Michael J. Friez

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 8 papers. Top paper: “Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation”.

Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.10.007

N/A

0DataRank · unranked

25 citations

Taylor Fitzpatrick‐Schmidt, Seul Kee Byeon, Anil K. Madugundu, Mayank Saraswat, Angie Lichty +13 more

ACMG clinical laboratory standards for next-generation sequencing

UNC Libraries(2020)10.17615/bgw9-dv56

N/A

0DataRank · unranked

0 citations

Heidi L. Rehm, Birgit Funke, Madhuri Hegde, Kerry K. Brown, Elaine Lyon +5 more

Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods

Human Mutation(2021)10.1002/humu.24302

N/A

0DataRank · unranked

16 citations

Lora Jh Bean, Izabela Karbassi, Katelynn Beattie, Thierry Bienvenu, Hope Bonin +13 more

Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

Molecular Genetics & Genomic Medicine(2022)10.1002/mgg3.1917

N/A

0DataRank · unranked

23 citations

Kameryn M. Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma +14 more

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

European Journal of Human Genetics(2022)10.1038/s41431-021-01018-1

N/A

0DataRank · unranked

17 citations

Aidin Foroutan, Ellen Richardson, Steven A. Skinner, Jack Reilly, Jennifer Kerkhof +18 more

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in Medicine(2022)10.1016/j.gim.2022.05.009

N/A

0DataRank · unranked

15 citations

Jinwei Zhang, Thomas Besnard, Alfonso Caro‐Llopis, Xue Zeng, Stephanie M. Robert +75 more

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Journal of Clinical Investigation(2023)10.1172/jci165019

N/A

0DataRank · unranked

43 citations

Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi +80 more

Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome

Genes(2024)10.3390/genes15050594

N/A

0DataRank · unranked

8 citations

Xiaolan Fang, Raymond Caylor, Steven A. Skinner, Michael J. Friez, Alan K. Percy +2 more