Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson, +70

Genome Research

Genome-wide Association StudyEpidemiologySequencingExome SequencingGenetics +13

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Surabhi Mulchandani, Elizabeth Bhoj, Minjie Luo, +15

Genetics in Medicine

Developmental AnomalyChromatinInfertilityDevelopmental BiologyFertility +12

“What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing

Marian Reiff, Barbara A. Bernhardt, Surabhi Mulchandani, +4

Genetics in Medicine

Genetic AnalysisGenetic TestingMedicineGeneticsDna Microarrays +8

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

Cheryl DeScipio, Laura K. Conlin, Jill A. Rosenfeld, +23

American Journal of Medical Genetics Part A

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

Marian Reiff, Ellen Giarelli, Barbara A. Bernhardt, +4

Journal of Autism and Developmental Disorders

Child PsychologyAutism Spectrum DisordersChromosomal Microarray AnalysisDna MicroarraysParents ’ Perceptions +7

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Feng Li, Yiping Shen, U Köhler, +21

European Journal of Medical Genetics

Genetic DisorderGeneticsInterstitial MicroduplicationPathologyMedicine +1

Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy

Jennifer M. Kalish, Laura K. Conlin, Tricia Bhatti, +16

American Journal of Medical Genetics Part A

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

Marian Reiff, Kathryn M. Ross, Surabhi Mulchandani, +4

Clinical Genetics

Family MedicineGenetic TestingGenetic EpidemiologyClinical GuidelinesChromosomal Microarray Testing +15

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

Jorune Balciuniene, Elizabeth T. DeChene, Gozde Akgumus, +11

JAMA Network Open

Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low‐<scp>L</scp>evel Uniparental Disomy

Jennifer M. Kalish, Laura K. Conlin, Sogol Mostoufi‐Moab, +13

American Journal of Medical Genetics Part A