Publications

Z. Su*, M. Fang*, A. Smolnikov, F. Vafaee#, ME. Dinger#, EC. Oates#. Deep Learning of 777K Bulk Transcriptomes Reveals Human–Mouse Gene Conservation Beyond DNA Sequence Similarity. Communications Biology, doi: 10.1038/s42003-026-10189-w (2026).

X. Qian*, B. Li*, J. Liu*, Y. Huang, W. Gu, Y. Zhou, Q. Nan, C Wang, L Cheng, J Niu, F Zhang, Q Li, X Zhang, J. Yang#, Y. Miao#, M. Fang#, X. Jin#, Y. Sun#. Whole-genome sequencing reveals Yunnan is the crossroads of East and Southeast Asia for human gene flow. Journal of Genetics and Genomics, S1673-8527(26)00009-3 (2026).

Y. Huang, Y. Gao, Z. Duan, X. Jia, Y. Sun, C. Liu, H. Huang, J. Liu, S. Pan, X. Jin, M. Fang#. Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns. npj Genomic Medicine 11(1):29 (2026).

I. Pakpahan*, M. Sihombing*, H. Liu, M. Wang, Z. Su#, M. Fang#. Harnessing Artificial Intelligence for Genomic Variant Prediction: Advances, Challenges, and Future Directions. GigaScience, giag004 (2026).

Fang M#*, Miao Y#, Zhu L, Mei Y, Zeng H, Luo L, Ding Y, Zhou L, Quan X, Zhao Q, Zhao X, An Y#. Age-Related Dynamics and Spectral Characteristics of the TCRβ Repertoire in Healthy Children: Implications for Immune Aging. Aging Cell, 2025.

Su Z*, Fang M*, Smolnikov A, Dinger ME, Oates EC, Vafaee F. GeneRAIN: multifaceted representation of genes via deep learning of gene expression networks. Genome Biology 26, 288 (2025).

Z. Su, M. Fang, A. Smolnikov, F. Vafaee, ME. Dinger, EC. Oates. Post-transcriptional regulation supports the homeostatic expression of mature RNA. Briefings in Bioinformatics 26 (1), bbaf027 (2025).

Y. Long, Q. Zhang, L. Ling, Y. Zhuang, X. Wei, H. Huang, Z. Lu, Y. Huang, X. Chen, Y. Ye, X. Feng, H. Zhang, B. Huang, Y. Huang, Y. Liang, M. Fang, Y. Nakamura, B. Lin, X. Zhang, D. Lu, X. Jin, X. Xu. Mutations in AMBRA1 aggravate β-thalassemia by impairing autophagy-mediated clearance of free α-globin. Blood. Dec 18: blood.2023022688 (2024).

X. Wang, Q. Zhang, X. Chen, Y. Huang, W. Zhang, L. Liao, X. Zhang, B. Huang, Y. Huang, Y. Ye, M. Song, J. Lao, J. Chen, X. Feng, X. Long, Z. Liu, W. Zhu, L. Yu, C. Fan, D. Tang, T. Zhong, M. Fang, C. Li, C. Niu, L. Huang, B. Lin, X. Hua, X. Jin, Z. Li, X. Xu. Whole-genome Sequencing Association Analysis of Quantitative Platelet Traits in A Large Cohort of β-thalassemia. Genomics, Proteomics & Bioinformatics, qzae065 (2024).

Y. Wei, T. Zhang, B. Wang, X. Jiang, F. Ling, M. Fang, X. Jin, Y. Bai. INDELpred: Improving the prediction and interpretation of indel pathogenicity within the clinical genome. Human Genetics and Genomics Advances 5 (4) (2024).

