Gunter Scharer

2.4k citations

29 papers · 1.1k indexed · h-index 17

Clinical Biochemistry top 0.5%
- Metabolism and Genetic Disorders 15
Biochemistry top 2%
- Amino Acid Enzymes and Metabolism 3
Rheumatology top 5%
- Folate and B Vitamins Research 5
Pediatrics, Perinatology and Child Health top 5%
- Neonatal Health and Biochemistry 4
Molecular Biology
- Mitochondrial Function and Pathology 4
- Biochemical and Molecular Research 3
Genetics
- Genomic variations and chromosomal abnormalities 6
- Genomics and Rare Diseases 5

Co-authors: Johan L.K. Van Hove Curtis R. Coughlin Cornelis Jakobs Barbara Plecko Tamim H. Shaikh Geralyn Creadon‐Swindell Elaine Spector Julia B. Hennermann
Cited by: Clinical Biochemistry Biochemistry Rheumatology
Journals: Annals of Neurology (2 papers)The American Journal of Human Genetics (1 paper)Frontiers in Pharmacology (1 paper)
Partner nations: United States Belgium Canada

In The Last Decade

Gunter Scharer

29 papers receiving 1.1k citations

Peers

Countries citing papers authored by Gunter Scharer

Since Specialization

Citations

This map shows the geographic impact of Gunter Scharer's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Gunter Scharer with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Gunter Scharer more than expected).

