Laurie H. Seaver

Also affiliated with Helen DeVos Children's Hospital, Michigan State University

Biochemistry, Genetics and Molecular Biology

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 7 papers. Top paper: “Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5”.

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Carolina Digital Repository (University of North Carolina at Chapel Hill)(2020)10.17615/x8dg-7b55

N/A

0DataRank · unranked

0 citations

Alan Fryer, Koenraad Devriendt, Richard H. Scott, Jules G. Leroy, Ingrid P.C. Krapels +27 more

A dyadic approach to the delineation of diagnostic entities in clinical genomics

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.11.013

N/A

0DataRank · unranked

116 citations

Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck +42 more

PTPN4 germline variants result in aberrant neurodevelopment and growth

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100033

N/A

0DataRank · unranked

6 citations

Deepika Burkardt, Jorge L. Granadillo, Rachel Slaugh, Shamile Morgan, Joshua Rotenberg +11 more

N‐methyl‐d‐aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62554

N/A

0DataRank · unranked

3 citations

Angel Hernandez, Stephanie M. Bilinovich, Daniel Vogt, Laura Bedinger, Laurie H. Seaver +6 more

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.007

N/A

0DataRank · unranked

8 citations

Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns +30 more

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63130

N/A

0DataRank · unranked

3 citations

Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee +34 more

C1GALT1C1 ‐Associated Mosaic Disorder of Glycosylation in a Female

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70006

N/A

0DataRank · unranked

1 citations

Aditya Ramanujan, Camille Bucci, Christian Neckelmann, Jamie Heimburg‐Molinaro, Sandra F. Cummings +5 more