F. Fellmann, C. Saunders, M. O'Donohue, D. Reid, K. McFadden, N. Montel-Lehry, C. Yu, M. Fang, J. Zhang, B. Royer-Bertrand, P. Farinelli, N. Karboul, J. Willer, L. Fievet, Z. Bhuiyan, A. Kleinhenz, J. Jadeau, J. Fulbright, C. Rivolta, R. Renella, N. Katsanis, J. Beckmann, C. Nicchitta, L. Costa, E. Davis, P. Gleizes. An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants. JCI insight 9 (17), e172475 (2024).

L. Sun, Z. Li, C. Hu, J. Ding, Q. Zhou, G. Pang, Z. Wu, R. Yang, S. Li, J. Li, J. Cai, Y. Sun, R. Li, H. Zhen, S. Sun, J. Zhang, M. Fang, Z. Chen, Y. Lv, Q. Cao, Y. Sun, R. Gong, Z. Huang, Y. Duan, H. Liu, J. Dong, J. Li, J. Ruan, H. Lu, B. He, N. Li, T. Li, W. Xue, Y. Li, J. Shen, F. Yang, C. Zhao, Q. Liang, M. Zhang, C. Chen, H. Gong, Y. Hou, J. Wang, Y. Zhang, H. Yang, S. Zhu, L. Xiao, Z. Jin, H. Guo, P. Zhao, S. Brix, X. Xu, H. Jia, K. Kristiansen, Z. Yang, C. Nie. Age-dependent changes in the gut microbiota and serum metabolome correlate with renal function and human aging. Aging Cell 22 (12), e14028 (2024).

Miao Y*, Konno Y*, Wang B*, Zhu L, Zhai T, Ihira K, Kobayashi N, Watari H, Jin X, Yue J#, Dong P#, Fang M#. Integrated multi-omics analyses and functional validation reveal TTK as a novel EMT activator for endometrial cancer. J Transl Med 21(1):151 (2023).

Miao Y*, Shi Z*, Zhang W*, Zhu L, Tang S, Chen H, Wang X, Du Q, Li S, Zhang Y, Luo W, Jin X#, Fang M#, Zhou H#. Immune Repertoire Profiling Reveals Its Clinical Application Potential and Triggers for Neuromyelitis Optica Spectrum Disorders. Neurol Neuroimmunol Neuroinflamm 10(5):e200134 (2023).

Li Z*, Xie Y*, Zeng W*, Huang Y, Gu S, Gao Y, Huang W, Lu L, Wang X, Wu J, Yin X, Zhu R, Huang G, Lu L, Tang J, Zheng Y, Liu Q, Zhou X, Shan R#, Wang B#, Fang M#, Jin X#. An efficient large‐scale whole‐genome sequencing analyses practice with an average daily analysis of 100Tbp: ZBOLT. Clinical and Translational Discovery, 2023.

S. Cheng, Z. Xu, S. Bian, X. Chen, Y. Shi, Y. Li, Y. Duan, Y. Liu, J. Lin, Y. Jiang, J. Jing, Z. Li, Y. Wang, X. Meng, Y. Liu, M. Fang, X. Jin, X. Xu, J. Wang, C. Wang, H. Li, S. Liu, Y. Wang. The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay. Cell Discovery 9 (1), 75 (2023).

Z. Li, X. Jiang, M. Fang, Y. Bai, S. Liu, S. Huang, X. Jin. CMDB: the comprehensive population genome variation database of China. Nucleic Acids Res, gkac638 (2023).

W. Zhang, Z. Wan, X. Li, R. Li, L. Luo, Z. Song, Y. Miao, Z. Li, S. Wang, Y. Shan, Y. Li, B. Chen, H. Zhen, Y. Sun, M. Fang, J. Ding, Y. Yan, Y. Zong, Z. Wang, W. Zhang, H. Yang, S. Yang, J. Wang, X. Jin, R. Wang, P. Chen, J. Min, Y. Zeng, T. Li, X. Xu, C. Nie. A population-based study of precision health assessments using multi-omics network-derived biological functional modules. Cell Rep Med. Dec 20;3(12):100847 (2022).

P. Liu, M. Fang, Y. Luo, F. Zheng, Y. Jin, F. Cheng, H. Zhu, X. Jin. Rare Variants in Inborn Errors of Immunity Genes Associated with Covid-19 Severity. Front Cell Infect Microbiol, 12:888582 (2022).

M. Fang*, Z. Su*, H. Abolhassani, Y. Itan, X. Jin, L. Hammarström. VIPPID: a gene specific single nucleotide variant pathogenicity prediction tool for Primary Immunodeficiency Diseases. Briefings in Bioinformatics, bbac176 (2022).

L. Zhu, Y. Miao, F. Xi, P. Jiang, L. Xiao, X. Jin, M. Fang#. Identification of potential biomarkers for Pan-cancer diagnosis and prognosis through the integration of large-scale transcriptomic data. Frontiers in Pharmacology 13:870660 (2022).

M. Jian*, X. Wang*, Y. Sui*, M. Fang*, C. Feng, Y. Huang, C. Liu, R. Guo, Y. Guan, Y. Gao, Z. Wang, S. Li, B. Cheng, L. Sun, F. Cui, J. Guo, Y. Zhan, G. Zhang, L. Zheng, F. Su, W. Xue, P. Qian, S. Gao, J. Chen, Q. Zhao, L. Guan, H. Lu, K. Kristiansen, X. Jin, F. Chen, Y. Zhao, L. Hammarström, X. Jiang, J. Liu, Y. Gao. A Pilot Study of Assessing Whole Genome Sequencing in Newborn Screening in Unselected Children in China. Clinical and Translational Medicine 12(6):e843 (2022).

M. Fang*, Z. Su*, H. Abolhassani*, W. Zhang, C. Jiang, B. Cheng, L. Luo, J. Wu, S. Wang, L. Lin, X. Wang, L. Wang, A. Aghamohammadi, T. Li, X. Zhang, L. Hammarström, X. Liu. T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects. Journal of Clinical Immunology 42, 375-393 (2022).

R. Rossi*, M. Fang*, L. Zhu, C. Jiang, C. Yu, C. Flesia, C. Nie, W. Li, A. Ferlini. Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue-specific hierarchy. PLoS One 17(3) (2022).

R. Selvatici, R. Rossi, F. Fortunato, C. Trabanelli, Y. Sifi, A. Margutti, M. Neri, F. Gualandi, L. Szabo, B. Fekete, L. Angelova, I. Litvinenko, I. Ivanov, Y. Vildan, O. A. Iuhas, M. Vintan, C. Burloiu, B. Lacramioara, G. Visa, D. Epure, C. Rusu, D. Vasile, M. Sandu, D. Vlodavets, M. Mager, T. Kyriakides, S. Delin, I. Lehman, J. S. Fures, V. Bojinova, M. Militaru, V. Guergueltcheva, B. Burnyte, M. J. Molnar, N. Butoianu, S. D. Bensemmane, S. Makri-Mokrane, A. Herczegfalvi, M. Panzaru, A. C. Emandi, A. Lusakowska, A. Potulska-Chromik, A. Kostera-Pruszczyk, A. Shatillo, D. B. Khelladi, O. Dendane, M. Fang, Z. Lu, A. Ferlini. Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries. Neurol Genet, 7 (2021).

C. Liu, Z. Li, J. Ding, H. Zhen, M. Fang#, C. Nie#. Species-Level Analysis of the Human Gut Microbiome Shows Antibiotic Resistance Genes Associated with Colorectal Cancer. Frontiers in Microbiology 12, 765291 (2021).

G. Rothschild, W. Zhang, J. Lim, P. K. Giri, B. Laffleur, Y. Chen, M. Fang, Y. Chen, L. Nair, Z. P. Liu, H. Deng, L. Hammarstrom, J. Wang, U. Basu. Noncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombination. Science immunology 5 (2020).

Bienias, M., A. Gabrielyan, L. Geberzahn, A. Rosen-Wolff, A. Huebner, E. M. Jacobsen, N. Toepfner, M. Fang, M. A. Lee-Kirsch, J. Roesler, C. Schuetz. More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation. Pediatr Allergy Immunol (2020).

Jespersgaard, C., M. Bertelsen, F. Arif, H. G. Gellert-Kristensen, M. Fang, H. Jensen, T. Rosenberg, Z. Tumer, L. B. Moller, K. Brondum-Nielsen, K. Gronskov. Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa. Genes (Basel), 11 (2020).

Abolhassani, H., H. Marcotte, M. Fang, L. Hammarstrom. Clinical Implications of Experimental Analyses of AID Function on Predictive Computational Tools: Challenge of Missense Variants. Clin Genet (2020).

Wolf, C., N. Bruck, S. Koss, C. Griep, M. Kirschfink, K. Palm-Beden, M. Fang, N. Rober, S. Winkler, R. Berner, E. Latz, C. Gunther, M. A. Lee-Kirsch. Janus kinase inhibition in complement component 1 deficiency. J Allergy Clin Immunol (2020).

Caporali, L., S. Magri, A. Legati, V. Del Dotto, F. Tagliavini, F. Balistreri, A. Nasca, C. La Morgia, M. Carbonelli, M. L. Valentino, E. Lamantea, S. Baratta, L. Schols, R. Schule, P. Barboni, M. L. Cascavilla, A. Maresca, M. Capristo, A. Ardissone, D. Pareyson, G. Cammarata, L. Melzi, M. Zeviani, L. Peverelli, C. Lamperti, S. Bianchi Marzoli, M. Fang, M. Synofzik, D. Ghezzi, V. Carelli, F. Taroni. ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy. Ann Neurol (2020).

C. Jespersgaard, A. B. Hey, T. Ilginis, T. D. Hjortshoj, M. Fang, M. Bertelsen, N. Bech, H. Jensen, L. J. Larsen, Z. Tumer, T. Rosenberg, K. Brondum-Nielsen, K. Gronskov. A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. Invest Ophthalmol Vis Sci 61, 29 (2020).

K. Cao, J. Wu, X. Li, H. Xie, C. Tang, X. Zhao, S. Wang, L. Chen, W. Zhang, Y. An, X. Li, L. Lin, R. Chai, M. Fang, Y. Yue, X. Wang, Y. Ding, L. Zhou, Q. Zhao, H. Yang, J. Wang, S. He, X. Liu. T cell receptor repertoire data provides new evidence for hygiene hypothesis of allergic diseases. Allergy (2019).

X. Liu, W. Zhang, M. Zhao, L. Liu, L. Liu, J. Wu, S. Luo, L. Wang, Z. Wang, L. Lin, Y. Liu, S. Wang, Y. Yang, L. Luo, J. Jiang, X. Wang, Y. Tan, T. Li, B. Zhu, Y. Zhao, X. Gao, Z. Wan, C. Huang, M. Fang, Q. Li, H. Peng, X. Liao, J. Chen, F. Li, G. Ling, H. Zhao, H. Luo, Z. Xiang, J. Liao, Y. Liu, H. Yin, H. Long, H. Wu, H. Yang, J. Wang, Q. Lu. T cell receptor beta repertoires as novel diagnostic markers for systemic lupus erythematosus and rheumatoid arthritis. Ann Rheum Dis (2019).

K. I. Szczerkowska, S. Petrezselyova, J. Lindovsky, M. Palkova, J. Dvorak, P. Makovicky, M. Fang, C. Jiang, L. Chen, M. Shi, X. Liu, J. Zhang, A. Kubik-Zahorodna, B. Schuster, I. M. Beck, V. Novosadova, J. Prochazka, R. Sedlacek. Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype. Cell Biosci 9, 21 (2019).

