JamesBennettMD

PubMed

• 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
• 4 citations
  Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations.
  Juliana Bonilla-Velez, Kathryn B. Whitlock, Sheila Ganti, Kaitlyn Zenner, Chi Vicky Cheng, Dana M. Jensen, Minh Hang M. Pham, Ryan M. Mitchell, William B. Dobyns, Rand...> ;International Journal of Pediatric Otorhinolaryngology. 2021 Aug 5
• 84 citations
  Targeted long-read sequencing identifies missing disease-causing variation
  Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P Almanza Fuerte, Catherine R Paschal, Th...> ;American Journal of Human Genetics. 2021 Aug 5
• 2 citations
  CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum
  Amanda S. Freed, Anisha Chandra Schwarz, Brianna K Brei, Sarah V. Clowes Candadai, Jenny Thies, Jean K. Mah, Shilpi Chabra, Leo H. Wang, A. Micheil Innes, James T. Ben...> ;American Journal of Medical Genetics. Part A. 2021 Mar 1
• 63 citations
  A dyadic approach to the delineation of diagnostic entities in clinical genomics.
  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 Jan 7
• Computational fluid dynamics modeling aiding surgical planning in a toddler with Parkes Weber syndrome.
  Josiah M. Peñalver, James T. Bennett, Zoe Nelson, Randall A. Bly, Jonathan A. Perkins, Catherine V. Bull, Alberto Aliseda, Fanette Chassagne, Giridhar M. Shivaram, Ant...> ;Journal of Pediatric Surgery Case Reports. 2021 Jan 6
• 5 citations
  Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
  Sheri A. Poskanzer, Matthew J. Schultz, Coleman T. Turgeon, Noemi Vidal-Folch, Kris Liedtke, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Pier...> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 34 citations
  Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Brain. 2020 Oct 1
• 7 citations
  A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing.
  Danny E. Miller, Audrey Squire, James T. Bennett> ;American Journal of Medical Genetics. Part A. 2020 Mar 1
• 38 citations
  Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
  Robert Behne, Julian Teinert, Miriam Wimmer, Angelica D'Amore, Alexandra K Davies, Joseph M. Scarrott, Kathrin Eberhardt, Barbara Brechmann, Ivy Pin-Fang Chen, Elizabe...> ;Human Molecular Genetics. 2020 Jan 15
• 65 citations
  Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
  Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine A. Bosanko, Dus...> ;Human Mutation. 2020 Jan 1
• 33 citations
  Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.
  Kaitlyn Zenner, Chi Vicky Cheng, Dana M. Jensen, Andrew E. Timms, Giridhar M. Shivaram, Randall A. Bly, Sheila Ganti, Kathryn B. Whitlock, William B. Dobyns, Jonathan ...> ;JCI Insight. 2019 Nov 1
• 51 citations
  Redefining the Etiologic Landscape of Cerebellar Malformations.
  Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson, Ghayda M. Mirzaa, James T. Bennett, Alexander B. Rosenberg, Charles M. Roco, Matthew Hirano, Fatima Abidi, Part...> ;American Journal of Human Genetics. 2019 Sep 5
• 13 citations
  Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
  Kendell R. German, Gail H. Deutsch, Amanda S. Freed, Katrina M. Dipple, Shilpi Chabra, James T. Bennett> ;American Journal of Medical Genetics. Part A. 2019 Mar 3
• 15 citations
  Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges.
  Sarah V. Clowes Candadai, Megan C. Sikes, Jenny Thies, Amanda S. Freed, James T. Bennett> ;Journal of Genetic Counseling. 2019 Apr 1
• 10 citations
  Clinical application of molecular genetics in lymphatic malformations.
  Reema Padia, Kaitlyn Zenner, Randall A. Bly, James T. Bennett, Catherine V. Bull, Jonathan A. Perkins> ;Laryngoscope Investigative Otolaryngology. 2019 Jan 12
• 15 citations
  Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
  Andrew M. Piacitelli, Dana M. Jensen, Heather A. Brandling-Bennett, Megan M. Gray, Maneesh Batra, Juliane Gust, Ameet I. Thaker, Catherine R Paschal, Karen D. Tsuchiya...> ;American Journal of Medical Genetics. Part A. 2018 Jul 31
• 7 citations
  Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis
  Heather M. Byers, Dana M. Jensen, Ian A. Glass, James T. Bennett> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2018 Sep 1
• 79 citations
  Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
  Di Donato N, Andrew E. Timms, Kimberly A. Aldinger, Ghayda M. Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma L. Carvill, Candace...> ;Genetics in Medicine. 2018 Apr 19
• 22 citations
  Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects
  Paul Kruszka, Pranoot Tanpaiboon, Katherine Neas, Kathleen Crosby, Seth I. Berger, Ariel F. Martinez, Yonit A. Addissie, Yupada Pongprot, Rekwan Sittiwangkul, Suchaya ...> ;Journal of Medical Genetics. 2017 Dec 1
• 41 citations
  Clinical and genetic characterization of AP4B1-associated SPG47.
  Darius Ebrahimi-Fakhari, Chi Cheng, Kira A. Dies, Amelia Diplock, Danielle B. Pier, Conor S. Ryan, Brendan C. Lanpher, Jennifer Hirst, Wendy K. Chung, Elisabeth Rosser...> ;American Journal of Medical Genetics. Part A. 2018 Feb 1
• 89 citations
  Genetic disruption of the oncogenic HMGA2 – PLAG1 – IGF2 pathway causes fetal growth restriction
  Walid Abi Habib, Frédéric Brioude, Thomas Edouard, James T. Bennett, Anne Lienhardt-Roussie, Frédérique Tixier, Jennifer Salem, Tony Yuen, Salah Azzi, Yves Le Bouc, Ma...> ;Genetics in Medicine. 2018 Feb 1
• 92 citations
  A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
  Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett, Laura A. Baker, Jessica Tusi, Nina Powell-Hamilton, Deborah L. Stabley, Katia Sol-Church, Andrew E. Timms, Will...> ;American Journal of Medical Genetics. Part A. 2016 Jun 5
• 64 citations
  Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
  James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana M. Jensen, Sarah Collins, Małgorzata J.M. Nowaczyk, Marjorie J. Lindhurst, K...> ;American Journal of Human Genetics. 2016 Mar 3
• 334 citations
  Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA
  Valerie L. Luks, Nolan Kamitaki, Matthew P. Vivero, Wibke Uller, Rashed Rab, Judith V.M.G. Bovée, Kristy L. Rialon, Carlos J. Guevara, Ahmad I. Alomari, Arin K. Greene...> ;The Journal of Pediatrics. 2015 Apr 1
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