1.北京市教委-市基因联合资助重点项目，KZ202210025033，基于 NAD+/SIRT3信号通路探讨烟酰胺在线粒体烟酰胺腺嘌呤二核苷酸缺陷中的机制，2022.01至2024.12，80万，在研，主持

近三年代表性文章：

[1] Xu M, Duan X, Ren X, Liu Z, Chen S, Fang F*. Generation of an iPSC line froma patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation. Stem Cell Res.2021, 20;59:102633. 

[2]Jiang H, Alahmad A, Fu S, Fu X, Liu Z, Han X, Li L, Song T, Xu M, Liu S, WangJ, Albash B, Alaqeel A, Catalina V, Prokisch H, Taylor R W, Mcfarland R, FangF*. Identification and characterisation of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.J InheritMetab Dis. 2021 Dec 6.

[3] Xu M, Kopajtich R, Elstner M, Li H, Liu Z, Wang J,Prokisch H, Fang F*. Identificationof a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome. Mitochondrion,2022, 62: 13-23.

[4] Xu M, Kopajtich R, Elstner M, Wang Z, Liu Z, Wang J,Prokisch H, Fang F*. Identificationof a Novel Variant in MT-CO3 CausingMELAS. Front Genet, 2021, 12: 638749.

[5] Feng W, Zhuo X, Liu Z, Li J, Zhang W, Wu Y, Han T, FangF*. CaseReport: A Variant Non-ketotic Hyperglycinemia with GLRX5 Mutations: Manifestation of Deficiency of Activities of theRespiratory Chain Enzymes. Front Genet, 2021, 12: 605778.

[6] Wang J, Liu Z, Xu M, Han X, Ren C, Yang X, Zhang C, FangF*. Cinical,Metabolic, and Genetic Analysis and Follow-Up of Eight Patients with HIBCH Mutations Presenting WithLeigh/Leigh-Like Syndrome. Front Pharmacol, 2021, 12: 605803.

[7] LiH, Fang F*, Xu M, Liu Z, Zhou J, Wang X, Wang X, Han T. ClinicalAssessments and EEG Analyses of Encephalopathies Associated with Dynamin-1 Mutation. Front Pharmacol,2019, 10: 1454.

[8] Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H,Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL,Prokisch H*, Fang F*. Leighsyndrome: a study of 209 patients at the Beijing Children's Hospital. Ann Neurol. 2022 Jan 30.

[9] Shi Y, Chen G, Sun D, Hu C, Liu Z, Shen D, Wang J,Song T, Zhang W, Li J, Ren X, Han T, Ding C, Wang Y*, Fang F*. Phenotypes and genotypes ofmitochondrial diseases with mtDNA variations in Chinese children: Amulti-center study. Mitochondrion, 2022, 62: 139-150.

[10] Li H, Wang W, Han X, Zhang Y, Dai L, Xu M, Deng J,Ding C, Wang X, Chen C, Yang X*, Fang F*. Clinical Attributes andElectroencephalogram Analysis of Patients With Varying Alpers' SyndromeGenotypes. Front Pharmacol, 2021, 12: 669516.

[11] BanR, Pu C, Fang F*, Shi Q*. Mitochondrial myopathy with a uniquepresentation of facial and bulbar muscle weakness caused by single large scalemitochondrial DNA deletion. Clinical neuropathology, 2021, 40(9): 292-294.

[12]Wang W, Li H, Yan J, Zhang H, Li X, Zheng S, Wang J, Xing Y, Cheng L, Li D, LaiH, Qu J, Loh H H, Fang F*, Yang X*. Automatic detection ofinterictal ripples on scalp EEG to evaluate the effect and prognosis of ACTHtherapy in patients with infantile spasms. Epilepsia, 2021, 62(9): 2240-2251.

[13] BanR, Liu Z, Shimura M, Tong X, Wang J, Yang L, Xu M, Xiao J, Murayama K, ElstnerM, Prokisch H*, Fang F*. Biallelic COA7-Variants Leading to Developmental Regression With ProgressiveSpasticity and Brain Atrophy in a Chinese Patient. Front Genet, 2021, 12:685035.

