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Curt Scharfe

MD, PhD, FACMG

Associate Professor of Genetics

Research & Publications
Biography
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Research Summary

Our laboratory develops new tools and genomic approaches for molecular screening and diagnostics and the study of disease pathogenesis. We couple experimental and computational techniques to fully integrate all steps of highly multiplexed molecular assays, which include nucleic acid extraction from small and challenging clinical samples (e.g., dried blood spots, plasma), targeted (multi-gene panels, exome, microarrays) and genome sequencing, detection of rare single nucleotide and copy number variants, and data interpretation in the context of clinical findings. We use laboratory automation to increase assay precision and speed, and work on implementing these techniques into rapid disease screening and diagnostics. Our lab is located in a highly translational setting next to the Yale DNA Diagnostic Laboratory. We work closely with the Yale Center for Genome Analysis (YCGA) and collaborate with clinical colleagues and researcher at Yale and other institutions. Please read here about our most recent projects.

We are interested in collaborations of all sorts including clinical medicine, genetics and genomics, biochemistry, technology development, chemical and electrical engineering, statistics and computational sciences. We seek highly motivated students and postdoctoral candidates to join a multi-disciplinary team of experimental and computational scientists in a highly translational setting at the Yale Genetics Department. Please feel free to contact curt.scharfe@yale.edu for open positions.

Extensive Research Description

https://www.ncbi.nlm.nih.gov/myncbi/1Xqit86YulrAw/bibliography/public/

Coauthors

Research Interests

Biotechnology; Cystic Fibrosis; DNA; DNA Virus Infections; Genetics, Population; Heart Defects, Congenital; Infant, Newborn, Diseases; Metabolism, Inborn Errors; Prenatal Diagnosis; Neonatal Screening; Genomics; Molecular Diagnostic Techniques; Mitochondrial Diseases; Proteomics; Microarray Analysis; High-Throughput Nucleotide Sequencing

Research Image

Snapshots of blood metabolic changes shortly after birth.

Metabolite levels were analyzed in babies at different age at blood collection (AaBC) timepoints ranging from 12-72 hours after birth. Metabolites were found to group into two clusters of either decreasing (on top, blue) or increasing (at bottom, red) levels after birth. Timing of blood collection could affect the performance of newborn screening for metabolic disorders (Peng G et al. Front Pediatr. 2021).

