AnneSlavotinekMD

PubMed

• Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
  Michelle L Thompson, Lisa J Martin, Bruce D Gelb, Anne M Slavotinek> ;HGG Advances. 2024 Mar 23
• Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications.
  W Gregory Feero, Robert D Steiner, Anne Slavotinek, Tiago Faial, Michael J Bamshad, Jehannine Austin, Bruce R Korf, Annette Flanagin, Kirsten Bibbins-Domingo> ;Nature Genetics. 2024 Apr 1
• Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications.
  W Gregory Feero, Robert D Steiner, Anne Slavotinek, Tiago Faial, Michael J Bamshad, Jehannine Austin, Bruce R Korf, Annette Flanagin, Kirsten Bibbins-Domingo> ;American Journal of Human Genetics. 2024 Apr 4
• Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications.
  W Gregory Feero, Robert D Steiner, Anne Slavotinek, Tiago Faial, Michael J Bamshad, Jehannine Austin, Bruce R Korf, Annette Flanagin, Kirsten Bibbins-Domingo> ;HGG Advances. 2024 Apr 11
• Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications.
  W Gregory Feero, Robert D Steiner, Anne Slavotinek, Tiago Faial, Michael J Bamshad, Jehannine Austin, Bruce R Korf, Annette Flanagin, Kirsten Bibbins-Domingo> ;Genetics in Medicine. 2024 Mar 12
• Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications.
  W Gregory Feero, Robert D Steiner, Anne Slavotinek, Tiago Faial, Michael J Bamshad, Jehannine Austin, Bruce R Korf, Annette Flanagin, Kirsten Bibbins-Domingo> ;JAMA. 2024 Apr 16
• Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review.
  Gangaram, B., Lee, V., Slavotinek, A.> ;American Journal of Medical Genetics. Part A. 2024 Feb 22
• Embracing the Science of Motherhood: Pregnancy's Transformative Effects on the Central Nervous System and the Radiance of Maternal Hormones and Immune Responses.
  Luca Marsili, Albert Frank Magnusen, Vyoma Snehal Trivedi, Anne Michele Slavotinek, Manoj Kumar Pandey> ;Discovery Medicine. 2023 Oct 1
• Genetics in Pediatric Practice: From Baby Steps to Running Fast.
  Anne Slavotinek> ;Pediatric Clinics of North America. 2023 Oct 1
• Genetics in Pediatric Practice.
  Anne Slavotinek, Brittany Simpson, Allison Tam> ;Pediatric Clinics of North America. 2023 Oct 1
• 2 citations
  Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.
  Hadley Stevens Smith, Bart S Ferket, Bruce D Gelb, Lucia Hindorff, Kathleen D Ferar, Mary E Norton, Nuriye Sahin-Hodoglugil, Anne Slavotinek, Kristen Hasmiller Lich, J...> ;Pediatrics. 2023 Aug 1
• 8 citations
  Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
  Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy M...> ;NPJ Genomic Medicine. 2023 May 26
• Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.
  Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W Patrick Devine, Sara L Ackerman, Barbara A Koenig, Pui-...> ;Medrxiv. 2023 May 24
• Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study.
  Anne Slavotinek, Hannah Prasad, Simon Outram, Sarah Scollon, Shannon Rego, Tiffany Yip, Hannah Hoban, Kate M Foreman, Whitley Kelley, Candice Finnila, Jonathan Berg, P...> ;Genetics in Medicine. 2023 Sep 1
• Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
  Jessica R C Priestley, Ashish R Deshwar, Harsha Murthy, Maria D D'Agostino, Lucie Dupuis, Balram Gangaram, Christopher Gray, Rebekah Jobling, Emanuela Pannia, Konrad P...> ;Genetics in Medicine. 2023 Aug 1
• 2 citations
  Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
  Rebecca Truty, Susan Rojahn, Karen Ouyang, Curtis Kautzer, Michael Kennemer, Daniel Pineda-Alvarez, Britt Johnson, Amanda Stafford, Lina Basel-Salmon, Sulagna Saitta, ...> ;American Journal of Human Genetics. 2023 Apr 6
• Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
  Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara...> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome.
  Dima Qu'd, Lauren M Schmitt, Amber Leston, Jacqueline R Harris, Anne Slavotinek, Ilka Riddle, Diana S Brightman, Brittany N Simpson> ;Frontiers in Genetics. 2023 Jan 1
• 2 citations
  Retinopathy and optic atrophy in a case of-related primary coenzyme Qdeficiency.
  Jeannette Y Stallworth, David R Blair, Anne Slavotinek, Anthony T Moore, Jacque L Duncan, Alejandra G de Alba Campomanes> ;Ophthalmic Genetics. 2023 Oct 1
• 7 citations
  Targeting the Complement-Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy.
  Vyoma Snehal Trivedi, Albert Frank Magnusen, Reena Rani, Luca Marsili, Anne Michele Slavotinek, Daniel Ray Prows, Robert James Hopkin, Mary Ashley McKay, Manoj Kumar P...> ;International Journal of Molecular Sciences. 2022 Nov 18
• 4 citations
  Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
  Giulia Fasano, Valentina Muto, Francesca Clementina Radio, Martina Venditti, Niloufar Mosaddeghzadeh, Simona Coppola, Graziamaria Paradisi, Erika Zara, Farhad Bazgir, ...> ;Nature Communications. 2022 Nov 11
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