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Page 1
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Ganetzky RD, Bloom K, Ahrens-Nicklas R, Edmondson A, Deardorff MA, Bennett MJ, Ficicioglu C. Ganetzky RD, et al. JIMD Rep. 2016;30:33-37. doi: 10.1007/8904_2016_538. Epub 2016 Feb 27. JIMD Rep. 2016. PMID: 26920905 Free PMC article.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.
Priestley JRC, Alharbi H, Callahan KP, Guzman H, Payan-Walters I, Smith L, Ficicioglu C, Ganetzky RD, Ahrens-Nicklas RC. Priestley JRC, et al. Among authors: ganetzky rd. Int J Neonatal Screen. 2020 Jun;6(2):39. doi: 10.3390/ijns6020039. Epub 2020 May 16. Int J Neonatal Screen. 2020. PMID: 32832707 Free PMC article.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE. Szigety KM, et al. Pediatrics. 2022 Jul 1;150(1):e2021054520. doi: 10.1542/peds.2021-054520. Pediatrics. 2022. PMID: 35642503 Free PMC article.
Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy.
Wongkittichote P, Cook EB, Reynoso Santos FJ, Ahrens-Nicklas RC, Hong X, Ganetzky RD. Wongkittichote P, et al. Among authors: ganetzky rd. J Appl Lab Med. 2024 Mar 1;9(2):404-407. doi: 10.1093/jalm/jfad060. J Appl Lab Med. 2024. PMID: 37883603 No abstract available.
Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.
Nomakuchi TT, Teferedegn EY, Li D, Muirhead KJ, Dubbs H, Leonard J, Muraresku C, Sergio E, Arnold K, Pizzino A, Skraban CM, Zackai EH, Wang K, Ganetzky RD, Vanderver AL, Ahrens-Nicklas RC, Bhoj EJK. Nomakuchi TT, et al. Among authors: ganetzky rd. Am J Med Genet A. 2024 Dec;194(12):e63817. doi: 10.1002/ajmg.a.63817. Epub 2024 Jul 19. Am J Med Genet A. 2024. PMID: 39031459
80 results