Jan M. Friedman

34.0k total citations · 1 hit paper
346 papers, 17.0k citations indexed

About

Jan M. Friedman is a scholar working on Genetics, Neurology and Molecular Biology. According to data from OpenAlex, Jan M. Friedman has authored 346 papers receiving a total of 17.0k indexed citations (citations by other indexed papers that have themselves been cited), including 131 papers in Genetics, 79 papers in Neurology and 72 papers in Molecular Biology. Recurrent topics in Jan M. Friedman's work include Neurofibromatosis and Schwannoma Cases (71 papers), Genomics and Rare Diseases (53 papers) and Genomic variations and chromosomal abnormalities (48 papers). Jan M. Friedman is often cited by papers focused on Neurofibromatosis and Schwannoma Cases (71 papers), Genomics and Rare Diseases (53 papers) and Genomic variations and chromosomal abnormalities (48 papers). Jan M. Friedman collaborates with scholars based in Canada, United States and United Kingdom. Jan M. Friedman's co-authors include Sonja A. Rasmussen, Quanhe Yang, Patricia Birch, Janine E. Polifka, Jacek Szudek, Kimberly Jett, Sura Alwan, Jennita Reefhuis, D. Gareth Evans and Lan Kluwe and has published in prestigious journals such as New England Journal of Medicine, Proceedings of the National Academy of Sciences and The Lancet.

In The Last Decade

Jan M. Friedman

335 papers receiving 16.3k 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.

Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study

2002 607 citations Jan M. Friedman et al. profile →

Peers

Countries citing papers authored by Jan M. Friedman

Since Specialization

Citations

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

Fields of papers citing papers by Jan M. Friedman

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Jan M. Friedman. 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 Jan M. Friedman. The network helps show where Jan M. Friedman may publish in the future.