Selected Publications

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Peña L, Burrage L, Enns G, Esplin E, Harding C, Mendell J, Niu Z, Scharfe C, Yu T, Koeberl D, Committee A. Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2023, 25: 100831. PMID: 37031408, DOI: 10.1016/j.gim.2023.100831.
Nucleic Acid Quantification by Multi-Frequency Impedance Cytometry and Machine LearningKokabi M, Sui J, Gandotra N, Pournadali Khamseh A, Scharfe C, Javanmard M. Nucleic Acid Quantification by Multi-Frequency Impedance Cytometry and Machine Learning. Biosensors 2023, 13: 316. PMCID: PMC10046493, DOI: 10.3390/bios13030316.
Nucleic Acid Quantification by Multi-Frequency Impedance Cytometry and Machine LearningKokabi M, Sui J, Gandotra N, Khamseh A, Scharfe C, Javanmard M. Nucleic Acid Quantification by Multi-Frequency Impedance Cytometry and Machine Learning. Biosensors 2023, 13: 316. PMID: 36979528, PMCID: PMC10046493, DOI: 10.3390/bios13030316.
A systems biology approach identifies the role of dysregulated PRDM6 in the development of hypertensionGunawardhana K, Hong L, Rugira T, Uebbing S, Kucharczak J, Mehta S, Karunamuni D, Cabera-Mendoza B, Gandotra N, Scharfe C, Polimanti R, Noonan J, Mani A. A systems biology approach identifies the role of dysregulated PRDM6 in the development of hypertension. Journal Of Clinical Investigation 2023, 133: e160036. PMID: 36602864, PMCID: PMC9927944, DOI: 10.1172/jci160036.
Validation of a targeted metabolomics panel for improved second‐tier newborn screeningMak J, Peng G, Le A, Gandotra N, Enns G, Scharfe C, Cowan T. Validation of a targeted metabolomics panel for improved second‐tier newborn screening. Journal Of Inherited Metabolic Disease 2023, 46: 194-205. PMID: 36680545, PMCID: PMC10023470, DOI: 10.1002/jimd.12591.
P552: Improving DNA sequencing from dried blood spots for multi-tiered newborn screeningGandotra N, Peng G, Tikhonova I, Storer C, Mak J, Wang G, Cowan T, Scharfe C. P552: Improving DNA sequencing from dried blood spots for multi-tiered newborn screening. Genetics In Medicine Open 2023, 1: 100599. DOI: 10.1016/j.gimo.2023.100599.
A multipurpose panel of microhaplotypes for caseworkKidd K, Pakstis A, Gandotra N, Scharfe C, Podini D. A multipurpose panel of microhaplotypes for casework. Forensic Science International Genetics Supplement Series 2022, 8: 202-204. DOI: 10.1016/j.fsigss.2022.10.035.
Empirical haplotype calling and probabilistic interpretation of microhaplotype profilesStandage D, Just R, Scharfe C, Gandotra N. Empirical haplotype calling and probabilistic interpretation of microhaplotype profiles. Forensic Science International Genetics Supplement Series 2022, 8: 265-267. DOI: 10.1016/j.fsigss.2022.10.057.
Metabolic diversity in human populations and correlation with genetic and ancestral geographic distancesPeng G, Pakstis AJ, Gandotra N, Cowan TM, Zhao H, Kidd KK, Scharfe C. Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances. Molecular Genetics And Metabolism 2022, 137: 292-300. PMID: 36252453, PMCID: PMC10131177, DOI: 10.1016/j.ymgme.2022.10.002.
dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease ScreeningPeng G, Zhang Y, Zhao H, Scharfe C. dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening. International Journal Of Neonatal Screening 2022, 8: 48. PMID: 36135348, PMCID: PMC9504335, DOI: 10.3390/ijns8030048.
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M. Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Frontiers In Genetics 2022, 13: 867337. PMID: 35938011, PMCID: PMC9354846, DOI: 10.3389/fgene.2022.867337.
A multipurpose panel of microhaplotypes for use with STR markers in caseworkKidd KK, Pakstis AJ, Gandotra N, Scharfe C, Podini D. A multipurpose panel of microhaplotypes for use with STR markers in casework. Forensic Science International Genetics 2022, 60: 102729. PMID: 35696960, DOI: 10.1016/j.fsigen.2022.102729.
The population genetics characteristics of a 90 locus panel of microhaplotypesPakstis AJ, Gandotra N, Speed WC, Murtha M, Scharfe C, Kidd KK. The population genetics characteristics of a 90 locus panel of microhaplotypes. Human Genetics 2021, 140: 1753-1773. PMID: 34643790, PMCID: PMC8553733, DOI: 10.1007/s00439-021-02382-0.
