-
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Mov Disord. 2024 Jun 20.
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. PMID: 38899514.
View in:
PubMed Mentions:
-
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 Oct 23; 8(1):34.
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. PMID: 37872195; PMCID: PMC10593851.
View in:
PubMed Mentions:
-
Genetics in Pediatric Practice. Pediatr Clin North Am. 2023 Oct; 70(5):xvii-xix.
Slavotinek A, Simpson B, Tam A. PMID: 37704358.
View in:
PubMed Mentions: Fields:
-
Essential Pieces to the Genetics Puzzle: Family History and Dysmorphology Exam. Pediatr Clin North Am. 2023 10; 70(5):1047-1056.
Tam A. PMID: 37704346.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 May 26; 8(1):10.
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. PMID: 37236975; PMCID: PMC10220040.
View in:
PubMed Mentions:
7
-
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. Am J Hum Genet. 2022 12 01; 109(12):2230-2252.
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. PMID: 36351433; PMCID: PMC9748297.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansAnimals
-
Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees. Am J Med Genet A. 2022 07; 188(7):1997-2004.
Chenbhanich J, Slavotinek A, Tam A. PMID: 35338572; PMCID: PMC9082060.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansPHPublic Health
-
Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genet Med. 2021 Nov; 23(11):2227.
Nagamani SCS, Agarwal U, Tam A, Azamian M, McMeans A, Didelija IC, Mohammad MA, Marini JC. PMID: 33958751.
View in:
PubMed Mentions:
-
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome. Hum Genet. 2021 Jul; 140(7):1061-1076.
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. PMID: 33811546; PMCID: PMC9245547.
View in:
PubMed Mentions:
-
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. J Med Genet. 2021 03; 58(3):205-212.
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. PMID: 32430360.
View in:
PubMed Mentions:
-
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy. Am J Med Genet A. 2019 06; 179(6):1015-1019.
Tam A, AlDhaheri NS, Mysore K, Tessier ME, Goss J, Fernandez LA, D'Alessandro AM, Schwoerer JS, Rice GM, Elsea SH, Scaglia F. PMID: 30864297.
View in:
PubMed Mentions:
15 Fields:
Translation:
Humans
-
A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clin Genet. 2018 12; 94(6):502-511.
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. PMID: 30152014; PMCID: PMC6235719.
View in:
PubMed Mentions:
-
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med. 2019 02; 21(2):275-283.
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. PMID: 29970925; PMCID: PMC6320321.
View in:
PubMed Mentions:
-
Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1. Clin Imaging. 2018 Sep - Oct; 51:160-163.
Tam A, Sliepka JM, Bellur S, Bray CD, Lincoln CM, Nagamani SCS. PMID: 29787982; PMCID: PMC6138553.
View in:
PubMed Mentions:
-
Genome Editing in Neuroepithelial Stem Cells to Generate Human Neurons with High Adenosine-Releasing Capacity. Stem Cells Transl Med. 2018 Jun; 7(6):477-486.
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. PMID: 29589874; PMCID: PMC5980162.
View in:
PubMed Mentions:
-
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. Am J Hum Genet. 2017 Dec 07; 101(6):995-1005.
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. PMID: 29198722; PMCID: PMC5812890.
View in:
PubMed Mentions:
-
A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genet Med. 2018 07; 20(7):708-716.
Nagamani SCS, Agarwal U, Tam A, Azamian M, McMeans A, Didelija IC, Mohammad MA, Marini JC. PMID: 29693650; PMCID: PMC5924481.
View in:
PubMed Mentions:
-
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. Hum Mol Genet. 2017 08 15; 26(16):3046-3055.
Cao F, Lu L, Abrams SA, Hawthorne KM, Tam A, Jin W, Dawson B, Shypailo R, Liu H, Lee B, Nagamani SCS, Wang LL. PMID: 28486640; PMCID: PMC5886079.
View in:
PubMed Mentions:
-
Bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13.3 interstitial deletion. Case Rep Genet. 2013; 2013:149085.
Tam A, Lee KS, Lee S, Burkhalter W, Pascua LU, Slavin TP. PMID: 23936691; PMCID: PMC3713326.
View in:
PubMed Mentions: