Publications

1. Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M, Adams DR, Hisama FM, Shashi V, Undiagnosed Diseases Network. Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. Am J Med Genet A. 2025 Apr; 197 (4):e63956 Epub 2024 Dec 04
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2. Lessel I, Baresic A, Chinn IK, May J, Goenka A, Chandler KE, Posey JE, Afenjar A, Averdunk L, Bedeschi MF, Besnard T, Brager R, Brick L, Brugger M, Brunet T, Byrne S, Calle-Martin O, Capra V, Cardenas P, Chappe C, Chong HJ, Cogne B, Conboy E, Cope H, Courtin T, Deb W, Dilena R, Dubourg C, Elgizouli M, Fernandes E, Fitzgerald KK, Gangi S, George-Abraham JK, Gucsavas-Calikoglu M, Haack TB, Hadonou M, Hanker B, Huning I, Iascone M, Isidor B, Jarvela I, Jin JJ, Jorge AAL, Josifova D, Kalinauskiene R, Kamsteeg EJ, Keren B, Kessler E, Kolbel H, Kozenko M, Kubisch C, Kuechler A, Leal SM, Leppala J, Luu SM, Lyon GJ, Madan-Khetarpal S, Mancardi M, Marchi E, Mehta L, Menendez B, Morel CF, Harasink SM, Nevay DL, Nigro V, Odent S, Oegema R, Pappas J, Pastore MT, Perilla-Young Y, Platzer K, Powell-Hamilton N, Rabin R, Rekab A, Rezende RC, Robert L, Romano F, Scala M, Poths K, Schrauwen I, Sebastian J, Short J, Sidlow R, Sullivan J, Szakszon K, Tan QKG, Wagner M, Wieczorek D, Yuan B, Maeding N, Strunk D, Begtrup A, Banka S, Lupski JR, Tolosa E, Lessel D, Undiagnosed Diseases Network. DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. Am J Hum Genet. 2025 Feb 6; 112 (2):394-413 Epub 2025 Jan 10
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3. Banks SA, Abeykoon JP, Rech K, Morris P, Tan QKG, Veres LN, Schoonover KL, Aksamit AJ, Keating GF, Kissoon N, Sominidi Damodaran S, Maredia HS, Davidge-Pitts CJ, Villasboas JC, Go R, Tobin WO, Mayo Clinic-University of Alabama at Birmingham Histiocytosis Working Group. SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case Report. Neurol Genet. 2024 Dec; 10(6):e200197. Epub 2024 Oct 14.
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4. Hassan S, Anouti A, Tan QK, Wangensteen K, Aqul A. Liver transplantation for pediatric genetic and metabolic disorders. Liver Transpl. 2024 Aug 23. [Epub ahead of print]
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5. Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Mol Genet Metab. 2024 Aug; 142(4):108509. Epub 2024 Jun 06.
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6. Cocanougher BT, Liu SW, Francescatto L, Behura A, Anneling M, Jackson DG, Deak KL, Hornik CD, ElMallah MK, Pizoli CE, Smith EC, Tan KGQ, McDonald MT. The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt. HGG Adv. 2024 Jul 18; 5 (3):100288 Epub 2024 Apr 01
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7. Schoch K, McConkie-Rosell A, Walley N, Bhambhani V, Feyma T, Pizoli CE, Smith EC, Tan QK, Shashi V, Undiagnosed Diseases Network. Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1. Orphanet J Rare Dis. 2023 Sep 4; 18 (1):269 Epub 2023 Sept 04
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8. Gumusderelioglu S, Resch L, Brock T, Luxton GWG, Cope H, Tan QK, Hopkins C, Starr DA, Undiagnosed Diseases Network. A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4. Dis Model Mech. 2023 Aug 1; 16 (8) Epub 2023 Aug 29
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9. Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC, Undiagnosed Disease Network , Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 Apr 19; 146(4):1420-1435.