eP037 Timing of newborn blood collection alters screening performance for metabolic disordersPeng G, Tang Y, Gandotra N, Cowan T, Zhao H, Scharfe C. eP037 Timing of newborn blood collection alters screening performance for metabolic disorders. Molecular Genetics And Metabolism 2021, 132: s26. DOI: 10.1016/s1096-7192(21)00124-4.
Multi-frequency impedance sensing for detection and sizing of DNA fragmentsSui J, Gandotra N, Xie P, Lin Z, Scharfe C, Javanmard M. Multi-frequency impedance sensing for detection and sizing of DNA fragments. Scientific Reports 2021, 11: 6490. PMID: 33753781, PMCID: PMC7985362, DOI: 10.1038/s41598-021-85755-9.
Timing of Newborn Blood Collection Alters Metabolic Disease Screening PerformancePeng G, Tang Y, Cowan TM, Zhao H, Scharfe C. Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance. Frontiers In Pediatrics 2021, 8: 623184. PMID: 33553077, PMCID: PMC7854909, DOI: 10.3389/fped.2020.623184.
Massively parallel discovery of human-specific substitutions that alter enhancer activityUebbing S, Gockley J, Reilly SK, Kocher AA, Geller E, Gandotra N, Scharfe C, Cotney J, Noonan JP. Massively parallel discovery of human-specific substitutions that alter enhancer activity. Proceedings Of The National Academy Of Sciences Of The United States Of America 2020, 118: e2007049118. PMID: 33372131, PMCID: PMC7812811, DOI: 10.1073/pnas.2007049118.
Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomesPeng G, Tang Y, Gandotra N, Enns GM, Cowan TM, Zhao H, Scharfe C. Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes. Journal Of Inherited Metabolic Disease 2020, 43: 934-943. PMID: 32216101, PMCID: PMC7540352, DOI: 10.1002/jimd.12236.
Validation of novel forensic DNA markers using multiplex microhaplotype sequencingGandotra N, Speed WC, Qin W, Tang Y, Pakstis AJ, Kidd KK, Scharfe C. Validation of novel forensic DNA markers using multiplex microhaplotype sequencing. Forensic Science International Genetics 2020, 47: 102275. PMID: 32305739, PMCID: PMC10131188, DOI: 10.1016/j.fsigen.2020.102275.
Reducing False-Positive Results in Newborn Screening Using Machine LearningPeng G, Tang Y, Cowan TM, Enns GM, Zhao H, Scharfe C. Reducing False-Positive Results in Newborn Screening Using Machine Learning. International Journal Of Neonatal Screening 2020, 6: 16. PMID: 32190768, PMCID: PMC7080200, DOI: 10.3390/ijns6010016.
Rapid Label-free DNA Quantification by Multi-frequency Impedance Sensing on a Chip.Sui J, Gandotra N, Scharfe C, Javanmard M. Rapid Label-free DNA Quantification by Multi-frequency Impedance Sensing on a Chip. Conference Proceedings : ... Annual International Conference Of The IEEE Engineering In Medicine And Biology Society. IEEE Engineering In Medicine And Biology Society. Annual Conference 2019, 2019: 5670-5673. PMID: 31947139, DOI: 10.1109/EMBC.2019.8856390.
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newbornsPeng G, de Fontnouvelle CA, Enns GM, Cowan TM, Zhao H, Scharfe C. Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. Molecular Genetics And Metabolism 2018, 126: 39-42. PMID: 30448007, PMCID: PMC6361520, DOI: 10.1016/j.ymgme.2018.11.006.
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemiaPeng G, Shen P, Gandotra N, Le A, Fung E, Jelliffe-Pawlowski L, Davis RW, Enns GM, Zhao H, Cowan TM, Scharfe C. Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. Genetics In Medicine 2018, 21: 896-903. PMID: 30209273, PMCID: PMC6416784, DOI: 10.1038/s41436-018-0272-5.
Transplant Virus Detection Using Multiplex Targeted SequencingTan SK, Shen P, Lefterova MI, Sahoo MK, Fung E, Odegaard JI, Davis RW, Pinsky BA, Scharfe C. Transplant Virus Detection Using Multiplex Targeted Sequencing. The Journal Of Applied Laboratory Medicine 2018, 2: 757-769. PMID: 31245786, PMCID: PMC6594177, DOI: 10.1373/jalm.2017.024521.
Multiplex Detection of DNA Viruses in Transplant RecipientsTan S, Shen P, Lefterova M, Sahoo M, Odegaard J, Pinsky B, Scharfe C. Multiplex Detection of DNA Viruses in Transplant Recipients. Open Forum Infectious Diseases 2017, 4: s724-s724. DOI: 10.1093/ofid/ofx163.1953.
