Melanie Pepin

6.9k citations

34 papers · 2.9k indexed · 1 hit paper · h-index 25

Genetics top 0.5%
Pulmonary and Respiratory Medicine top 5%
Rheumatology top 1%
Molecular Biology
Surgery top 10%

Co-authors: Peter H. Byers Ulrike Schwarze Andrea Superti‐Furga Dru F. Leistritz Shawna M. Pyott Mitzi L. Murray David Whiteman Kathryn N. North
Topics: Connective tissue disorders research (28 papers)Bone fractures and treatments (8 papers)Bone and Dental Protein Studies (6 papers)
Cited by: Genetics Rheumatology Pulmonary and Respiratory Medicine
Journals: New England Journal of MedicineSHILAP Revista de lepidopterologíaAnnals of Neurology
Partner nations: United States Canada Switzerland

In The Last Decade

Melanie Pepin

34 papers receiving 2.8k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

2000 814 citations Melanie Pepin, Ulrike Schwarze et al. New England Journal of Medicine profile →

Peers

Countries citing papers authored by Melanie Pepin

Since Specialization

Citations

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

Fields of papers citing papers by Melanie Pepin

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Melanie Pepin

This figure shows the co-authorship network connecting the top 25 collaborators of Melanie Pepin. A scholar is included among the top collaborators of Melanie Pepin based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Melanie Pepin. Melanie Pepin is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta 2021 ·SHILAP Revista de lepidopterología ·Thao Tran,Rachel B. Keller,Brecht Guillemyn,Melanie Pepin,Jane E. Corteville,Samir Khatib,Mohammad‐Sadegh Fallah,Sirous Zeinali,Fransiska Malfait,Sofie Symoens,Paul Coucke,Peter Witters,Elena Levtchenko,(unknown),Deborah A. Nickerson,Michael J. Bamshad,Jessica X. Chong,Peter H. Byers	6
2	Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center 2018 ·Journal of Vascular Surgery ·(unknown),Peter H. Byers,Elina Quiroga,Melanie Pepin,Sherene Shalhub	18
3	Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome 2017 ·American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Peter H. Byers,John W. Belmont,James H. Black,Julie De Backer,Michael Frank,Xavier Jeunemaı̂tre,Diana Johnson,Melanie Pepin,Leema Robert,(unknown),Nigel Wheeldon	221
4	What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases 2015 ·American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Melanie Pepin,Peter H. Byers	23
5	Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta 2015 ·Genetics in Medicine ·(unknown),Mahim Jain,David Cuthbertson,Deborah Krakow,Jay R. Shapiro,Robert D. Steiner,Peter A. Smith,Michael B. Bober,Tracy Hart,(unknown),(unknown),Peter H. Byers,Melanie Pepin,Michaela Durigova,Francis H. Glorieux,Frank Rauch,V. Reid Sutton,B. Lee,Sandesh C.S. Nagamani	31
6	The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories 2015 ·Genetics in Medicine ·Melanie Pepin,Mitzi L. Murray,S.S. Bailey,(unknown),Ulrike Schwarze,Peter H. Byers	44
7	Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV) 2014 ·Genetics in Medicine ·Melanie Pepin,Ulrike Schwarze,Kenneth Rice,(unknown),Dru F. Leistritz,Peter H. Byers	176
8	Pregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome 2014 ·Genetics in Medicine ·Mitzi L. Murray,Melanie Pepin,Suzanne E. Peterson,Peter H. Byers	101
9	Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family 2014 ·European Journal of Human Genetics ·(unknown),Toril Fagerheim,Svend Rand‐Hendriksen,(unknown),(unknown),Melanie Pepin,Dru F. Leistritz,Peter H. Byers	24
10	WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta 2013 ·The American Journal of Human Genetics ·Shawna M. Pyott,Thao Tran,Dru F. Leistritz,Melanie Pepin,Nancy J. Mendelsohn,Renee Temme,Bridget A. Fernandez,Solaf M. Elsayed,Ezzat Elsobky,I. C. Verma,(unknown),Emily H. Turner,Joshua D. Smith,Gail P. Jarvik,Peter H. Byers	170
11	Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance 2011 ·Genetics in Medicine ·Shawna M. Pyott,Melanie Pepin,Ulrike Schwarze,(unknown),(unknown),Peter H. Byers	44
12	Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta 2010 ·The American Journal of Human Genetics ·Helena E. Christiansen,Ulrike Schwarze,Shawna M. Pyott,Abdulrahman Alswaid,Mohammed Al Balwi,(unknown),Melanie Pepin,Mary Ann Weis,David R. Eyre,Peter H. Byers	228
13	MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV 2007 ·International journal of cardiac imaging ·William Kerwin,Melanie Pepin,Lee M. Mitsumori,Vasily L. Yarnykh,Ulrike Schwarze,Peter H. Byers	13
14	Genetic evaluation of suspected osteogenesis imperfecta (OI) 2006 ·Genetics in Medicine ·Peter H. Byers,Deborah Krakow,Mark E. Nuñes,Melanie Pepin	57
15	Spontaneous Direct Carotid-Cavernous Fistula in Ehlers-Danlos Syndrome Type IV: Two Case Reports and a Review of the Literature 2002 ·Journal of Neuro-Ophthalmology ·(unknown),Jonathan D. Trobe,Elizabeth M. Petty,Ulrike Schwarze,Melanie Pepin,Peter H. Byers,John P. Deveikis	51
16	Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV 2001 ·The American Journal of Human Genetics ·Ulrike Schwarze,Wouter I. Schievink,Elizabeth M. Petty,Michael R. Jaff,Dusica Babovic‐Vuksanovic,Kenneth J. Cherry,Melanie Pepin,Peter H. Byers	138
17	Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Typebreakdown → 2000 ·New England Journal of Medicine ·Melanie Pepin,Ulrike Schwarze,Andrea Superti‐Furga,Peter H. Byers	814
18	Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta 1996 ·The Journal of Pediatrics ·Robert D. Steiner,Melanie Pepin,Peter H. Byers	49
19	Cerebrovascular complications in Ehlers‐Danlos syndrome type IV 1995 ·Annals of Neurology ·Kathryn N. North,David Whiteman,Melanie Pepin,Peter H. Byers	120
20	Family studies in tuberous sclerosis. evaluation of apparently unaffected parents. 1983 ·PubMed ·Suzanne B. Cassidy,Roberta A Pagon,Melanie Pepin,Joel D. Blumhagen	31

About Melanie Pepin

Melanie Pepin is a scholar working on Genetics, Rheumatology and Immunology and Allergy, having authored 34 papers that have together received 2.9k indexed citations. Recurring topics across this work include Connective tissue disorders research (28 papers), Bone fractures and treatments (8 papers) and Bone and Dental Protein Studies (6 papers). The work is most often cited by research in Genetics (2.2k citations), Rheumatology (660 citations) and Pulmonary and Respiratory Medicine (667 citations). Melanie Pepin has collaborated with scholars based in United States, Canada and Switzerland. Frequent co-authors include Peter H. Byers, Ulrike Schwarze, Andrea Superti‐Furga, Dru F. Leistritz, Shawna M. Pyott, Mitzi L. Murray, David Whiteman, Kathryn N. North, Kenneth Rice and David R. Eyre. Their work appears in journals such as New England Journal of Medicine, SHILAP Revista de lepidopterología and Annals of Neurology.

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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