AnneM.SlavotinekMDPh.D

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, Dominique Braun, Céline B Gerber, Harald Gaspar, Anna M Kopps, Claudine Rieubland, Anna C E Hu...> ;American Journal of Medical Genetics. Part A. 2024 Feb 29
• 1 citations
  Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.
  Mavura, Y., Sahin-Hodoglugil, N., Hodoglugil, U., Kvale, M., Martin, P., Van Ziffle, J., Devine, W., Ackerman, S., Koenig, B., Norton, M., Risch, N., Kwok, P., Slavoti...> ;NPJ Genomic Medicine. 2024 Jan 3
• 1 citations
  Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
  Li, D., Wang, Q., Bayat, A., Battig, M., Zhou, Y., Bosch, D., van Haaften, G., Granger, L., Petersen, A., Pérez-Jurado, L., Aznar-Laín, G., Aneja, A., Hancarova, M., B...> ;The Journal of Clinical Investigation. 2024 Jan 2
• Author Correction: 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 Oct 23
• Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment: A Cumulative 29-Year Safety Update.
  Mitchell F Brin, Russell S Kirby, Anne Slavotinek, Aubrey Manack Adams, Lori Parker, Ahunna Ukah, Lavinia Radulian, Monica R P Elmore, Larisa Yedigarova, Irina Yushmanova> ;Neurology. 2023 Jul 11
• 4 citations
  POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
  Kelly Smallwood, Kristin E N Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P Adam, Amber Begtrup, Debora R Ber...> ;American Journal of Human Genetics. 2023 May 4
• 2 citations
  TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
  Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, Tiffany Yip, Anne Slavotinek, Jessica L Tenney> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 3 citations
  Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
  Kevin M Bowling, Michelle L Thompson, Melissa A Kelly, Sarah Scollon, Anne M Slavotinek, Bradford C Powell, Brian M Kirmse, Laura G Hendon, Kyle B Brothers, Bruce R Ko...> ;Genome Medicine. 2022 Nov 21
• 1 citations
  Predicting genes from phenotypes using human phenotype ontology (HPO) terms.
  Anne Slavotinek, Hannah Prasad, Tiffany Yip, Shannon Rego, Hannah Hoban, Mark Kvale> ;Human Genetics. 2022 Nov 1
• 3 citations
  Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
  Michelle Adutwum, Anna Hurst, Ghayda Mirzaa, Jessica D Kushner, Caleb Rogers, Nahla Khalek, Ana G Cristancho, Natalie Burrill, Michael E Seifert, Maria I Scarano, Rhon...> ;Clinical Genetics. 2023 Jan 1
• Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype.
  Carolina I Galarreta, Colleen Kennedy, David R Blair, Anne Slavotinek> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• 7 citations
  Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.
  Hannah Kortbawi, Elizabeth Ames, Amanda Pritchard, Patrick Devine, Jessica van Ziffle, Anne Slavotinek> ;American Journal of Medical Genetics. Part A. 2022 Aug 1
• 2 citations
  De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
  Kerith-Rae Dias, Colleen M Carlston, Laura E R Blok, Lachlan De Hayr, Urwah Nawaz, Carey-Anne Evans, Pinar Bayrak-Toydemir, Stephanie Htun, Ying Zhu, Alan Ma, Sally An...> ;Genetics in Medicine. 2022 Sep 1
• 3 citations
  Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods.
  Bart S Ferket, Zach Baldwin, Priyanka Murali, Akila Pai, Kathleen F Mittendorf, Heidi V Russell, Flavia Chen, Frances L Lynch, Kristen Hassmiller Lich, Lucia A Hindorf...> ;Genetics in Medicine. 2022 Oct 1
• 1 citations
  Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees.
  Jirat Chenbhanich, Anne Slavotinek, Allison Tam> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• Exome Sequencing Identifies a NovelVariant in a Patient with Witteveen-Kolk Syndrome.
  Monica Penon-Portmann, Colleen M Carlston, Pierre-Marie Martin, Anne Slavotinek> ;Molecular Syndromology. 2022 Jul 1
• 2 citations
  Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.
  Balram Gangaram, W Patrick Devine, Anne Slavotinek> ;European Journal of Medical Genetics. 2022 Jun 1
• 6 citations
  Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.
  Shannon Rego, Hannah Hoban, Simon Outram, Astrid N Zamora, Flavia Chen, Nuriye Sahin-Hodoglugil, Beatriz Anguiano, Matthew Norstad, Tiffany Yip, Billie Lianoglou, Tere...> ;Genetics in Medicine. 2022 Jun 1
• 8 citations
  S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome.
  Fuying Chen, Cheng Ni, Xiaoxiao Wang, Ruhong Cheng, Chaolan Pan, Yumeng Wang, Jianying Liang, Jia Zhang, Jinke Cheng, Y Eugene Chin, Yi Zhou, Zhen Wang, Yiran Guo, She...> ;EMBO Molecular Medicine. 2022 May 9
• 4 citations
  Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
  Korbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert, Jozef Hertecant, Patricia L Kannouche, Caroline...> ;Human Molecular Genetics. 2022 Sep 10
• Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
  Emily W Modlin, Anne M Slavotinek, Thomas N Darling, Stanley Lipkowitz, Frederic G Barr, Pamela N Munster, Leslie G Biesecker, Christopher A Ours> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• 7 citations
  Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
  Anne Slavotinek, Mathilde Lefebvre, Anne-Claire Brehin, Christel Thauvin, Sophie Patrier, Teresa N Sparks, Mary Norton, Jingwei Yu, Eric Huang> ;European Journal of Medical Genetics. 2022 Feb 1
• 4 citations
  US private payers’ perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Co...
  Kathryn A. Phillips, Julia R. Trosman, Michael P. Douglas, Bruce D. Gelb, Bart S. Ferket, Lucia A. Hindorff, Anne Slavotinek, Jonathan S. Berg, Heidi V. Russell, Beth ...> ;Genetics in Medicine. 2021 Nov 30
• 14 citations
  Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Journal of Medical Genetics. 2021 Nov 23
• 3 citations
  Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
  Eden V Haverfield, Edward D Esplin, Sienna J Aguilar, Kathryn E Hatchell, Kelly E Ormond, Andrea Hanson-Kahn, Paldeep S Atwal, Sarah Macklin-Mantia, Stephanie Hines, C...> ;BMC Medicine. 2021 Nov 3
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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