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born PrematureSylvester KG, Kastenberg ZJ, Moss RL, Enns GM, Cowan TM, Shaw GM, Stevenson DK, Sinclair TJ, Scharfe C, Ryckman KK, Jelliffe-Pawlowski LL. Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature. The Journal Of Pediatrics 2016, 181: 80-85.e1. PMID: 27836286, PMCID: PMC5538349, DOI: 10.1016/j.jpeds.2016.10.019.
Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic FibrosisLefterova MI, Shen P, Odegaard JI, Fung E, Chiang T, Peng G, Davis RW, Wang W, Kharrazi M, Schrijver I, Scharfe C. Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis. Journal Of Molecular Diagnostics 2016, 18: 267-282. PMID: 26847993, PMCID: PMC4816703, DOI: 10.1016/j.jmoldx.2015.11.005.
Characterizing the human mitochondrial proteome using a genome-wide functional linkage networkZarkoob H, Shen P, Enns G, Sabatti C, Scharfe C. Characterizing the human mitochondrial proteome using a genome-wide functional linkage network. Mitochondrion 2015, 24: s26. DOI: 10.1016/j.mito.2015.07.076.
A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart DiseasesWilson KD, Shen P, Fung E, Karakikes I, Zhang A, InanlooRahatloo K, Odegaard J, Sallam K, Davis RW, Lui GK, Ashley EA, Scharfe C, Wu JC. A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases. Circulation Research 2015, 117: 603-611. PMID: 26265630, PMCID: PMC4568077, DOI: 10.1161/circresaha.115.306723.
Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communitiesFalk M, Shen L, Gonzalez M, Leipzig J, Lott M, Stassen A, Diroma M, Navarro-Gomez D, Yeske P, Bai R, Boles R, Brilhante V, Ralph D, DaRe J, Shelton R, Terry S, Zhang Z, Copeland W, van Oven M, Prokisch H, Wallace D, Attimonelli M, Krotoski D, Zuchner S, Gai X, participants: M, Bale S, Bedoyan J, Behar D, Bonnen P, Brooks L, Calabrese C, Calvo S, Chinnery P, Christodoulou J, Church D, Clima R, Cohen B, Cotton R, de Coo I, Derbenevoa O, Dunnen J, Dimmock D, Enns G, Gasparre G, Goldstein A, Gonzalez I, Gwinn K, Hahn S, Haas R, Hakonarson H, Hirano M, Kerr D, Li D, Lvova M, Macrae F, Maglott D, McCormick E, Mitchell G, Mootha V, Okazaki Y, Pujol A, Parisi M, Perin J, Pierce E, Procaccio V, Rahman S, Reddi H, Rehm H, Riggs E, Rodenburg R, Rubinstein Y, Saneto R, Santorsola M, Scharfe C, Sheldon C, Shoubridge E, Simone D, Smeets B, Smeitink J, Stanley C, Suomalainen A, Tarnopolsky M, Thiffault I, Thorburn D, Van Hove J, Wolfe L, Wong L. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Molecular Genetics And Metabolism 2014, 114: 388-396. PMID: 25542617, PMCID: PMC4512182, DOI: 10.1016/j.ymgme.2014.11.016.
A functional screen for copper homeostasis genes identifies a pharmacologically tractable cellular systemSchlecht U, Suresh S, Xu W, Aparicio AM, Chu A, Proctor MJ, Davis RW, Scharfe C, St Onge RP. A functional screen for copper homeostasis genes identifies a pharmacologically tractable cellular system. BMC Genomics 2014, 15: 263. PMID: 24708151, PMCID: PMC4023593, DOI: 10.1186/1471-2164-15-263.
Multiplex target capture with double-stranded DNA probesShen P, Wang W, Chi AK, Fan Y, Davis RW, Scharfe C. Multiplex target capture with double-stranded DNA probes. Genome Medicine 2013, 5: 50. PMID: 23718862, PMCID: PMC3706973, DOI: 10.1186/gm454.
Rare variant detection using family-based sequencing analysisPeng G, Fan Y, Palculict TB, Shen P, Ruteshouser EC, Chi AK, Davis RW, Huff V, Scharfe C, Wang W. Rare variant detection using family-based sequencing analysis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 3985-3990. PMID: 23426633, PMCID: PMC3593912, DOI: 10.1073/pnas.1222158110.
Forward Chemical Genetics in Yeast for Discovery of Chemical Probes Targeting MetabolismSt.Onge R, Schlecht U, Scharfe C, Evangelista M. Forward Chemical Genetics in Yeast for Discovery of Chemical Probes Targeting Metabolism. Molecules 2012, 17: 13098-13115. PMID: 23128089, PMCID: PMC3539408, DOI: 10.3390/molecules171113098.
