Allison Tam, MD

  1. Gallagher ER, Chow P, Mills MR, Perry H, Tam AC, Rosenbluth G, Matthews M, Shamshoni JK, Schweitzer DN, Gutierrez YR, Hing A. Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2024. PMID: 39155612


  2. Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H, Maroofian R. Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Movement disorders : official journal of the Movement Disorder Society 2024. PMID: 38899514


  3. Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ genomic medicine 2023. PMID: 37872195


  4. Slavotinek A, Simpson B, Tam A. Genetics in Pediatric Practice. Pediatric clinics of North America 2023. PMID: 37704358


  5. Tam A. Essential Pieces to the Genetics Puzzle: Family History and Dysmorphology Exam. Pediatric clinics of North America 2023. PMID: 37704346


  6. Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ genomic medicine 2023. PMID: 37236975


  7. Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. American journal of human genetics 2022. PMID: 36351433


  8. Chenbhanich J, Slavotinek A, Tam A. Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees. American journal of medical genetics. Part A 2022. PMID: 35338572


  9. Nagamani SCS, Agarwal U, Tam A, Azamian M, McMeans A, Didelija IC, Mohammad MA, Marini JC. Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genetics in medicine : official journal of the American College of Medical Genetics 2021. PMID: 33958751


  10. Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sánchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome. Human genetics 2021. PMID: 33811546


  11. Buratti J, Ji L, Keren B, Lee Y, Booke S, Erdin S, Kim SY, Palculict TB, Meiner V, Chae JH, Woods CG, Tam A, Héron D, Cong F, Harel T. De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. Journal of medical genetics 2020. PMID: 32430360


  12. Tam A, AlDhaheri NS, Mysore K, Tessier ME, Goss J, Fernandez LA, D'Alessandro AM, Schwoerer JS, Rice GM, Elsea SH, Scaglia F. Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy. American journal of medical genetics. Part A 2019. PMID: 30864297


  13. Tam A, Chen S, Schauer E, Grafe I, Bandi V, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Byers PH, Sandhaus RA, Durigova M, Glorieux FH, Rauch F, Reid Sutton V, Lee B, Members of the Brittle Bone Disorders Consortium, Rush ET, Nagamani SCS. A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clinical genetics 2018. PMID: 30152014


  14. Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR, , Members of the Brittle Bone Disorders Consortium*,, Nagamani SCS. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genetics in medicine : official journal of the American College of Medical Genetics 2018. PMID: 29970925


  15. Tam A, Sliepka JM, Bellur S, Bray CD, Lincoln CM, Nagamani SCS. Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1. Clinical imaging 2018. PMID: 29787982


  16. Poppe D, Doerr J, Schneider M, Wilkens R, Steinbeck JA, Ladewig J, Tam A, Paschon DE, Gregory PD, Reik A, Müller CE, Koch P, Brüstle O. Genome Editing in Neuroepithelial Stem Cells to Generate Human Neurons with High Adenosine-Releasing Capacity. Stem cells translational medicine 2018. PMID: 29589874


  17. Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschké P, Garrigue A, de Saint Basile G, Kivuva E, DDD Study, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. American journal of human genetics 2017. PMID: 29198722


  18. Nagamani SCS, Agarwal U, Tam A, Azamian M, McMeans A, Didelija IC, Mohammad MA, Marini JC. A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genetics in medicine : official journal of the American College of Medical Genetics 2017. PMID: 29693650


  19. Cao F, Lu L, Abrams SA, Hawthorne KM, Tam A, Jin W, Dawson B, Shypailo R, Liu H, Lee B, Nagamani SCS, Wang LL. Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. Human molecular genetics 2017. PMID: 28486640


  20. Tam A, Lee KS, Lee S, Burkhalter W, Pascua LU, Slavin TP. Bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13.3 interstitial deletion. Case reports in genetics 2013. PMID: 23936691