H. Abolhassani, A. Aghamohammadi, M. Fang, N. Rezaei, C. Jiang, X. Liu, Q. Pan-Hammarstrom, L. Hammarstrom. Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. Genetics in medicine 21, 243-251 (2019).

M. Fang, H. Abolhassani, Q. Pan-Hammarstrom, E. Sandholm, X. Liu, L. Hammarstrom. Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis. Journal of Clinical Immunology 39, 131-134 (2019).

C. Jespersgaard*, M. Fang*, M. Bertelsen, X. Dang, H. Jensen, Y. Chen, N. Bech, L. Dai, T. Rosenberg, J. Zhang, L. B. Moller, Z. Tumer, K. Brondum-Nielsen, K. Gronskov. Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. Scientific Reports 9, 1219 (2019).

B. Cheng, X. Mo, Q. Feng, M. Fang#. The novel HLA-C*08:80 allele identified by full-length sequencing of the HLA region. HLA (2019).

V. Yahalom, N. Pillar, Y. Zhao, S. Modan, M. Fang, L. Yosephi, O. Asher, E. Shinar, G. Celniker, H. Resnik-Wolf, Y. Brantz, H. Hauschner, N. Rosenberg, L. Cheng, N. Shomron, E. Pras. SMYD1 is the underlying gene for the AnWj-negative blood group phenotype. Eur J Haematol 101, 496-501 (2018).

S. Bigoni, M. Neri, C. Scotton, R. Farina, P. Sabatelli, C. Jiang, J. Zhang, M. S. Falzarano, R. Rossi, D. Ognibene, R. Selvatici, F. Gualandi, D. Bosshardt, P. Perri, C. Campa, F. Brancati, M. Salvatore, M. C. De Stefano, D. Taruscio, L. Trombelli, M. Fang, A. Ferlini. Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family. Frontiers in genetics 9, 723 (2018).

F. Gualandi, F. Zaraket, M. Malagu, G. Parmeggiani, C. Trabanelli, S. Fini, X. Dang, X. Wei, M. Fang, M. Bertini, R. Ferrari, A. Ferlini. Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome. Cardiology 137, 256-260 (2017).

H. Abolhassani, E. S. Edwards, A. Ikinciogullari, H. Jing, S. Borte, M. Buggert, L. Du, M. Matsuda-Lennikov, R. Romano, R. Caridha, S. Bade, Y. Zhang, J. Frederiksen, M. Fang, S. K. Bal, S. Haskologlu, F. Dogu, N. Tacyildiz, H. F. Matthews, J. J. McElwee, E. Gostick, D. A. Price, U. Palendira, A. Aghamohammadi, B. Boisson, N. Rezaei, A. C. Karlsson, M. J. Lenardo, J. L. Casanova, L. Hammarstrom, S. G. Tangye, H. C. Su, Q. Pan-Hammarstrom. Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. The Journal of experimental medicine 214, 91-106 (2017).

N. Pillar*, O. Pleniceanu*, M. Fang*, L. Ziv, E. Lahav, S. Botchan, L. Cheng, B. Dekel, N. Shomron. A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism. Human Genetics 136, 835-845 (2017).

R. F. Schindler, C. Scotton, J. Zhang, C. Passarelli, B. Ortiz-Bonnin, S. Simrick, T. Schwerte, K. L. Poon, M. Fang, S. Rinne, A. Froese, V. O. Nikolaev, C. Grunert, T. Muller, G. Tasca, P. Sarathchandra, F. Drago, B. Dallapiccola, C. Rapezzi, E. Arbustini, F. R. Di Raimo, M. Neri, R. Selvatici, F. Gualandi, F. Fattori, A. Pietrangelo, W. Li, H. Jiang, X. Xu, E. Bertini, N. Decher, J. Wang, T. Brand, A. Ferlini. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. The Journal of clinical investigation 126, 239-253 (2016).

