A multicenter analysis of individuals with a 47,XXY/46,XX karyotype

Authors: Guess, Tiffany, Wheeler, Ferrin C., Yenamandra, Ashwini, Schilit, Samantha L.P., Anderson, Hannah S., Bone, Kathleen M., Carstens, Billie, Conlin, Laura, Dulik, Matthew C., Dupont, Barbra R., Fanning, Elizabeth, Gardner, Juli-Anne, Haag, Mary, Hilton, Benjamin A., Johnson, Jill, Kogan, Jillene, Murry, Jacyln, Polonis, Katarzyna, Quigley, Denise I., Repnikova, Elena A., Rowsey, Ross A., Spinner, Nancy, Stoeker, Mikayla, Thurston, Virginia, Wiley, Margaret, Zhang, Lei

Source: In Genetics in Medicine October 2024 26(10)

Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis

Authors: Smith, Rebecca B., Solem, Emily P., Metz, Emma C., Wheeler, Ferrin C., Phillips, John A., Yenamandra, Ashwini

Source: American journal of medical genetics.Part A. 185(4):1222-1227

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122551716.0x000001&indx=1&recIds=ETOCvdc_100122551716.0x000001

A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome

Authors: Vischini, Gisella, Kapp, Meghan E., Wheeler, Ferrin C., Hopp, Laszlo, Fogo, Agnes B.

Source: Human pathology. 81:229-234

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100072848913.0x000001&indx=1&recIds=ETOCvdc_100072848913.0x000001

Method of protecting against heart failure

52. A rare (7;12) translocation resulting in a rearrangement of the IKZF1 locus with concurrent deletion of CDKN2A, CDKN2B and PAX5 loci: an unannotated genetic abnormality in pediatric B-lymphoblastic leukemia/lymphoma

Authors: Yenamandra, Ashwini K., Kovach, Alexandra E., Wheeler, Ferrin C., Walsh, Wendy, Hodge, Anna C., Hollis, Amibeth E., Friedman, Debra L., Mason, Emily F.

Source: Cancer genetics. 233(S1):S20-S21

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083875496.0x000001&indx=1&recIds=ETOCvdc_100083875496.0x000001

Acquisition of aneuploidy drives mutant p53-associated gain-of-function phenotypes.

Authors: Redman-Rivera, Lindsay N., Shaver, Timothy M., Jin, Hailing, Marshall, Clayton B., Schafer, Johanna M., Sheng, Quanhu, Hongo, Rachel A., Beckermann, Kathryn E., Wheeler, Ferrin C., Lehmann, Brian D., Pietenpol, Jennifer A.

Source: Nature Communications; 8/31/2021, Vol. 12 Issue 1, p1-15, 15p

Subject Terms: PHENOTYPES, ANEUPLOIDY, GAIN-of-function mutations, P53 protein, GENETIC variation, MUTANT proteins

50. Loss of TP53 in a pediatric patient with Down syndrome, B-lymphoblastic leukemia, and the t(8;14)(q11.2q32) CEBPD/IGH translocation

Authors: Thompson, Mary Ann, Seegmiller, Adam, Smith, Christine, Zarnegar-Lumley, Sara, Montgomery, Kathleen W., Wheeler, Ferrin C., Yenamandra, Ashwini

Source: Cancer genetics. 233(S1):S20-S20

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083875503.0x000001&indx=1&recIds=ETOCvdc_100083875503.0x000001

Tnni3k Modifies Disease Progression in Murine Models of Cardiomyopathy.

Authors: Wheeler, Ferrin C.¹, Hao Tang¹, Marks, Odessa A.¹, Hadnott, Tracy N.¹, Pei-Lun Chu¹, Lan Mao², Rockman, Howard A.², Marchuk, Douglas A.¹ march004@mc.duke.edu

Source: PLoS Genetics. Sep2009, Vol. 5 Issue 9, p1-11. 11p. 8 Graphs.

Subject Terms: *CARDIOMYOPATHIES, *TRANSGENIC animals, *DISEASE progression, *PHENOTYPES, *GENE expression, *GENETIC research

QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival.

Authors: Wheeler, Ferrin C.¹, Fernandez, Liliana², Carlson, Kerri M.¹, Wolf, Matthew J.², Rockman, Howard A.¹, Marchuk, Douglas A.¹ march004@mc.duke.edu

Source: Mammalian Genome. Jun2005, Vol. 16 Issue 6, p414-423. 10p.

Subject Terms: *CARDIOMYOPATHIES, *HEART failure, *HYPERTROPHIC cardiomyopathy, *PHENOTYPES, *MEDICAL genetics, *RATS

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Institutional Training Opportunities for PhD Students in Laboratory Medicine: An Unmet Career Development Need?

Authors: Colby, Jennifer M., Wheeler, Ferrin C., Petrie, Kimberly A., Gould, Kathleen L., Schmitz, Jonathan E.

Source: Journal of Applied Laboratory Medicine; Mar2020, Vol. 5 Issue 2, p412-416, 5p

Subject Terms: DOCTOR of philosophy degree, CLINICAL pathology, MEDICAL specialties & specialists, STUDY & teaching of medicine, PHYSICIANS

51 - Triploidy in a Live-Born Female With Normal Non-Invasive Prenatal Testing Results

Authors: Wheeler, Ferrin C., Gilliam-Krakauer, Maria

Source: In Cancer Genetics May 2016 209(5):245-246

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Molecular Genetic Testing in the Genomic Era.

Authors: Sailey, Charles J., Wheeler, Ferrin C.

Source: Molecular Genetics & Personalized Medicine; 2012, p1-19, 19p

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