Melanie May

2.0k citations

31 papers · 1.3k · h-index 17

Impact in

Genetics top 5%
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
Endocrinology, Diabetes and Metabolism top 5%
- Thyroid Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors

Papers in

Molecular Biology 24
- Congenital heart defects research 6
- RNA modifications and cancer 5
- Ubiquitin and proteasome pathways 4
- RNA Research and Splicing 3
Genetics 21
- Genetics and Neurodevelopmental Disorders 19
- Genomic variations and chromosomal abnormalities 6
- Genomics and Rare Diseases 4
- Neurogenetic and Muscular Disorders Research 3

Co-authors: Charles E. Schwartz (22 shared papers)Roger E. Stevenson (14 shared papers)R. Curtis Rogers (3 shared papers)Herbert A. Lubs (5 shared papers)Fernando Arena (3 shared papers)Lisbeth Tranebjærg (2 shared papers)Richard J. Simensen (3 shared papers)Martin G. Bialer (1 shared paper)
Journals: Journal of Medical Genetics (3 papers)The American Journal of Human Genetics (3 papers)Clinical Genetics (3 papers)Nature Genetics (2 papers)Human Molecular Genetics (2 papers)
Partner nations: United States France Italy

In The Last Decade

Melanie May

30 papers receiving 1.3k citations

Peers

Countries citing papers authored by Melanie May

Since Specialization

Citations

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

Fields of papers citing papers by Melanie May

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Melanie May. 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 Melanie May. The network helps show where Melanie May may publish in the future.

Co-authors

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

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

Showing the 20 most-cited of 31 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene The American Journal of Human Genetics ·Charles E. Schwartz, Melanie May, Nancy J. Carpenter, R. Curtis Rogers, Judith A. Martin, Martin G. Bialer, Jewell C. Ward, Javier Sanabria, Silvana Marsa, James A. Lewis, Roberto J. Echeverri, Herbert A. Lubs, Kytja K. S. Voeller, Richard J. Simensen, Roger E. Stevenson	2005	287
2	A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness Nature Genetics ·Hongjian Jin, Melanie May, Lisbeth Tranebjærg, Elaine Kendall, Gumersindo Fontán, John F. Jackson, S. H. Subramony, Fernando Arena, Herbert A. Lubs, Stephanie Smith, Roger E. Stevenson, Charles E. Schwartz, David Vetrie	1996	199
3	A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome Nature Genetics ·Hiba Risheg, John M. Graham, Robin D. Clark, R. Curtis Rogers, John M. Opitz, John B. Moeschler, Andreas Peiffer, Melanie May, Sumy Joseph, Julie R. Jones, Roger E. Stevenson, Charles E. Schwartz, Michael J. Friez	2007	152
4	A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. Journal of Medical Genetics ·Lisbeth Tranebjærg, Charles E. Schwartz, H Eriksen, Sten Andréasson, Vesna Ponjavic, Andrew Dahl, Roger E. Stevenson, Melanie May, Fernando Arena, David Barker	1995	136
5	Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability Journal of Biological Chemistry ·Krithika Vaidyanathan, Tejasvi Niranjan, Nithya Selvan, Chin Fen Teo, Melanie May, Sneha Patel, Brent Weatherly, Cindy Skinner, John M. Opitz, John C. Carey, David Viskochil, Jozef Gécz, Marie Shaw, Yunhui Peng, Emil Alexov, Tao Wang, Charles E. Schwartz, Lance Wells	2017	80
6	X-Linked MCT8 Gene Mutations: Characterization of the Pediatric Neurologic Phenotype Journal of Child Neurology ·Kenton R. Holden, Oscar F. Zuñiga, Melanie May, Humberto Su, Marco R. Molinero, R. Curtis Rogers, Charles E. Schwartz	2005	71
7	Non‐syndromic X‐linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene Clinical Genetics ·R. David Lebel, Melanie May, S Pouls, HA Lubs, RE Stevenson, CE Schwartz	2002	61
8	Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes PLoS ONE ·Tejasvi Niranjan, Cindy Skinner, Melanie May, Tychele N. Turner, Rebecca Rose, Roger E. Stevenson, Charles E. Schwartz, Tao Wang	2015	39
9	Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome European Journal of Human Genetics ·CE Schwartz, Gabriele Gillessen‐Kaesbach, Melanie May, Marco Cappa, Jerome L. Gorski, Katharina Steindl, Giovanni Neri	2000	39
10	A new X‐linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13 American Journal of Medical Genetics Part A ·John M. Graham, Patricia G. Wheeler, Darci Tackels‐Horne, Angela E. Lin, Bryan D. Hall, Melanie May, Kieran M. Short, Charles E. Schwartz, Timothy C. Cox	2003	27
11	Renpenning Syndrome Maps to Xp11 The American Journal of Human Genetics ·Roger E. Stevenson, J. Fernando Arena, Elizabeth Ouzts, Alice Gibson, M. H. K. Shokeir, Cindy L. Vnencak‐Jones, Herbert A. Lubs, Melanie May, Charles E. Schwartz	1998	26
12	De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity The American Journal of Human Genetics ·Francesca Cristofoli, Tonya Moss, Hannah W. Moore, Koenraad Devriendt, Heather Flanagan‐Steet, Melanie May, Julie R. Jones, Filip Roelens, Carmen Fons, Anna Fernández‐Arévalo, Loreto Martorell, Angelo Selicorni, Silvia Maitz, Giuseppina Vitiello, Gerd Van der Hoeven, Steven A. Skinner, Mathieu Bollen, Joris Vermeesch, Richard Steet, Hilde Van Esch	2020	24
13	Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism Frontiers in Molecular Neuroscience ·Philip Long, Melanie May, Victoria M. James, Simone Grannò, John P. Johnson, Patrick Tarpey, Roger E. Stevenson, Kirsten Harvey, Charles E. Schwartz, Victoria L. Harvey	2016	21
14	Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing Disease Models & Mechanisms ·Elsenoor J. Klaver, Peng Zhao, Melanie May, Heather Flanagan‐Steet, Hudson H. Freeze, Reid Gilmore, Lance Wells, Joseph N. Contessa, Richard Steet	2019	21
15	Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM Human Molecular Genetics ·Melanie May, Laurence Colleaux, Alessandra Murgia, Arthur S. Aylsworth, Robert Nussbaum, Michel Fontes, Charles E. Schwartz	1995	19
16	Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. Journal of Medical Genetics ·Roger E. Stevenson, Bernhard Häne, J. Fernando Arena, Melanie May, Laura Lawrence, Herbert A. Lubs, Charles E. Schwartz	1997	18
17	MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression Human Molecular Genetics ·Lise‐Marie Donnio, Baptiste Bidon, Satoru Hashimoto, Melanie May, Alexey Epanchintsev, Colm J. Ryan, William Allen, Anna Hackett, Jozef Gécz, Cindy Skinner, Roger E. Stevenson, Arjan P.M. de Brouwer, Charles Coutton, Christine Francannet, Pierre‐Simon Jouk, Charles E. Schwartz, Jean‐Marc Egly	2017	17
18	MRX8: An X‐linked mental retardation condition with linkage to Xq21 American Journal of Medical Genetics ·Charles E. Schwartz, Melanie May, Tim H.‐M. Huang, David H. Ledbetter, Gail S. Anderson, David F. Barker, Hebert A. Lubs, Fernando Arena, Roger E. Stevenson	1992	16
19	Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures Clinical Genetics ·Lavanya Jain, Lindsay M. Oberman, Laura Curr Beamer, Lauren Cascio, Melanie May, Sujata Srikanth, Cindy Skinner, Kelly L. Jones, Bridgette Allen, Curtis Rogers, Katy Phelan, Walter E. Kaufmann, Barbara R. DuPont, Sara M. Sarasua, Luigi Boccuto	2021	13
20	Aarskog‐Scott syndrome: Confirmation of linkage to the pericentromeric region of the X chromosome American Journal of Medical Genetics ·Roger E. Stevenson, Melanie May, J. Fernando Arena, Edward A. Millar, Charles I. Scott, Richard J. Schroer, Richard J. Simensen, Herbert A. Lubs, Charles E. Schwartz	1994	12

