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Author Details

Anne Slavotinek
Cincinnati Children's Hospital Medical Center
1993
247
43
PMIDPaper TitleJournal TitlePublished Year
37962958Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.J Clin Invest2024
37962958Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.J Clin Invest2024
36071576Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.Clin Genet2023
36071576Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.Clin Genet2023
36420660Retinopathy and optic atrophy in a case of <i>COQ2</i>-related primary coenzyme Q<sub>10</sub> deficiency.Ophthalmic Genet2023
37704358Genetics in Pediatric Practice.Pediatr Clin North Am2023
37704347Genetics in Pediatric Practice: From Baby Steps to Running Fast.Pediatr Clin North Am2023
37872195Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.NPJ Genom Med2023
37415602Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome.Front Genet2023
37470118Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.Pediatrics2023
36651673Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.Am J Med Genet A2023
37212252Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study.Genet Med2023
36574751TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.Am J Med Genet A2023
37137724Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment: A Cumulative 29-Year Safety Update.Neurology2023
37075751POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.Am J Hum Genet2023
37125634Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.Genet Med2023
36933558Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.Am J Hum Genet2023
37236975Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.NPJ Genom Med2023
37293051Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.medRxiv2023
37704358Genetics in Pediatric Practice.Pediatr Clin North Am2023
37704347Genetics in Pediatric Practice: From Baby Steps to Running Fast.Pediatr Clin North Am2023
37872195Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.NPJ Genom Med2023
37125634Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.Genet Med2023
37415602Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome.Front Genet2023
37212252Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study.Genet Med2023
37470118Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.Pediatrics2023
37075751POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.Am J Hum Genet2023
37236975Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.NPJ Genom Med2023
37137724Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment: A Cumulative 29-Year Safety Update.Neurology2023
37293051Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.medRxiv2023
36651673Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.Am J Med Genet A2023
36574751TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.Am J Med Genet A2023
36933558Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.Am J Hum Genet2023
36420660Retinopathy and optic atrophy in a case of <i>COQ2</i>-related primary coenzyme Q<sub>10</sub> deficiency.Ophthalmic Genet2023
34057224Preference for secondary findings in prenatal and pediatric exome sequencing.Prenat Diagn2022
35398350Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.Eur J Med Genet2022
35396980Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.Genet Med2022
35770347Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype.Am J Med Genet A2022
36369169Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.Nat Commun2022
35833928Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods.Genet Med2022
35512351Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.Hum Mol Genet2022
35441778Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.Am J Med Genet A2022
36158056Exome Sequencing Identifies a Novel <i>SIN3A</i> Variant in a Patient with Witteveen-Kolk Syndrome.Mol Syndromol2022
35491967Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.Am J Med Genet A2022
35362222S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome.EMBO Mol Med2022
35357580Predicting genes from phenotypes using human phenotype ontology (HPO) terms.Hum Genet2022
36430817Targeting the Complement-Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy.Int J Mol Sci2022
36414972Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.Genome Med2022
35916866De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.Genet Med2022
34057224Preference for secondary findings in prenatal and pediatric exome sequencing.Prenat Diagn2022
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Collaborators

Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 17
Pui-Yan Kwok
Cardiovascular Research Institute, University of California San Francisco
Co-authored papers 17
Adele Schneider
Co-authored papers 10
Elliott H Sherr
Co-authored papers 9
Tanya Bardakjian
Co-authored papers 9
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 8
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 7
Bruce D Gelb
Icahn School of Medicine at Mount Sinai
Co-authored papers 7
Barbara A Koenig
University of California-San Francisco.
Co-authored papers 6
Anthony T Moore
UCL Institute of Ophthalmology, University College London
Co-authored papers 6
Teresa N Sparks
University of California San Francisco
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Jacque L Duncan
University of California san francisco
Co-authored papers 5
Lucia A Hindorff
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 5
Mani Yahyavi
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Jane A Hurst
Great Ormond Street Hospital NHS Foundation Trust
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Ghayda M Mirzaa
Seattle Children's Hospital.
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Sara L Ackerman
University of California San Francisco
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Katrina A B Goddard
Center for Health Research, Kaiser Permanente Northwest
Co-authored papers 4
Dina Schneidman-Duhovny
The Hebrew University of Jerusalem
Co-authored papers 4
Ali Moshrefi
Illumina Inc.
Co-authored papers 4
Maximilian Muenke
National Human Genome Research Institute, The National Institutes of Health
Co-authored papers 4
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 4
Nara Sobreira
Johns Hopkins University
Co-authored papers 4
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 4
Jonathan S Berg
University of North Carolina
Co-authored papers 4
Simon Outram
University of California-San Francisco.
Co-authored papers 4
Len A Pennacchio
Lawrence Berkeley National Laboratory
Co-authored papers 3
Nelson D LopezJimenez
Co-authored papers 3
Julie S Cohen
Kennedy Krieger Institute
Co-authored papers 3
Benjamin D Solomon
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