Anne Slavotinek

35PUBLICATIONS
121CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene mappingSocial and personality psychology not elsewhere classifiedNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (35)

|Jun 06, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

|Apr 23, 2026
Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature review.

|Feb 26, 2026
A review of Hallermann-Streiff syndrome demonstrates clinical overlap with other conditions.

Caroline Cavender, Carrie Atzinger, Anne Slavotinek

|Dec 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDER.

Wallid Deb, Thomas Besnard, Florence Desprez

|Nov 08, 2025
Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery.

Kristin Theobald, Amelle Shillington, Farrah Jackson

|Apr 15, 2025
A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116.

Jannis Buecking, Yu An, Weimin Bi

Pageof 6

Frequent Collaborators

3 joint publications

Joseph T Shieh

3 joint publications

Benjamin D Solomon

3 joint publications

Monica Penon-Portmann

2 joint publications

Bryce A Mendelsohn