Whole Exome Sequencing in a Random Sample of North American Women with Leiomyomas Identifies MED12 Mutations in Majority of Uterine Leiomyomas

Megan McGuire, Alexander N. Yatsenko, Lori Hoffner, +3

PLoS ONE

GeneticsPathologyGynecologyMolecular GeneticsDisease Gene Identification +16

Genetics and biology of human ovarian teratomas. I. Cytogenetic analysis and mechanism of origin.

Urvashi Surti, Lori Hoffner, Arnab Chakravarti, +1

PubMed

p57KIP2 immunostaining and molecular cytogenetics: combined approach aids in diagnosis of morphologically challenging cases with molar phenotype and in detecting androgenetic cell lines in mosaic/chimeric conceptions

Lori Hoffner, Jeanette Dunn, Nicole N. Esposito, +2

Human Pathology

CytogeneticsMedicineGeneticsGenetic DisorderPathology +8

Genetics and biology of human ovarian teratomas

Lori Hoffner, Susan Shen‐Schwarz, Ranjan Deka, +2

Cancer Genetics and Cytogenetics

Human Ovarian TeratomasReproductive HealthPathologyGynecologyPublic Health +3

<i>NLRP7</i> in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage

Christiane Messaed, Wafaa Chebaro, Raphaël B. Di Roberto, +14

Journal of Medical Genetics

Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations

Rima Slim, Asangla Ao, Urvashi Surti, +6

Placenta

Genetic DisorderGeneticsRecurrent TriploidPathologyMedicine +2

Cytogenetic and histologic correlation of peripheral nerve sheath tumors of soft tissue

Uma N. M. Rao, Urvashi Surti, Lori Hoffner, +1

Cancer Genetics and Cytogenetics

Tumoral PathologyTumor InnervationMedicineSurgical PathologyPathology +5

Paternal Origins of Complete Hydatidiform Moles Proven by Whole Genome Single-Nucleotide Polymorphism Haplotyping

Jian‐Bing Fan, Urvashi Surti, Patricia Taillon‐Miller, +6

Genomics

BiologyGenetic AnalysisHaplotype DeterminationGenetic DisorderNatural Sciences +8

Cytogenetics and origins of pediatric germ cell tumors

Lori Hoffner, Ranjan Deka, Aravinda Chakravarti, +1

Cancer Genetics and Cytogenetics

Germ Cell BiologyTumoral PathologyGerm CellPathologyExtragonadal Germ Cell Tumours +4

The origin of trisomy 22: Evidence for acrocentric chromosome‐specific patterns of nondisjunction

Heather E. Hall, Urvashi Surti, Lori Hoffner, +3

American Journal of Medical Genetics Part A