Revised Neuroblastoma Risk Classification System: A Report From the Children's Oncology Group

Meredith S. Irwin, Arlene Naranjo, Fan F. Zhang, +14

Journal of Clinical Oncology

Billing for Medical Genetics and Genetic Counseling Services: A National Survey

Tabitha A. Harrison, Debra Lochner Doyle, Caroline McGowan, +4

Journal of Genetic Counseling

CounselingFamily MedicineGenetic TestingProgram ImplementationGenetic Medicine +19

De novo loss-of-function variants in <i>NSD2</i> (<i>WHSC1</i>) associate with a subset of Wolf–Hirschhorn syndrome

Elizabeth S. Barrie, Maria P. Alfaro, Ruthann Pfau, +4

Molecular Case Studies

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience

Cecelia Miller, Kristy Lee, Ruthann Pfau, +17

Molecular Case Studies

Exome SequencingGeneticsGenetic EpidemiologyGynecologyPathology +14

Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas

Margaret Shatara, Kathleen M. Schieffer, Darren Klawinski, +24

Acta Neuropathologica Communications

Duplication of the Xq27.3–q28 region, including the <i>FMR1</i> gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

Scott E. Hickey, Lauren Walters‐Sen, Theresa Mihalic Mosher, +5

American Journal of Medical Genetics Part A

Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing

Matthew R. Avenarius, Cecelia Miller, Michael Arnold, +9

Journal of Molecular Diagnostics

Tumor HeterogeneityNext-generation SequencingGeneticsCancer GenomicsGenomics +2

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation

Ruthann Pfau, Devon Lamb Thrush, Elizabeth Hamelberg, +7

European Journal of Medical Genetics

Developmental BiologyGenetic DisorderGeneticsMcph1 DeletionPathology +5

Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly

Marilena Melas, Esko A. Kautto, Samuel J. Franklin, +11

Human Mutation

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders

Elena Repnikova, Dmitry Lyalin, Kimberly S. McDonald, +7

European Journal of Medical Genetics