SRMA: an R package for resequencing array data analysisZhang N, Xu Y, O'Hely M, Speed TP, Scharfe C, Wang W. SRMA: an R package for resequencing array data analysis. Bioinformatics 2012, 28: 1928-1930. PMID: 22581181, PMCID: PMC3389772, DOI: 10.1093/bioinformatics/bts286.
High-quality DNA sequence capture of 524 disease candidate genesShen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed TP, Mindrinos MN, Scharfe C. High-quality DNA sequence capture of 524 disease candidate genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 6549-6554. PMID: 21467225, PMCID: PMC3080966, DOI: 10.1073/pnas.1018981108.
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencingWang W, Shen P, Thiyagarajan S, Lin S, Palm C, Horvath R, Klopstock T, Cutler D, Pique L, Schrijver I, Davis RW, Mindrinos M, Speed TP, Scharfe C. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. Nucleic Acids Research 2010, 39: 44-58. PMID: 20843780, PMCID: PMC3017602, DOI: 10.1093/nar/gkq750.
Semi-Automated Library Preparation for High-Throughput DNA Sequencing PlatformsFarias-Hesson E, Erikson J, Atkins A, Shen P, Davis RW, Scharfe C, Pourmand N. Semi-Automated Library Preparation for High-Throughput DNA Sequencing Platforms. BioMed Research International 2010, 2010: 617469. PMID: 20625503, PMCID: PMC2896710, DOI: 10.1155/2010/617469.
Mapping Gene Associations in Human Mitochondria using Clinical Disease PhenotypesScharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, Klopstock T, Cowan TM, Enns GM, Davis RW. Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes. PLOS Computational Biology 2009, 5: e1000374. PMID: 19390613, PMCID: PMC2668170, DOI: 10.1371/journal.pcbi.1000374.
Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathySchrijver I, Pique LM, Traynis I, Scharfe C, Sehnert AJ. Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy. Genetics In Medicine 2009, 11: 118-126. PMID: 19265752, DOI: 10.1097/gim.0b013e318190356b.
The Role of Selection in the Evolution of Human Mitochondrial GenomesKivisild T, Shen P, Wall DP, Do B, Sung R, Davis K, Passarino G, Underhill PA, Scharfe C, Torroni A, Scozzari R, Modiano D, Coppa A, de Knijff P, Feldman M, Cavalli-Sforza LL, Oefner PJ. The Role of Selection in the Evolution of Human Mitochondrial Genomes. Genetics 2006, 172: 373-387. PMID: 16172508, PMCID: PMC1456165, DOI: 10.1534/genetics.105.043901.
MitoP2: the mitochondrial proteome database—now including mouse dataProkisch H, Andreoli C, Ahting U, Heiss K, Ruepp A, Scharfe C, Meitinger T. MitoP2: the mitochondrial proteome database—now including mouse data. Nucleic Acids Research 2005, 34: d705-d711. PMID: 16381964, PMCID: PMC1347489, DOI: 10.1093/nar/gkj127.
Proteome analysis of mitochondrial outer membrane from Neurospora crassaSchmitt S, Prokisch H, Schlunck T, Camp DG, Ahting U, Waizenegger T, Scharfe C, Meitinger T, Imhof A, Neupert W, Oefner PJ, Rapaport D. Proteome analysis of mitochondrial outer membrane from Neurospora crassa. Proteomics 2005, 6: 72-80. PMID: 16294304, DOI: 10.1002/pmic.200402084.
Identifying new candidate genes for hereditary facial paresis on chromosome 3q21–q22 by RNA in situ hybridization in mousevan der Zwaag B, Burbach JP, Scharfe C, Oefner PJ, Brunner HG, Padberg GW, van Bokhoven H. Identifying new candidate genes for hereditary facial paresis on chromosome 3q21–q22 by RNA in situ hybridization in mouse. Genomics 2005, 86: 55-67. PMID: 15953540, DOI: 10.1016/j.ygeno.2005.03.007.
Integrative Analysis of the Mitochondrial Proteome in YeastProkisch H, Scharfe C, Camp DG, Xiao W, David L, Andreoli C, Monroe ME, Moore RJ, Gritsenko MA, Kozany C, Hixson KK, Mottaz HM, Zischka H, Ueffing M, Herman ZS, Davis RW, Meitinger T, Oefner PJ, Smith RD, Steinmetz LM. Integrative Analysis of the Mitochondrial Proteome in Yeast. PLOS Biology 2004, 2: e160. PMID: 15208715, PMCID: PMC423137, DOI: 10.1371/journal.pbio.0020160.
MitoP2, an integrated database on mitochondrial proteins in yeast and manAndreoli C, Prokisch H, Hörtnagel K, Mueller JC, Münsterkötter M, Scharfe C, Meitinger T. MitoP2, an integrated database on mitochondrial proteins in yeast and man. Nucleic Acids Research 2004, 32: d459-d462. PMID: 14681457, PMCID: PMC308871, DOI: 10.1093/nar/gkh137.
