Selected Publications

Dines JN, Golden-Grant KG, LaCroix A, Muir A, McWalter K, Cho M, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C , Karger L, Helbig I, Pendziwiat M, Muhle H, Sun A, Mefford HC : TANGO2: Expanding the clinical phenotype and spectrum of pathogenic variants Genetics in Medicine 2018 Notes: Accepted for publication

Bruun T, Sidky S, Bandeira OA, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, MD7, Luísa D, Nassogne MC, O’Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S : Treatment outcome of creatine transporter deficiency: international retrospective cohort study Metabolic Brain Disease 33(3): 875-884, June 2018.

Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Tresarrieu PF, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, David Tregouët3, Raby B, Chung WK, Morange PE, D. Sean Froese DS, Baumgartner M, Benoist JF, Ficicioglu C, Marchand V, Yuri Motorine Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS : APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients Nat Commun. 9(1): 67, February 2018.

Ficicioglu C, Giugliani R, Harmatz P, Mendelsohn N, Jego V, Parini R : Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS) American Journal of Medical Genetics Part A. 176(2): 301-310, February 2018.

Ahrens-Nicklas R, Ganetzky RD, Rush PW, Conway RL, Ficicioglu C : Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. Journal of Inherited Metabolic Disease 2018 Notes: Accepted for publication

Berry S, Nicola Longo N, Diaz GA, McCandless SE, Smith W, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J: Safety and Efficacy of Glycerol Phenylbutyrate for Management of Urea Cycle Disorders in Patients Aged 2 Months to 2 Years. Molecular Genetics and Metabolism 122(3): 46-53, November 2017.

Ahrens-Nicklas RC, Whitaker AM, Kaplan P, Cuddapah S, Burfield J, Blair B, Brochi L, Yudkoff M, Ficicioglu C.: Efficacy of early treatment in patients with Cobalamin C disease identified by newborn screening, a sixteen-year experience. Genetics in Medicine 19(8): 926-935, August 2017.

Whitaker, Ashley M., Thomas, Nina Hattiangadi, Krivitzky, Lauren S., Ficicioglu, Can H.: Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening. Applied Neuropsychology: Child. Routledge, 10(1): 143-149, Jan 2017.

Ahrens-Nicklas RC, Pyle LC, Ficicioglu C: Morbidity and Mortality Among Exclusively Breastfed Neonates With Medium Chain Acyl-CoA Dehydrogenase Deficiency Genetics in Medicine 18(12): 1315-19, December 2016 Notes: The winner of the 2017 Richard King Award for the best article published by a trainee in GIM in 2016.

Bobby G. Ng, Shiryaev S, Rymen D, Eklund E, Raymond K, Kircher M, Abdenur J, Alehan F, Midrob A, Bamshad M, Barone R, Berry G, Brumbaugh, Buckingham K, Clarkson K, Cole S, O'Connor S, Cooper GM, Van Coster R, Demmer L, Diogo L, Fay A, Ficicioglu C, Fiumara , Gahl WA, Ganetzky G, Goel H, Harshman L, He M, Jaeken J, Lachlan K , Lam C , Yaplito-Lee J, Nickerson D , Peters H, Race V, Régal L, Rush J, Rutledge S, Shendure S, Sparks S, Trapane P, Sanchez-Valle A, Vilain E, Waechter C, Wang R, Wolfe L, Wong DA, Wood T, Yang AC , Matthijs G , Freeze HH: ALG1-CDG: Clinical and molecular characterization of 39 unreported patients. Human Mutations 37(7): 653-60, Jul 2016.