H. Major

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Tumor and Stem Cell Biology RABL 6 A Promotes G 1 – S Phase Progression and Pancreatic Neuroendocrine Tumor Cell Proliferation in an Rb 1-Dependent Manner

R. Askeland, A. Bellizzi, S. M. Reed, 2014 .

RABL6A promotes G1-S phase progression and pancreatic neuroendocrine tumor cell proliferation in an Rb1-dependent manner.

R. Askeland, A. Bellizzi, S. M. Reed, 2014, Cancer research.

Benign-Ex: Delineating Regions of the Human Genome Benign to Copy Number Variation.

B. Darbro, J. Manak, H. Major, 2022, medRxiv.

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension

V. Sheffield, S. Patil, Richard J. H. Smith, 2011, American journal of medical genetics. Part A.

DISCRIMINATOR: Assigning Cohort-Wide Provisional Pathogenicity Classifications to CNVs

B. Darbro, J. Manak, H. Major, 2022, medRxiv.

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

I. Scheffer, D. Goldstein, A. Allen, 2016, American journal of human genetics.

Candidate modifier genes for immune function in 22q11.2 deletion syndrome

B. Darbro, J. Manak, L. Desjardin, 2019, Molecular genetics & genomic medicine.

Interstitial duplication of 20q11.22q13.11: A case report and review of literature

Rachel D. Starks, H. Major, Kyle Dillahunt, 2021, Molecular genetics & genomic medicine.

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy

Kate M. Lawrence, I. Scheffer, H. Mefford, 2015, Epilepsy Research.

RABL6A Is an Essential Driver of MPNSTs that Negatively Regulates the RB1 Pathway and Sensitizes Tumor Cells to CDK4/6 Inhibitors

D. Meyerholz, D. Quelle, B. Darbro, 2020, Clinical Cancer Research.

CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays

Thomas L. Casavant, Val C. Sheffield, Benjamin W. Darbro, 2015, J. Biomed. Informatics.

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

P. Lockhart, I. Scheffer, J. Motelow, 2022, Human molecular genetics.

CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome

B. Darbro, H. Major, Catherina T. Pinnaro, 2023, Human Genetics.

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21

K. Keppler-Noreuil, J. Welch, H. Major, 2002, Developmental Medicine & Child Neurology.

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.

S. Patil, K. Keppler-Noreuil, J. Welch, 2002 .