Michael J. Friez

6.2k total citations · 1 hit paper
82 papers, 3.1k citations indexed

About

Michael J. Friez is a scholar working on Genetics, Molecular Biology and Cognitive Neuroscience. According to data from OpenAlex, Michael J. Friez has authored 82 papers receiving a total of 3.1k indexed citations (citations by other indexed papers that have themselves been cited), including 54 papers in Genetics, 44 papers in Molecular Biology and 17 papers in Cognitive Neuroscience. Recurrent topics in Michael J. Friez's work include Genetics and Neurodevelopmental Disorders (41 papers), Autism Spectrum Disorder Research (17 papers) and Genomic variations and chromosomal abnormalities (12 papers). Michael J. Friez is often cited by papers focused on Genetics and Neurodevelopmental Disorders (41 papers), Autism Spectrum Disorder Research (17 papers) and Genomic variations and chromosomal abnormalities (12 papers). Michael J. Friez collaborates with scholars based in United States, United Kingdom and Belgium. Michael J. Friez's co-authors include Charles E. Schwartz, Roger E. Stevenson, Elaine Lyon, Jonathan S. Berg, Heidi L. Rehm, Kerry K. Brown, Joshua L. Deignan, Sherri J. Bale, Birgit Funke and Madhuri Hegde and has published in prestigious journals such as New England Journal of Medicine, Proceedings of the National Academy of Sciences and Nature Genetics.

In The Last Decade

Michael J. Friez

80 papers receiving 3.0k 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.

ACMG clinical laboratory standards for next-generation sequencing

2013 631 citations Michael J. Friez et al. Genetics in Medicine profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Michael J. Friez United States	25	1.7k	1.6k	425	292	250	82	3.1k
Cédric Le Caignec France	29	1.7k 1.0×	1.5k 0.9×	99 0.2×	256 0.9×	237 0.9×	76	3.1k
John Dean United Kingdom	30	1.3k 0.8×	1.4k 0.9×	267 0.6×	124 0.4×	307 1.2×	103	3.5k
Silvia Russo Italy	30	1.9k 1.1×	1.9k 1.2×	271 0.6×	123 0.4×	166 0.7×	136	3.3k
Jeffrey W. Innis United States	30	2.5k 1.5×	1.3k 0.8×	173 0.4×	118 0.4×	105 0.4×	90	3.5k
Seiichi Matsui Japan	25	1.4k 0.8×	573 0.4×	143 0.3×	307 1.1×	251 1.0×	101	2.5k
Jürgen Horst Germany	27	1.7k 1.0×	1.1k 0.7×	205 0.5×	94 0.3×	87 0.3×	74	2.9k
Wilbur R. Harrison United States	25	1.5k 0.9×	1.1k 0.7×	64 0.2×	161 0.6×	372 1.5×	49	2.7k
Damien Sanlaville France	33	1.6k 0.9×	2.2k 1.3×	305 0.7×	154 0.5×	96 0.4×	189	3.7k
Stephanie Halford United Kingdom	32	2.0k 1.2×	893 0.6×	52 0.1×	91 0.3×	124 0.5×	75	3.3k
Barbara R. DuPont United States	25	1.9k 1.1×	1.3k 0.8×	199 0.5×	105 0.4×	50 0.2×	91	3.3k

Countries citing papers authored by Michael J. Friez

Since Specialization

Citations

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

Fields of papers citing papers by Michael J. Friez

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Michael J. Friez. 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 Michael J. Friez. The network helps show where Michael J. Friez may publish in the future.

Co-authorship network of co-authors of Michael J. Friez

This figure shows the co-authorship network connecting the top 25 collaborators of Michael J. Friez. A scholar is included among the top collaborators of Michael J. Friez 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 Michael J. Friez. Michael J. Friez 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

Sahajpal, Nikhil, Jane H. Dean, Benjamin Hilton, et al.. (2025). Optical genome mapping identifies rare structural variants in neural tube defects. Genome Research. 35(4). 798–809.