E. Gregianin, G. Pallafacchina, S. Zanin, V. Crippa, P. Rusmini, A. Poletti, M. Fang, Z. Li, L. Diano, A. Petrucci, L. Lispi, T. Cavallaro, G. M. Fabrizi, M. Muglia, F. Boaretto, A. Vettori, R. Rizzuto, M. L. Mostacciuolo, G. Vazza. Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling. Human molecular genetics 25, 3741-3753 (2016).

L. Gao, X. Dang, L. Huang, L. Zhu, M. Fang, J. Zhang, X. Xu, L. Zhu, T. Li, L. Zhao, J. Wei, J. Zhou. Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis. Translational research 170, 26-39 (2016).

C. Dallabona, T. E. Abbink, R. Carrozzo, A. Torraco, A. Legati, C. G. van Berkel, M. Niceta, T. Langella, D. Verrigni, T. Rizza, D. Diodato, F. Piemonte, E. Lamantea, M. Fang, J. Zhang, D. Martinelli, E. Bevivino, C. Dionisi-Vici, A. Vanderver, S. G. Philip, M. A. Kurian, I. C. Verma, S. Bijarnia-Mahay, S. Jacinto, F. Furtado, P. Accorsi, A. Ardissone, I. Moroni, I. Ferrero, M. Tartaglia, P. Goffrini, D. Ghezzi, M. S. van der Knaap, E. Bertini. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Brain 139, 782-794 (2016).

O. K. Alkhairy, H. Abolhassani, N. Rezaei, M. Fang, K. K. Andersen, Z. Chavoshzadeh, I. Mohammadzadeh, M. A. El-Rajab, M. Massaad, J. Chou, A. Aghamohammadi, R. S. Geha, L. Hammarstrom. Spectrum of Phenotypes Associated with Mutations in LRBA. Journal of clinical immunology 36, 33-45 (2016).

S. Olgiati*, M. Quadri*, M. Fang*, J. P. Rood, J. A. Saute, H. F. Chien, C. G. Bouwkamp, J. Graafland, M. Minneboo, G. J. Breedveld, J. Zhang, F. W. Verheijen, A. J. Boon, A. J. Kievit, L. B. Jardim, W. Mandemakers, E. R. Barbosa, C. R. Rieder, K. L. Leenders, J. Wang, V. Bonifati. DNAJC6 Mutations Associated with Early-Onset Parkinson's Disease. Annals of Neurology 79, 244-256 (2016).

A. Masuho*, M. Fang*, C. Geng, J. Zhang, H. Jiang, R. K. Ozgul, D. Y. Yilmaz, D. Yalnizoglu, D. Yuksel, A. Yarrow, A. Myers, S. C. Burn, P. L. Crotwell, S. Padilla-Lopez, A. Dursun, K. A. Martemyanov, M. C. Kruer. Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia. Neurology Genetics 2, e78 (2016).

M. Fang, H. Abolhassani, C. K. Lim, J. Zhang, L. Hammarstrom. Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions. Journal of Clinical Immunology 36 Suppl 1, 68-75 (2016).

A. Reyes, L. Melchionda, A. Nasca, F. Carrara, E. Lamantea, A. Zanolini, C. Lamperti, M. Fang, J. Zhang, D. Ronchi, S. Bonato, G. Fagiolari, M. Moggio, D. Ghezzi, M. Zeviani. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. American journal of human genetics 97, 186-193 (2015).

A. E. Pen, M. Nyegaard, M. Fang, H. Jiang, R. Christensen, H. Molgaard, H. Andersen, B. P. Ulhoi, J. R. Ostergaard, S. Vaeth, M. Sommerlund, A. P. de Brouwer, X. Zhang, U. B. Jensen. A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. European journal of medical genetics 58, 222-229 (2015).

A. Masotti, P. Uva, L. Davis-Keppen, L. Basel-Vanagaite, L. Cohen, E. Pisaneschi, A. Celluzzi, P. Bencivenga, M. Fang, M. Tian, X. Xu, M. Cappa, B. Dallapiccola. Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. American journal of human genetics 96, 295-300 (2015).