[14]Wang J, Wang J, Han X, Liu Z, Ma Y, Chen G, Zhang H, Sun D, Xu R, Liu Y, ZhangY, Wen Y, Bao X, Chen Q*, Fang F*. Report of the Largest ChineseCohort With SLC19A3 Gene Defect andLiterature Review. Front Genet, 2021, 12: 683255.

[15] YanH, Liu Z, Cao B, Zhang V W, He Y, Jia Z, Xi H, Liu J, Fang F*, Wang H*.Novel Mutations in the GTPBP3 Genefor Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum:The First Three Cases from China. Front Genet, 2021, 12: 611226.

[16] Ren C, Zhang W, Ren X, Li J, Ding C, Wang X, Ren H, FangF*. ClinicalFeatures and Outcomes of Anti-N-Methyl-d-Aspartate Receptor Encephalitis inInfants and Toddlers. Pediatric Neurology, 2021, 119: 27-33.

[17] LiuZ, Zhang L, Ren C, Xu M, Li S, Ban R, Wu Y, Chen L, Sun S, Elstner M, ShimuraM, Ogawa-Tominaga M, Murayama K, Shi T*, Prokisch H*, Fang F*.Whole genome and exome sequencing identify NDUFV2mutations as a new cause of progressive cavitating leukoencephalopathy. Journalof Medical Genetics, 2021: 2020-107383.

[18] LiuZ, Shimura M, Zhang L, Zhang W, Wang J, Ogawa-Tominaga M, Wang J, Wang X, Lv J,Shi W, Zhang V W, Murayama K*, Fang F*. Whole exome sequencingidentifies a novel homozygous MECRmutation in a Chinese patient with childhood-onset dystonia and basal gangliaabnormalities, without optic atrophy. Mitochondrion, 2021, 57: 222-229.

[19] Stenton SL, Zou Y, Cheng H, Prokisch H*, FangF*. PediatricLeigh Syndrome: Neuroimaging Features and Genetic Correlations. Ann Neurol.2021, 89(3):629-631.

[20] 田小娟, 方方*, 丁昌红, 任晓暾, 王旭, 王晓飞, 吕俊兰, 金洪, 韩彤立, 邓劼. SYNGAP1基因相关儿童癫痫临床特点和基因分析. 中华儿科杂志, 2021,59(12): 1059-1064.

[21] 王俊玲, 方方*, 刘志梅, 徐曼婷, 代丽芳. ARID1B基因突变致Coffin-Siris综合征2例分析. 中国实用儿科杂志, 2021,36(04): 299-302.

[22]Zhou L, Deng J, Stenton S L, Zhou J, Li H, Chen C, Prokisch H*, FangF*. Case Report: Rapid Treatment of Uridine-Responsive EpilepticEncephalopathy Caused by CAD Deficiency. Front Pharmacol, 2020, 11: 608737.

[23] SunD, Liu Z, Liu Y, Wu M, Fang F*, Deng X*, Liu Z, Song L, MurayamaK, Zhang C, Zhu Y. Novel ECHS1mutations in Leigh syndrome identified by whole-exome sequencing in fiveChinese families: case report. BMC Medical Genetics, 2020, 21(1):149.

[24]Zhou J, Li J, Stenton S L, Ren X, Gong S, Fang F*, Prokisch H*.NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorderexacerbated by febrile illnesses. Brain, 2020, 143(2): e8.

[25]Stendel C#, Neuhofer C#, Floride E#, Yuqing S#, Ganetzky R D, Park J, FreisingerP, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner G M, Büchner B,Falk M J, Mayr J A, Synofzik M, Abicht A, Haack T B, Prokisch H, Wortmann S B,Murayama K, Fang F#, Klopstock T#*. Delineating MT-ATP6-associateddisease. Neurology Genetics, 2020, 6(1): e393.

[26] SunY#, Wei X#, Fang F#, Shen Y#,Wei H#, Li J, Ye X, Zhan Y, Ye X, Liu X, Yang W, Li Y, Geng X, HuangX, Ruan Y, Qin Z, Yi S, Lyu J*, Fang H*, Yu Y*.HPDL deficiency causes aneuromuscular disease by impairing the mitochondrial respiration. J GenetGenomics. 2021, 20;48(8):727-736.