AnneM.SlavotinekMDPh.D

Clinical Genetics

Professor of Clinical Pediatrics, UCSF School of Medicine

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Office
3333 Burnet Ave
# 4006
Cincinnati, OH 45229
Phone+1 513-636-4760

Fax+1 513-636-7297

National Institutes of Health Clinical CenterResidency, Medical Genetics and Genomics, 2000 - 2002
The University of Adelaide Faculty of Health SciencesClass of 1987

Brain Development Research Program Start of enrollment: 2003 Aug 01
Recruiting
A Trial of Levodopa in Angelman Syndrome Start of enrollment: 2011 Jan 01
Completed
Phase 2, Phase 3

PubMed

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Thoa Ha, Angela Morgan, Meghan N Bartos, Katelyn Beatty, Benjamin Cogné
American Journal of Medical Genetics. Part A. 2024-07-01
4 citations
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin
NPJ Genomic Medicine. 2024-01-03
6 citations
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou
The Journal of Clinical Investigation. 2024-01-02

Journal Articles

Two Patients with FOXF1 Mutations with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and Other Malformations: Two Different Presentations and Outcomes
Luke M Judge, Jeff Fineman, Anne M Slavotinek, American Journal of Medical Genetics Part A
Private Payer Coverage Policies for Exome Sequencing (ES) in Pediatric Patients: Trends over Time and Analysis of Evidence Cited
Anne M Slavotinek, Michael P Douglas, Nature

De Novo Variants in SNAP25 Cause an Early-Onset Developmental and Epileptic EncephalopathyDecember 10th, 2020
As Genetic Testing Goes Mainstream, Clinics Emerge to Guide Patients Through InformationNovember 20th, 2017
NIH Awards UCSF Researchers $11.7M Grant to Launch Pediatric Precision Medicine Equity ProgramSeptember 8th, 2017
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Anopthalmia Spectrum DisordersNational Eye Institute2010–2011
Molecular Genetic Analysis Of Congenital Diaphragmatic HerniaEunice Kennedy Shriver National Institute Of Child Health &Human Development2007–2011
Genetic Analysis Of Congenital Diaphragmatic HerniaEunice Kennedy Shriver National Institute Of Child Health &Human Development2005–2006
Molecular Genetic Analysis Of Multiple Congenital Anomaly SyndromesNational Center For Research Resources2005
Molecular Genetic Analysis Of Fraser Syndrome And Fryns SyndromeNational Center For Research Resources2004–2005
Molecular Genetic Investigation Of Multiple Congenital Anomaly SyndromesNational Center For Research Resources2004