was …
[HTML][HTML] ALK alterations in adult renal cell carcinoma: frequency, clinicopathologic features and outcome in a large series of consecutively treated patients
Chromosomal rearrangements involving the anaplastic lymphoma kinase gene (ALK) at
2p23 result in fusion with various partner genes leading to aberrant production of oncogenic …
2p23 result in fusion with various partner genes leading to aberrant production of oncogenic …