Alesi, Viola, Charles E. Schwartz, Cindy Skinner, et al.. (2024). PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports. Frontiers in Psychiatry. 14. 1327802–1327802. 1 indexed citations

Schwartz, Charles E., Raymond J. Louie, Annick Toutain, et al.. (2022). X‐Linked intellectual disability update 2022. American Journal of Medical Genetics Part A. 191(1). 144–159. 13 indexed citations

Mikhael, Sasha, Lynn P. Chorich, Amy C. Lossie, et al.. (2021). Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome. Human Genetics. 140(4). 667–680. 19 indexed citations

Louie, Raymond J., Debra L. Collins, Michael J. Friez, et al.. (2020). Schimke XLID syndrome results from a deletion in BCAP31. American Journal of Medical Genetics Part A. 182(9). 2168–2174. 7 indexed citations

Chaubey, Alka, Lawrence M. Roth, Stanley J. Robboy, et al.. (2019). Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii. Cytogenetic and Genome Research. 160(1). 2–10. 9 indexed citations

Louie, Raymond J., Michael J. Friez, Jaime L. Frías, et al.. (2018). Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations. Clinical Case Reports. 6(11). 2252–2255. 7 indexed citations

Langley, Katherine G., et al.. (2015). Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. American Journal of Medical Genetics Part A. 167(12). 3180–3185. 14 indexed citations

Lindy, Amanda, et al.. (2014). Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani–Lenz syndrome. American Journal of Medical Genetics Part A. 164(9). 2391–2397. 18 indexed citations

10.

Plummer, Jasmine, Oleg V. Evgrafov, Mica Y. Bergman, et al.. (2013). Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome. Translational Psychiatry. 3(10). e316–e316. 30 indexed citations

11.

Basehore, Monica J., et al.. (2012). Validation of a Screening Tool for the Rapid and Reliable Detection of CGG Trinucleotide Repeat Expansions in FMR1. Genetic Testing and Molecular Biomarkers. 16(6). 465–470. 6 indexed citations

12.

Saunders, Carol, et al.. (2010). Allele Drop-Out in the MECP2 Gene Due to G-Quadruplex and i-Motif Sequences When Using Polymerase Chain Reaction-Based Diagnosis for Rett Syndrome. Genetic Testing and Molecular Biomarkers. 14(2). 241–247. 10 indexed citations

13.

Basehore, Monica J. & Michael J. Friez. (2009). Molecular Analysis of Fragile X Syndrome. Current Protocols in Human Genetics. 63(1). 9.5.1–9.5.19. 6 indexed citations

14.

Lyons, Michael J., John M. Graham, Giovanni Neri, et al.. (2008). Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. Journal of Medical Genetics. 46(1). 9–13. 18 indexed citations

15.

Wallerstein, Robert, et al.. (2008). Expansion of the ARX spectrum. Clinical Neurology and Neurosurgery. 110(6). 631–634. 27 indexed citations

16.

Ding, Ning, Haiying Zhou, Hang Gyeong Chin, et al.. (2008). Mediator Links Epigenetic Silencing of Neuronal Gene Expression with X-Linked Mental Retardation. Molecular Cell. 31(3). 347–359. 186 indexed citations

17.

Bauters, Marijke, Hilde Van Esch, Michael J. Friez, et al.. (2008). Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Research. 18(6). 847–858. 92 indexed citations

18.

Monaghan, Kristin G., W. Edward Highsmith, J. Amos, et al.. (2004). Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study. Genetics in Medicine. 6(5). 421–425. 24 indexed citations

19.

Bagwell, Christopher E., et al.. (2002). Molecular diversity of diazotrophs in oligotrophic tropical seagrass bed communities. FEMS Microbiology Ecology. 39(2). 113–119. 67 indexed citations

20.

Michaelis, Ron C., Khalid Sossey‐Alaoui, Cindy Skinner, et al.. (2000). The HOPA Gene Dodecamer Duplication Is Not a Significant Etiological Factor in Autism. Journal of Autism and Developmental Disorders. 30(4). 355–358. 9 indexed citations

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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