Mark B. Consugar

4k citations

31 papers · 3.3k · h-index 27

Impact in

Genetics top 1%
- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
Molecular Biology top 10%
- Retinal Development and Disorders
- Mitochondrial Function and Pathology

Papers in

Genetics 17
- Genetic and Kidney Cyst Diseases 14
- Genomics and Rare Diseases 3
Molecular Biology 9
- Mitochondrial Function and Pathology 4
- Retinal Development and Disorders 4
- RNA and protein synthesis mechanisms 1

Co-authors: Peter C. Harris (13 shared papers)Sandro Rossetti (11 shared papers)Vicente E. Torres (10 shared papers)Vickie J. Kubly (6 shared papers)Eric A. Pierce (7 shared papers)Lisa M. Guay‐Woodford (2 shared papers)Arlene B. Chapman (2 shared papers)Catherine M. Meyers (2 shared papers)
Journals: Kidney International (4 papers)Human Molecular Genetics (3 papers)Journal of the American Society of Nephrology (3 papers)American Journal of Kidney Diseases (2 papers)Nature Genetics (2 papers)
Partner nations: United States United Kingdom Italy

In The Last Decade

Mark B. Consugar

31 papers receiving 3.1k citations

Peers

Countries citing papers authored by Mark B. Consugar

Since Specialization

Citations

This map shows the geographic impact of Mark B. Consugar'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 Mark B. Consugar with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Mark B. Consugar more than expected).

Fields of papers citing papers by Mark B. Consugar

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Mark B. Consugar. 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 Mark B. Consugar. The network helps show where Mark B. Consugar may publish in the future.

Co-authors

The 25 scholars most cited alongside Mark B. Consugar, 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 Mark B. Consugar Line = papers co-authored together Mark B. Consugar links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