A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophyHorváth R, Lochmüller H, Scharfe C, Do BH, Oefner PJ, Müller-Höcker J, Schoser BG, Pongratz D, Auer DP, Jaksch M. A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. Journal Of Medical Genetics 2003, 40: 752. PMID: 14569122, PMCID: PMC1735288, DOI: 10.1136/jmg.40.10.752.
Role of duplicate genes in genetic robustness against null mutationsGu Z, Steinmetz LM, Gu X, Scharfe C, Davis RW, Li WH. Role of duplicate genes in genetic robustness against null mutations. Nature 2003, 421: 63-66. PMID: 12511954, DOI: 10.1038/nature01198.
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III geneHorváth R, Scharfe C, Hoeltzenbein M, Do BH, Schröder C, Warzok R, Vogelgesang S, Lochmüller H, Müller-Höcker J, Gerbitz KD, Oefner PJ, Jaksch M. Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. Journal Of Medical Genetics 2002, 39: 812. PMID: 12414820, PMCID: PMC1735018, DOI: 10.1136/jmg.39.11.812.
Systematic screen for human disease genes in yeastSteinmetz LM, Scharfe C, Deutschbauer AM, Mokranjac D, Herman ZS, Jones T, Chu AM, Giaever G, Prokisch H, Oefner PJ, Davis RW. Systematic screen for human disease genes in yeast. Nature Genetics 2002, 31: 400-404. PMID: 12134146, DOI: 10.1038/ng929.
Evolutionary Rate in the Protein Interaction NetworkFraser HB, Hirsh AE, Steinmetz LM, Scharfe C, Feldman MW. Evolutionary Rate in the Protein Interaction Network. Science 2002, 296: 750-752. PMID: 11976460, DOI: 10.1126/science.1068696.
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficienciesJaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R. Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies. Journal Of Medical Genetics 2001, 38: 665. PMID: 11584044, PMCID: PMC1734743, DOI: 10.1136/jmg.38.10.665.
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat proteinPusch C, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi F, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nature Genetics 2000, 26: 324-327. PMID: 11062472, DOI: 10.1038/81627.
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex IScharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. Journal Of Medical Genetics 2000, 37: 669. PMID: 10978358, PMCID: PMC1734685, DOI: 10.1136/jmg.37.9.669.
MITOP, the mitochondrial proteome database: 2000 updateScharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Dembowski M, Lill R, Prokisch H, Gerbitz KD, Neupert W, Mewes HW, Meitinger T. MITOP, the mitochondrial proteome database: 2000 update. Nucleic Acids Research 2000, 28: 155-158. PMID: 10592209, PMCID: PMC102491, DOI: 10.1093/nar/28.1.155.
Correction: The MITOP database – a one-stop shop for mitochondrial informationScharfe C, Zaccaria P, Mewes H, Meitinger T. Correction: The MITOP database – a one-stop shop for mitochondrial information. Trends In Genetics 1999, 15: 82. DOI: 10.1016/s0168-9525(99)01703-5.
MITOP: database for mitochondria-related proteins, genes and diseasesScharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Lill R, Prokisch H, Gerbitz K, Mewes HW, Meitinger T. MITOP: database for mitochondria-related proteins, genes and diseases. Nucleic Acids Research 1999, 27: 153-155. PMID: 9847163, PMCID: PMC148118, DOI: 10.1093/nar/27.1.153.
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted Transmembrane ProteinStrom T, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz K, Meitinger T. Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted Transmembrane Protein. Human Molecular Genetics 1998, 7: 2021-2028. PMID: 9817917, DOI: 10.1093/hmg/7.13.2021.
The MITOP database—a one-stop shop for mitochondrial informationScharfe C. The MITOP database—a one-stop shop for mitochondrial information. Trends In Genetics 1998, 14: 519. DOI: 10.1016/s0168-9525(98)01614-x.
Report of the second international workshop on human chromosome 10 mapping 1997.Meitinger T, Scharfe C, Call K, Moschonas N. Report of the second international workshop on human chromosome 10 mapping 1997. Cytogenetic And Genome Research 1997, 78: 184-94. PMID: 9465886.

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