AllisonChung YanTamMD

PubMed

• EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
  Christin S Adamo, Aude Beyens, Alvise Schiavinato, Douglas R Keene, Sara F Tufa, Matthias Mörgelin, Jürgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, Lore...> ;American Journal of Human Genetics. 2022 Dec 1
• 6 citations
  Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome
  Felicia Cao, Linchao Lu, Steven A. Abrams, Keli M. Hawthorne, Allison Tam, Weidong Jin, Brian Dawson, Roman J. Shypailo, Hao Liu, Brendan Lee, Sandesh C.S. Nagamani, L...> ;Human Molecular Genetics. 2017 Aug 15
• 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
• Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.
  Sandesh C S Nagamani, Umang Agarwal, Allison Tam, Mahshid Azamian, Ann McMeans, Inka C Didelija, Mahmoud A Mohammad, Juan C Marini> ;Genetics in Medicine. 2021 Nov 1
• 1 citations
  Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
  Dong Li, Michael E. March, Paola Fortugno, Liza L Cox, Leticia S. Matsuoka, Rosanna Monetta, Christoph Seiler, Louise C. Pyle, Emma Bedoukian, María José Sánchez-Soler...> ;Human Genetics. 2021 Apr 3
• 3 citations
  De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
  Julien Buratti, Lei Ji, Boris Keren, Youngha Lee, Stephanie Booke, Serkan Erdin, Soo Yeon Kim, Timothy Blake Palculict, Vardiella Meiner, Jong Hee Chae, Christopher Ge...> ;Journal of Medical Genetics. 2021 Mar 1
• 24 citations
  Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.
  Allison Tam, Noura S. AlDhaheri, Krupa Mysore, Mary Elizabeth M. Tessier, John A. Goss, Luis A. Fernandez, Anthony M. D'Alessandro, Jessica Scott Schwoerer, Gregory M....> ;American Journal of Medical Genetics. Part A. 2019 Jun 1
• 20 citations
  Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.
  Mahim Jain, Allison Tam, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, Jeffrey P. Krischer, Mary A. Mullins, Suni...> ;Genetics in Medicine. 2019 Feb 1
• 23 citations
  A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.
  Allison Tam, Shan Chen, Evan Schauer, Ingo Grafe, Venkata Bandi, Jay R Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, Jef...> ;Clinical Genetics. 2018 Sep 24
• 3 citations
  Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1.
  Allison Tam, Joseph M. Sliepka, Sunil Bellur, Collin D. Bray, Christie M. Lincoln, Sandesh C.S. Nagamani> ;Clinical Imaging. 2018 Sep 1
• 16 citations
  A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
  Elizabeth E. Palmer, Raman Kumar, Christopher T. Gordon, Marie Shaw, Laurence Hubert, Renee Carroll, Marlène Rio, Lucinda Murray, Melanie Leffler, Tracy Dudding-Byth, ...> ;American Journal of Human Genetics. 2017 Dec 7
• 5 citations
  A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.
  Sandesh C S Nagamani, Umang Agarwal, Allison Tam, Mahshid Azamian, Ann McMeans, Inka C Didelija, Mahmoud A Mohammad, Juan C Marini> ;Genetics in Medicine. 2018 Jul 1
• 2 citations
  Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion
  Allison Tam, Kit Shan Lee, Sansan Lee, William Burkhalter, Lucio U. Pascua, Thomas P. Slavin> ;Case reports in genetics. 2013 Jul 1
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