Co-authorship network of co-authors of Jan M. Friedman

This figure shows the co-authorship network connecting the top 25 collaborators of Jan M. Friedman. A scholar is included among the top collaborators of Jan M. Friedman 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 Jan M. Friedman. Jan M. Friedman 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	Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada 2024 ·JAMA Network Open ·Deirdre Weymann, John Buckell, (unknown), (unknown), (unknown), Samantha Pollard, Jan M. Friedman, Sylvia Stöckler‐Ipsiroglu, Alison M. Elliott, Sarah Wordsworth, James Buchanan, Dean A. Regier	2
2	Workforce Implications of Increased Referrals to Hereditary Cancer Services in Canada: A Scenario-Based Analysis 2023 ·Current Oncology ·Nick Dragojlovic, (unknown), (unknown), Amy Nisselle, (unknown), (unknown), Jan M. Friedman, Alison M. Elliott, Larry D. Lynd	5
3	The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit 2022 ·Genetics in Medicine ·(unknown), Nick Dragojlovic, (unknown), Jan M. Friedman, Horacio Osiovich, Tara Candido, Jan Christilaw, Christèle du Souich, Alison M. Elliott, Daniel M. Evans, Matthew J. Farrer, Ilaria Guella, Anna Lehman, Larry D. Lynd, Leah Tooman	4
4	COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis 2022 ·Genetics in Medicine ·Jineta Banerjee, Jan M. Friedman, Laura J. Klesse, Kaleb Yohay, Justin T. Jordan, Scott R. Plotkin, Robert J. Allaway, Jaishri O. Blakeley	0
5	Where is genetic medicine headed? Exploring the perspectives of Canadian genetic professionals on future trends using the Delphi method 2022 ·European Journal of Human Genetics ·(unknown), (unknown), Nick Dragojlovic, (unknown), Jan M. Friedman, (unknown), Alison M. Elliott, Larry D. Lynd	13
6	Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications 2021 ·Molecular Case Studies ·(unknown), Linlea Armstrong, Cornelius F. Boerkoel, L. Clarke, Christèle du Souich, Michelle Demos, William T. Gibson, Harinder Gill, Elena Lopez‐Rangel, Millan S. Patel, Kathryn Selby, (unknown), (unknown), Alison M. Elliott, Jan M. Friedman	6
7	Toward the diagnosis of rare childhood genetic diseases: what do parents value most? 2021 ·European Journal of Human Genetics ·Samantha Pollard, Deirdre Weymann, Jessica L. Dunne, (unknown), John Buckell, James Buchanan, Sarah Wordsworth, Jan M. Friedman, Sylvia Stöckler‐Ipsiroglu, Nick Dragojlovic, Alison M. Elliott, Mark Harrison, Larry D. Lynd, Dean A. Regier	29
8	The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review 2020 ·Genetics in Medicine ·Nick Dragojlovic, (unknown), (unknown), Ursula Ellis, Patricia Birch, Shelin Adam, Jan M. Friedman, Amy Nisselle, Alison M. Elliott, Larry D. Lynd	83
9	A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8 2019 ·Journal of Human Genetics ·Heba Yasin, William T. Gibson, Sylvie Langlois, Robert Stowe, Erica S. Tsang, (unknown), (unknown), (unknown), Christine Tyson, Chi Kin Wong, Marco A. Marra, Jan M. Friedman, Farah Zahir	25
10	The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders 2019 ·Genetics in Medicine ·(unknown), Clara van Karnebeek, (unknown), (unknown), Ellen Kim, Patricia Birch, Shelin Adam, (unknown), Christèle du Souich, Alison M. Elliott, Anna Lehman, Larry D. Lynd, Jill Mwenifumbo, Tanya N. Nelson, Jan M. Friedman, (unknown)	34
11	Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders 2018 ·Journal of Evaluation in Clinical Practice ·Nick Dragojlovic, Ellen Kim, Alison M. Elliott, (unknown), Jan M. Friedman, Larry D. Lynd	7
12	Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes 2016 ·American Journal of Medical Genetics Part A ·Farah Zahir, Tracy Tucker, Sonia Mayo, Carolyn J. Brown, Emilia L. Lim, Jonathan Taylor, Marco A. Marra, Fadi F. Hamdan, Jacques L. Michaud, Jan M. Friedman	12
13	Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1 2015 ·American Journal of Medical Genetics Part A ·Kimberly Jett, Rosa Nguyen, (unknown), Patricia Birch, (unknown), Said Farschtschi, (unknown), Lan Kluwe, Jan M. Friedman, Victor F. Mautner	5
14	Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes 2013 ·European Journal of Human Genetics ·Tracy Tucker, Farah Zahir, Malachi Griffith, Allen Delaney, David Chai, Erica S. Tsang, Emmanuelle Lemyre, Sylvia Dobrzeniecka, Marco A. Marra, Patrice Eydoux, Sylvie Langlois, Fadi F. Hamdan, Jacques L. Michaud, Jan M. Friedman	30
15	Approaches to Treating NF1 Tibial Pseudarthrosis 2013 ·Journal of Pediatric Orthopaedics ·David A. Stevenson, David G. Little, Linlea Armstrong, Alvin H. Crawford, Deborah M. Eastwood, Jan M. Friedman, Tiziana Greggi, Gloria E. Gutierrez, Kim Hunter‐Schaedle, David L. Kendler, Mateusz Kolanczyk, Fergal Monsell, Matthew E. Oetgen, B. Stephens Richards, Aaron Schindeler, Elizabeth K. Schorry, David Wilkes, David Viskochil, Feng‐Chun Yang, Florent Elefteriou	44
16	Vertebral scalloping in neurofibromatosis type 1: a quantitative approach. 2002 ·Europe PMC (PubMed Central) ·Edmund Kwok, Bonita Sawatzky, Patricia Birch, Jan M. Friedman, Stephen J. Tredwell	6
17	ASHG/NSGC activities related to education : workshop on human genetics education 1991 ·The American Journal of Human Genetics ·Jan M. Friedman, Miriam G. Blitzer	0
18	Biochemical abnormalities in rhizomelic chondrodysplasia punctata 1988 ·The Journal of Pediatrics ·Gerald Höefler, Sigrid Hoefler, Paul A. Watkins, Winston W. Chen, Ann B. Moser, Virginia J. Baldwin, (unknown), Joel Charrow, Jan M. Friedman, (unknown), Takashi Hashimoto, Hugo W. Moser	112
19	Genetics and birth defects in clinical practice 1984 ·The American Journal of Human Genetics ·Jan M. Friedman	3
20	Experiments and the concept of immunological surveillance 1976 ·Munksgaard eBooks ·Jan M. Friedman, Göran Möller	5

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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