Fields of papers citing papers by Gunter Scharer

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Gunter Scharer. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Gunter Scharer. The network helps show where Gunter Scharer may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Gunter Scharer, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Gunter Scharer Line = papers co-authored together Gunter Scharer links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Detection of Constitutional Structural Variants by Optical Genome Mapping Journal of Molecular Diagnostics ·Ulrich Broeckel,M. Anwar Iqbal,Brynn Levy,Nikhil Sahajpal,Péter L. Nagy,Gunter Scharer,Vanessa Rodríguez‐Fanjul,Aaron Bossler,Aaron A. Stence,Cindy Skinner,Steven A. Skinner,Ravindra Kolhe,Roger E. Stevenson	2024	8
2	Genome-to-Treatment and Begin Newborn Genomic Screening: A Review of System Guides for the Acute Management and Newborn Screening Follow-up of Genetic Disorders in Infants and Children Medical Research Archives ·Laurie D. Smith,Mary Willis,Annette Feigenbaum,Gunter Scharer,Rebecca Mardach,Christian Holm Hansen,Stephen F. Kingsmore	2023	1
3	Updated DPYDHapB3 haplotype structure and implications for pharmacogenomic testing Clinical and Translational Science ·Amy Turner,Cyrine E. Haidar,Wenjian Yang,Erin C. Boone,Steven M. Offer,Philip E. Empey,Andrew Haddad,Saba Tahir,Gunter Scharer,Ulrich Broeckel,Andrea Gaedigk	2023	23
4	Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing Frontiers in Pharmacology ·Amy Turner,Ashley D. Derezinski,Andrea Gaedigk,Mark E. Berres,David Gregornik,Keith Brown,Ulrich Broeckel,Gunter Scharer	2023	8
5	A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism Journal of Genetics ·Rupa Udani,Kala F. Schilter,Rebecca C. Tyler,Brandon Smith,Jaime L. Wendt-Andrae,Ulrike P. Kappes,Gunter Scharer,Anna Lehman,Michelle Steinraths,Honey V. Reddi	2023	2
6	Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases Journal of Molecular Diagnostics ·M. Anwar Iqbal,Ulrich Broeckel,Brynn Levy,Steven A. Skinner,Nikhil Sahajpal,Vanessa Rodríguez‐Fanjul,Aaron A. Stence,Kamel Awayda,Gunter Scharer,Cindy Skinner,Roger E. Stevenson,Aaron Bossler,Péter L. Nagy,Ravindra Kolhe	2023	23
7	X-Linked Cobalamin Disorder ( HCFC1 ) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid Pediatric Neurology ·Emmanuel Scalais,Elise Osterheld,Christiane Weitzel,Linda De Meırleır,Fréderic Mataigne,Geert A. Martens,Tamim H. Shaikh,Curtis R. Coughlin,Hung‐Chun Yu,Michael A. Swanson,Marisa W. Friederich,Gunter Scharer,Daniel Helbling,Jamie Wendt-Andrae,Johan L.K. Van Hove	2017	10
8	A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib Genetics in Medicine ·Dinel Pond,Florence A. Arts,Nancy J. Mendelsohn,Jean‐Baptiste Demoulin,Gunter Scharer,Yoav H. Messinger	2017	45
9	The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT Genetics in Medicine ·Curtis R. Coughlin,Michael A. Swanson,Kathryn E. Kronquist,Cécile Acquaviva,Tim Hutchin,Pilar Rodríguez‐Pombo,Marja-Leena Väisänen,Elaine Spector,Geralyn Creadon‐Swindell,Ana M. Brás-Goldberg,Elisa Rahikkala,Jukka S. Moilanen,Vincent Mahieu,Gert Matthijs,Irene Bravo‐Alonso,Celia Pérez‐Cerdá,Magdalena Ugarte,Christine Vianey‐Saban,Gunter Scharer,Johan L.K. Van Hove	2016	56
10	The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors Molecular Genetics and Metabolism ·Lori-Anne P. Schillaci,Carol L. Greene,Erin T. Strovel,Jessica Rispoli-Joines,Elaine Spector,Michael Woontner,Gunter Scharer,Gregory M. Enns,Renata C. Gallagher,Arthur B. Zinn,Shawn E. McCandless,Charles L. Hoppel,Stephen I. Goodman,Jirair K. Bedoyan	2016	11
11	A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia Journal of Perinatology ·Gabrielle C. Geddes,David Dimmock,David A. Hehir,Daniel Helbling,Edward C. Kirkpatrick,Rohit S. Loomba,James F. Southern,M Waknitz,Gunter Scharer,Girija G. Konduri	2015	2
12	BAG3 myofibrillar myopathy presenting with cardiomyopathy Neuromuscular Disorders ·Chamindra G. Konersman,Brett J. Bordini,Gunter Scharer,Michael W. Lawlor,Steven Zangwill,James F. Southern,Louella Amos,Gabrielle C. Geddes,Robert M. Kliegman,Michael P. Collins	2015	59
13	Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns Genome Medicine ·Curtis R. Coughlin,Gunter Scharer,Tamim H. Shaikh	2012	42
14	Prediction of long‐term outcome in glycine encephalopathy: a clinical survey Journal of Inherited Metabolic Disease ·Julia B. Hennermann,J L Berger,Ulrike Grieben,Gunter Scharer,Johan L.K. Van Hove	2011	63
15	Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region Clinical Dysmorphology ·Jaffar Alfardan,Kathleen Brown,Janine Gessner,Brenda Lunt,Gunter Scharer	2011	5
16	Neonatal liver failure: a genetic and metabolic perspective Current Opinion in Pediatrics ·Margarita Sáenz,Johan Van Hove,Gunter Scharer	2010	8
17	Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification Molecular Genetics and Metabolism ·Efraim H. Rosenberg,Eduard A. Struys,Keith Hyland,Barbara Plecko,Paula J. Waters,Saadet Mercimek‐Mahmutoglu,Sylvia Stöckler‐Ipsiroglu,Renata C. Gallagher,Gunter Scharer,Johan L.K. Van Hove,Cornelis Jakobs,Gajja S. Salomons	2009	1
18	Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy Annals of Neurology ·Renata C. Gallagher,Johan L.K. Van Hove,Gunter Scharer,Keith Hyland,Barbara Plecko,Paula J. Waters,Saadet Mercimek‐Mahmutoglu,Sylvia Stöckler‐Ipsiroglu,Gajja S. Salomons,Efraim H. Rosenberg,Eduard A. Struys,Cornelis Jakobs	2009	117
19	Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance American Journal of Medical Genetics Part A ·Anne Chun‐Hui Tsai,Chantal F. Morel,Gunter Scharer,Michael Yang,Jordan Lerner‐Ellis,David S. Rosenblatt,Janet A. Thomas	2007	51
20	Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase Endocrine Research ·E Schulze,Gunter Scharer,A. Rogatzki,Lutz Priebe,S. Lewicka,Markus Bettendorf,W Hoepffner,U. Heinrich,Ulrich Schwabe	1995	43

About Gunter Scharer

Gunter Scharer is a scholar working on Clinical Biochemistry, Biochemistry and Rheumatology, having authored 29 papers that have together received 1.1k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (15 papers), Genomic variations and chromosomal abnormalities (6 papers), Genomics and Rare Diseases (5 papers), Folate and B Vitamins Research (5 papers), Mitochondrial Function and Pathology (4 papers), Neonatal Health and Biochemistry (4 papers), Amino Acid Enzymes and Metabolism (3 papers) and Biochemical and Molecular Research (3 papers). The work is most often cited by research in Clinical Biochemistry (583 citations), Biochemistry (233 citations) and Rheumatology (217 citations). Gunter Scharer has collaborated with scholars based in United States, Belgium and Canada. Frequent co-authors include Johan L.K. Van Hove, Curtis R. Coughlin, Cornelis Jakobs, Barbara Plecko, Tamim H. Shaikh, Geralyn Creadon‐Swindell, Elaine Spector, Julia B. Hennermann, Saadet Mercimek‐Mahmutoglu and Ingrid Tein. Their work appears in journals such as Annals of Neurology, The American Journal of Human Genetics and Frontiers in Pharmacology.

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