Q. Lu, N. Zhao, Y. Lv, W. Gong, H. Wang, Q. Tong, X. Lai, R. Liu, M. Fang, J. Zhang, Z. Du, X. Zhang. A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. International journal of ophthalmology 8, 1112-1117 (2015).

O. K. Alkhairy, R. Perez-Becker, G. J. Driessen, H. Abolhassani, J. van Montfrans, S. Borte, S. Choo, N. Wang, K. Tesselaar, M. Fang, K. Bienemann, K. Boztug, A. Daneva, F. Mechinaud, T. Wiesel, C. Becker, G. Duckers, K. Siepermann, M. C. van Zelm, N. Rezaei, M. van der Burg, A. Aghamohammadi, M. G. Seidel, T. Niehues, L. Hammarstrom. Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. The Journal of allergy and clinical immunology 136, 703-712.e710 (2015).

M. Robusto*, M. Fang*, R. Asselta, P. Castorina, S. C. Previtali, S. Caccia, E. Benzoni, R. De Cristofaro, C. Yu, A. Cesarani, X. Liu, W. Li, P. Primignani, U. Ambrosetti, X. Xu, S. Duga, G. Solda. The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. European Journal of Human Genetics 23, 766-773 (2015).

L. Roos, M. Fang, C. Dali, H. Jensen, N. Christoffersen, B. Wu, J. Zhang, R. Xu, P. Harris, X. Xu, K. Gronskov, Z. Tumer. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia. Clinical genetics 86, 276-281 (2014).

P. Dusatkova, M. Fang, S. Pruhova, A. P. Gjesing, O. Cinek, T. Hansen, O. B. Pedersen, X. Xu, J. Lebl. Lessons from whole-exome sequencing in MODYX families. Diabetes research and clinical practice 104, e72-74 (2014).

C. Zhang, D. Li, J. Zhang, X. Chen, M. Huang, S. Archacki, Y. Tian, W. Ren, A. Mei, Q. Zhang, M. Fang, Z. Su, Y. Yin, D. Liu, Y. Chen, X. Cui, C. Li, H. Yang, Q. Wang, J. Wang, M. Liu, Y. Deng. Mutations in ABCB6 cause dyschromatosis universalis hereditaria. The Journal of investigative dermatology 133, 2221-2228 (2013).

G. Zanni, C. Scotton, C. Passarelli, M. Fang, S. Barresi, B. Dallapiccola, B. Wu, F. Gualandi, A. Ferlini, E. Bertini, W. Wei. Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. Neurogenetics 14, 247-250 (2013).

X. Qi, Z. Du, J. Ma, X. Chen, Q. Zhang, J. Fei, X. Wei, D. Chen, H. Ke, X. Liu, F. Li, Z. Chen, Z. Su, H. Jin, W. Liu, Y. Zhao, H. Jiang, Z. Lan, P. Li, M. Fang, W. Dong, X. Zhang. Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations. Gene 516, 93-100 (2013).

M. Quadri*, M. Fang*, M. Picillo, S. Olgiati, G. J. Breedveld, J. Graafland, B. Wu, F. Xu, R. Erro, M. Amboni, S. Pappata, M. Quarantelli, G. Annesi, A. Quattrone, H. F. Chien, E. R. Barbosa, B. A. Oostra, P. Barone, J. Wang, V. Bonifati. Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. Human Mutation 34, 1208-1215 (2013).

L. Melchionda*, M. Fang*, H. Wang, V. Fugnanesi, M. Morbin, X. Liu, W. Li, I. Ceccherini, L. Farina, M. Savoiardo, P. D'Adamo, J. Zhang, A. Costa, S. Ravaglia, D. Ghezzi, M. Zeviani. Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant. Orphanet Journal of Rare Diseases 8, 66 (2013).

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