DavidAStevensonMD

PubMed

• Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting.
  David A Stevenson, Linbo Yu, Beatriz Anguiano, Carlos J Suarez, Schildt, A.> ;American Journal of Medical Genetics. Part A. 2024 Apr 1
• Two epilepsy-associated variants in KCNA2 (K1.2) at position H310 oppositely affect channel functional expression.
  Teresa Mínguez-Viñas, Varsha Prakash, Kaiqian Wang, Sarah H Lindström, Serena Pozzi, Stuart A Scott, Elizabeth Spiteri, David A Stevenson, Euan A Ashley, Cecilia Gunna...> ;The Journal of Physiology. 2023 Dec 1
• 1 citations
  Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1.
  Andrea M Gross, Scott R Plotkin, Nelson B Watts, Michael J Fisher, Laura J Klesse, Andrés J Lessing, Miranda L McManus, A Noelle Larson, Beverly Oberlander, Jonathan J...> ;Clinical Trials. 2024 Feb 1
• Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.
  Ryan W Gates, Bryn D Webb, David A Stevenson, Ethylin Wang Jabs, Colette DeFilippo, Maura R Z Ruzhnikov, Christina G Tise> ;American Journal of Medical Genetics. Part A. 2023 Nov 1
• 3 citations
  Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
  Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cro...> ;American Journal of Medical Genetics. Part A. 2023 Jul 1
• 2 citations
  Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic cr...
  Jamie McDonald, Jenna Kornish, David A Stevenson, Andrea Hanson-Kahn, Heather Balch, John James, Hetanshi Naik, Kevin J Whitehead> ;Genetics in Medicine. 2023 Aug 1
• Papillomas of Costello syndrome are not associated with human papillomavirus infection in a small case series.
  Gerilyn M Olsen, Luke Johnson, Pau Castel, David A Stevenson, Kevin White, Yvonne E Chiu, Alfons Krol, Dawn H Siegel> ;Journal of the American Academy of Dermatology. 2023 Aug 1
• Single Versus Multigene Testing for Hereditary Hearing Loss: Use and Costs in a Commercially Insured Cohort.
  Peter K Moon, David A Stevenson, Kay W Chang, Qian, Z., Z Jason Qian> ;Otolaryngology--Head and Neck Surgery. 2023 Jun 1
• 2 citations
  Bone health in RASopathies.
  David A Stevenson, Germana Viscogliosi, Chiara Leoni> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2022 Dec 1
• 24 citations
  MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.
  Peter M K de Blank, Andrea M Gross, Srivandana Akshintala, Jaishri O Blakeley, Gideon Bollag, Ashley Cannon, Eva Dombi, Jason Fangusaro, Bruce D Gelb, Darren Hargrave,...> ;Neuro-Oncology. 2022 Nov 2
• 3 citations
  Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis.
  Wesley Y Ho, Ellyn Farrelly, David A Stevenson> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• 4 citations
  Factors associated with the time to complete clinical exome sequencing in a pediatric patient population.
  Gabriella Lee, Linbo Yu, Carlos J Suarez, David A Stevenson, Albee Ling, Lindsay Killer> ;Genetics in Medicine. 2022 Oct 1
• 50 Years Ago in TheJournalofPediatrics: Advances in the Understanding of Prader-Willi syndrome.
  Diane E J Stafford, David A Stevenson> ;The Journal of Pediatrics. 2022 Aug 1
• 60 citations
  Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
  Scott R Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A Avery, Jaishri O Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J Fisher, Jan M ...> ;Genetics in Medicine. 2022 Sep 1
• 10 citations
  The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
  Maria I Kontaridis, Amy E Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E Axelrad, Annette Bakker, Anton M Bennett, Alberto B...> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
• 1 citations
  A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants.
  Caroline E Rassbach, David A Stevenson, Niehaus, A.> ;American Journal of Medical Genetics. Part A. 2022 Aug 1
• 5 citations
  Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
  Claire Forde, Emma Burkitt-Wright, Peter D Turnpenny, Eric Haan, John Ealing, Sahar Mansour, Muriel Holder, Nayana Lahiri, Abhijit Dixit, Annie Procter, Laurence Pacot...> ;European Journal of Human Genetics. 2022 Mar 1
• Response to Hamosh et al.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Sep 2
• 22 citations
  Arteriovenous Malformations-Current Understanding of the Pathogenesis with Implications for Treatment.
  Katharina Schimmel, Khadem Ali, Serena Y. Tan, Joyce M.C. Teng, Huy M. Do, Gary K. Steinberg, David A. Stevenson, Edda Spiekerkoetter> ;International Journal of Molecular Sciences. 2021 Aug 21
• 1 citations
  Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2.
  Srivandana Akshintala, Nashwa Khalil, Kaleb Yohay, Alona Muzikansky, Jeffrey C. Allen, Anna Yaffe, Andrea M. Gross, Michael Fisher, Jaishri O. Blakeley, Beverly Oberla...> ;Neurology. 2021 Jul 6
• Corrigendum: Differential requirements for MDM2 E3 activity during embryogenesis and in adult mice.
  Timothy J. Humpton, Koji Nomura, Julia Weber, Helge M. Magnussen, Andreas K. Hock, Colin Nixon, Sandeep Dhayade, David A. Stevenson, Danny T. Huang, Douglas Strathdee,...> ;Genes & Development. 2021 Jul 1
• 242 citations
  Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
  Eric Legius, Ludwine Messiaen, Pierre Wolkenstein, P Pancza, Robert A. Avery, Yemima Berman, J. Blakeley, Dusica Babovic-Vuksanovic, Karin Soares Gonçalves Cunha, Rosa...> ;Genetics in Medicine. 2021 May 19
• 2 citations
  Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma
  D. Gareth Evans, Ludwine Messiaen, William D. Foulkes, Rachel E A Irving, Alexandra Murray, Cristina Perez-Becerril, Barbara Rivera, Donna M. McDonald-McGinn, David A....> ;Genetics in Medicine. 2021 Apr 20
• 17 citations
  RAC1B modulates intestinal tumourigenesis via modulation of WNT and EGFR signalling pathways
  Victoria Gudiño, Sebastian Öther-Gee Pohl, Caroline V. Billard, Patrizia Cammareri, Alfonso Bolado, Stuart Aitken, David A. Stevenson, Adam E. Hall, Mark Agostino, Joh...> ;Nature Communications. 2021 Apr 20
• 8 citations
  Defective apoptotic cell contractility provokes sterile inflammation, leading to liver damage and tumour suppression.
  Linda Julian, Gregory Naylor, Grant R Wickman, Nicola Rath, Giovanni Castino, David A. Stevenson, Sheila Bryson, June Munro, Lynn McGarry, Margaret Mullin, Alistair Ri...> ;Elife. 2021 Apr 19
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Journal Articles

• Proceedings of the Fifth International RASopathies Symposium: When Development and Cancer Intersect  
  David A Stevenson, Katherine A Rauen, Bruce D Gelb, Corinne M Linardic, Suma Shankar, Brigitte C Widemann, Karen Gripp, Maxim Itkin, American Journal of Medical Genetics Part A