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#	Work
1	Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease Journal of the American Society of Nephrology ·Sandro Rossetti, Mark B. Consugar, Arlene B. Chapman, Vicente E. Torres, Lisa M. Guay‐Woodford, Jared J. Grantham, William M. Bennett, Catherine M. Meyers	2007	368
2	Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease Kidney International ·Sandro Rossetti, Vickie J. Kubly, Mark B. Consugar, Katharina Hopp, Sharon W. Horsley, Dominique Chauveau, T M Barratt, William van’t Hoff	2009	254
3	The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat Nature Genetics ·Ursula M. Smith, Mark B. Consugar, Louise J. Tee, Brandy M McKee, Esther N. Maina, Shelly L. Whelan, Neil V. Morgan, Erin Goranson	2006	240
4	Cyst Number but Not the Rate of Cystic Growth Is Associated with the Mutated Gene in Autosomal Dominant Polycystic Kidney Disease Journal of the American Society of Nephrology ·Peter C. Harris, Kyongtae T. Bae, Sandro Rossetti, Vicente E. Torres, Jared J. Grantham, Arlene B. Chapman, Lisa M. Guay‐Woodford, Bernard F. King	2006	221
5	Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing Genetics in Medicine ·Mark B. Consugar, Daniel Navarro-Gomez, Emily Place, Kinga M. Bujakowska, Maria E Sousa, Zoë Fonseca-Kelly, Daniel G. Taub, Maria Janessian	2014	211
6	Clinical and Molecular Characterization Defines a Broadened Spectrum of Autosomal Recessive Polycystic Kidney Disease (ARPKD) Medicine ·Magdalena Adeva, Mounif El‐Youssef, Sandro Rossetti, Patrick S. Kamath, Vickie J. Kubly, Mark B. Consugar, Dawn M. Milliner, Bernard F. King	2006	209
7	NMNAT1 mutations cause Leber congenital amaurosis Nature Genetics ·Marni J. Falk, Qi Zhang, Eiko Nakamaru‐Ogiso, Chitra Kannabiran, Zoë Fonseca-Kelly, Christina F. Chakarova, Isabelle S. Audo, Donna S. Mackay	2012	171
8	Loss of Polycystin-1 in Human Cyst-Lining Epithelia Leads to Ciliary Dysfunction Journal of the American Society of Nephrology ·Surya M. Nauli, Sandro Rossetti, Robert J. Kolb, Francis J. Alenghat, Mark B. Consugar, Peter C. Harris, Donald E. Ingber, Mahmoud Loghman‐Adham	2006	164
9	Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy The American Journal of Human Genetics ·Xiaowu Gai, Daniele Ghezzi, Mark A. Johnson, Caroline Biagosch, Hanan E. Shamseldin, Tobias B. Haack, Aurelio Reyes, Mai Tsukikawa	2013	147
10	Renal Phosphate Wasting in Fibrous Dysplasia of Bone Is Part of a Generalized Renal Tubular Dysfunction Similar to That Seen in Tumor-Induced Osteomalacia Journal of Bone and Mineral Research ·Michael Terrence Collins, Caroline M. Chebli, Janet M. Jones, Harvey Kushner, Mark B. Consugar, Piero Rinaldo, Shlomo Wientroub, Paolo Bianco	2001	144
11	Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes BMC Genomics ·Michael H. Farkas, Gregory R. Grant, Joseph White, Maria E Sousa, Mark B. Consugar, Eric A. Pierce	2013	138
12	Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome Human Molecular Genetics ·Kinga M. Bujakowska, Qi Zhang, Anna M. Siemiatkowska, Qin Liu, Emily Place, Marni J. Falk, Mark B. Consugar, Marie‐Elise Lancelot	2014	132
13	Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome Kidney International ·Mark B. Consugar, Patrick A. Lundquist, Sandro Rossetti, Vickie J. Kubly, Denise L. Walker, Laureano J. Rangel, Richard Aspinwall, W. Patrick Niaudet	2008	116
14	A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees Kidney International ·Sandro Rossetti, Roser Torrá, Eliécer Coto, Mark B. Consugar, Vickie J. Kubly, S Málaga, Mercedes Navarro, Mounif El‐Youssef	2003	104
15	B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis Human Molecular Genetics ·Katharina Hopp, Christina M. Heyer, Cynthia J. Sieben, Susan A. Henke, Jamie L. Sundsbak, Shail Patel, Priyanka Patel, Mark B. Consugar	2011	66
16	Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3 Human Genetics ·Mark B. Consugar, Vickie J. Kubly, Donna J. Lager, Cynthia J. Sieben, Egbert Bakker, Vincent H. Gattone, Vicente E. Torres, Martijn H. Breuning	2007	65
17	Self-hydroxylation of perbenzoic acids at a nonheme iron(ii) center Chemical Communications ·Na Young Oh, Mi Sook Seo, Mi Hee Lim, Mark B. Consugar, Mi Joo Park, Jan‐Uwe Rohde, Jaehong Han, Kwan Mook Kim	2005	60
18	Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations Genetics in Medicine ·Kinga M. Bujakowska, Rosario Fernández‐Godino, Emily Place, Mark B. Consugar, Daniel Navarro-Gomez, Joseph White, Emma C. Bedoukian, Xiaosong Zhu	2016	52
19	USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis Human Molecular Genetics ·Emanuele Barca, Rebecca D. Ganetzky, Prasanth Potluri, Martí Juanola‐Falgarona, Xiaowu Gai, Dong Li, Chaim Jalas, Yoel Hirsch	2018	50
20	Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome. PubMed ·Marni J. Falk, Eric A. Pierce, Mark B. Consugar, Hongbo Michael Xie, Moraima Guadalupe, Owen Hardy, Eric F. Rappaport, Douglas C. Wallace	2012	47

About Mark B. Consugar

Mark B. Consugar is a scholar working on Genetics, Molecular Biology, Nephrology, Ophthalmology and Inorganic Chemistry, having authored 31 papers that have together received 3.3k indexed citations. Recurring topics across this work include Genetic and Kidney Cyst Diseases (14 papers), Mitochondrial Function and Pathology (4 papers), Retinal Development and Disorders (4 papers), Genomics and Rare Diseases (3 papers), Retinal Diseases and Treatments (2 papers), RNA and protein synthesis mechanisms (1 paper), Metabolism and Genetic Disorders (1 paper) and Renal Diseases and Glomerulopathies (1 paper). The work is most often cited by research in Genetics (2k citations), Molecular Biology (814 citations), Nephrology (122 citations), Clinical Biochemistry (56 citations) and Geriatrics and Gerontology (32 citations). Mark B. Consugar has collaborated with scholars based in United States, United Kingdom and Italy. Frequent co-authors include Peter C. Harris, Sandro Rossetti, Vicente E. Torres, Vickie J. Kubly, Eric A. Pierce, Lisa M. Guay‐Woodford, Arlene B. Chapman, Catherine M. Meyers, Kyongtae T. Bae and Jared J. Grantham. Their work appears in journals such as Kidney International, Human Molecular Genetics, Journal of the American Society of Nephrology, American Journal of Kidney Diseases and Nature Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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