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10. Beaman M, Fisher K, McDonald M, Tan QKG, Jackson D, Cocanougher BT, Landstrom AP, Hobbs CA, Cotten M, Cohen JL. Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline. J Pers Med. 2022 Nov 18; 12 (11)
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11. Hannah WB, Ryan K, Pendyal S, Burrow TA, Harley SE, Cordell M, McCall CM, Mavis AM, Tan QK, Kishnani PS. Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly. Am J Med Genet A. 2022 Nov; 188 (11):3364-3368 Epub 2022 Aug 16
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12. Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogne B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, Wangler MF, Yamamoto S, Bellen HJ, Tan QK, Undiagnosed Diseases Network. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 Sep 2; 108 (9):1669-1691 Epub 2021 July 26
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13. Kaczorowski JA, Doty N, Shrewsbury A, Doyle AE, Tan QK, Braaten E. Neuropsychological Profile of an Adolescent Female With Ectodermal Dysplasia With Hypohidrosis. Cogn Behav Neurol. 2021 Sep 2; 34 (3):212-219 Epub 2021 Sept 02
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14. Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN, Undiagnosed Diseases Network//Genomics England Research Consortium. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 Jul; 53 (7):1006-1021 Epub 2021 July 01
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15. Schoch K, Tan QK, Stong N, Deak KL, McConkie-Rosell A, McDonald MT, Goldstein DB, Jiang YH, Shashi V, Undiagnosed Diseases Network. Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Genet Med. 2020 Jul; 22 (7):1269-1275 Epub 2020 May 05
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16. Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schluter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar; 41 (3):632-640 Epub 2019 Nov 25
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17. McConkie-Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer CGS, Pena L, Jiang YH, Daniels N, Walley N, Tan KG, Hooper SR, Shashi V, Undiagnosed Diseases Network. The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. Clin Genet. 2019 Dec; 96 (6):521-531 Epub 2019 Oct 08
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18. Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB, Undiagnosed Diseases Network. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Genet Med. 2019 Jan; 21 (1):161-172 Epub 2018 June 15
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19. Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Shashi V, Pena LDM, Undiagnosed Diseases Network. Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. Cold Spring Harb Mol Case Stud. 2018 Oct; 4 (5) Epub 2018 Oct 01
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20. Tan QK, McConkie-Rosell A, Juusola J, Gustafson KE, Pizoli CE, Buckley AF, Jiang YH. The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. Cold Spring Harb Mol Case Stud. 2017 Nov; 3 (6) Epub 2017 Nov 21
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21. Tan QK, Cardona DM, Rehder CW, McDonald MT. Identification of EPCAM mutation: clinical use of microarray. Clin Case Rep. 2017 Jun; 5 (6):980-985 Epub 2017 May 10
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22. Louie RJ, Tan QK, Gilner JB, Rogers RC, Younge N, Wechsler SB, McDonald MT, Gordon B, Saski CA, Jones JR, Chapman SJ, Stevenson RE, Sleasman JW, Friez MJ. Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. Am J Med Genet A. 2017 May; 173 (5):1219-1225 Epub 2017 Mar 20
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23. Tan QK, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LD, Deimling MA, Freemark MS, Kishnani PS. Premature pubarche in children with Pompe disease. J Pediatr. 2015 Apr; 166 (4):1075-8.e1 Epub 2015 Feb 14
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24. Green JV, Orsborn KI, Zhang M, Tan QK, Greis KD, Porollo A, Andes DR, Long Lu J, Hostetter MK. Heparin-binding motifs and biofilm formation by Candida albicans. J Infect Dis. 2013 Nov 15; 208 (10):1695-704 Epub 2013 July 31
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25. Tan QK, Cheah SM, Dearmey SM, Kishnani PS. Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention. Mol Genet Metab. 2013 Feb; 108 (2):142-4 Epub 2012 Nov 29
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26. Chae E, Tan QK, Hill TA, Irish VF. An Arabidopsis F-box protein acts as a transcriptional co-factor to regulate floral development. Development. 2008 Apr; 135 (7):1235-45 Epub 2008 Feb 20
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27. Tan QK, Irish VF. The Arabidopsis zinc finger-homeodomain genes encode proteins with unique biochemical properties that are coordinately expressed during floral development. Plant Physiol. 2006 Mar; 140 (3):1095-108 Epub 2006 Jan 20
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28. Lamb RS, Hill TA, Tan QK, Irish VF. Regulation of APETALA3 floral homeotic gene expression by meristem identity genes. Development. 2002 May; 129 (9):2079-86
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