Lisa A. Schimmenti

Also affiliated with WinnMed, Mayo Clinic in Arizona, Mayo Clinic in Florida

NeuroscienceBiochemistry, 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

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 12 papers. Top paper: “A Primer for Morpholino Use in Zebrafish”.

A Primer for Morpholino Use in Zebrafish

Zebrafish(2009)10.1089/zeb.2008.0555

N/A

0.923DataRank · unranked

468 citations

Andrew M. Petzold, Karl J. Clark, Lisa A. Schimmenti, Stephen C. Ekker, Brent R. Bill

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0.568DataRank · unranked

43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

UNC Libraries(2020)10.17615/tdb3-bx52

N/A

0DataRank · unranked

0 citations

Hemant Bengani, Joseph A. Marsh, Angela M. Kaindl, Koh-ichiro Yoshiura, Katharina Steindl +73 more

New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells

Journal of Neuroscience(2021)10.1523/jneurosci.2537-20.2021

N/A

0DataRank · unranked

39 citations

Lisa A. Schimmenti, Alaa Koleilat, Sami S. Amr, Andrea M. Oza, Amanda Barlow +3 more

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

medRxiv(2021)10.1101/2021.01.27.21250652

N/A

0DataRank · unranked

8 citations

Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill +18 more

Building the vertebrate codex using the gene breaking protein trap library

eLife(2020)10.7554/elife.54572

N/A

0DataRank · unranked

16 citations

MaKayla R. Serres, Rhianna Urban, Mark D. Urban, Anthony J. Treichel, Kyle Schaefbauer +26 more

PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.01.103

N/A

0DataRank · unranked

21 citations

Andrew C. Kim, Karolyn Garcia, Lisa A. Schimmenti, Ellen F. Macnamara, Undiagnosed Diseases Network +4 more

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

medRxiv(2022)10.1101/2022.04.26.22274147

N/A

0DataRank · unranked

0 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +49 more

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63542

N/A

0DataRank · unranked

4 citations

Cheryl L. Khanna, James B. Smadbeck, Sarah H. Johnson, Erick D. Bothun, Tyler Kaplan +12 more

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

Genetics in Medicine(2025)10.1016/j.gim.2025.101392

N/A

0DataRank · unranked

1 citations

Marina T. DiStefano, Andrea M. Oza, Pamela Ajuyah, Ryan Webb, Enyonam Edoh +76 more

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Neurology(2022)10.1212/wnl.0000000000201492

N/A

0DataRank · unranked

24 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +50 more

L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1

Disease Models & Mechanisms(2020)10.1242/dmm.043885

N/A

0DataRank · unranked

10 citations

Joseph Dugdale, Trace A. Christenson, Jeffrey L. Bellah, Aaron Lambert, Mark A. Masino +3 more