About Melanie May

Melanie May is a scholar working on Molecular Biology, Genetics, Genetics, Immunology and Surgery, having authored 31 papers that have together received 1.3k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (19 papers), Congenital heart defects research (6 papers), Genomic variations and chromosomal abnormalities (6 papers), RNA modifications and cancer (5 papers), Genomics and Rare Diseases (4 papers), Ubiquitin and proteasome pathways (4 papers), RNA Research and Splicing (3 papers) and Neurogenetic and Muscular Disorders Research (3 papers). The work is most often cited by research in Genetics (523 citations), Endocrinology, Diabetes and Metabolism (292 citations), Clinical Biochemistry (117 citations), Sensory Systems (67 citations) and Molecular Biology (837 citations). Melanie May has collaborated with scholars based in United States, France and Italy. Frequent co-authors include Charles E. Schwartz, Roger E. Stevenson, R. Curtis Rogers, Herbert A. Lubs, Fernando Arena, Lisbeth Tranebjærg, Richard J. Simensen, Martin G. Bialer, Jewell C. Ward and Kytja K. S. Voeller. Their work appears in journals such as Journal of Medical Genetics, The American Journal of Human Genetics, Clinical Genetics, Nature Genetics and Human Molecular 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.

Explore authors with similar magnitude of impact

Melanie May

Impact in

Papers in i

In The Last Decade

Melanie May

Peers

Countries citing papers authored by Melanie May

Fields of papers citing papers by Melanie May

All Works

About Melanie May

Explore authors with similar magnitude of impact

Papers in