2026 Lisa G. Shaffer: Genetics Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Genetics	104	652	618	328	307	388	36069

Overview

Lisa G. Shaffer is affiliated with Paw Print Genetics in the United States and contributes within the fields of Biochemistry, Genetics, and Molecular Biology. Their research focuses notably on Molecular Biology, Genetics, and related subfields such as General Health Professions, Equine studies, and Rheumatology.

The scientist's principal research topics include genomic variations and chromosomal abnormalities, Wnt/β-catenin signaling in development and cancer, fibroblast growth factor research, epigenetics and DNA methylation, RNA modifications and cancer, veterinary equine medical research, and osteoarthritis treatment and mechanisms.

Areas of work have led to publications primarily in the journal Human Genetics, where the majority of contributions appear, with additional work appearing in UNC Libraries, BMC Health Services Research, Research Square, and the Journal of Applied Genetics.

Genomic variations and chromosomal abnormalities
Wnt/β-catenin signaling in development and cancer
Fibroblast Growth Factor Research
Epigenetics and DNA Methylation
RNA modifications and cancer
Veterinary Equine Medical Research
Osteoarthritis Treatment and Mechanisms

Notable publications by Lisa G. Shaffer include:

Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat, 2021, Human Genetics
Radiographical Survey of Osteochondrodysplasia in Scottish Fold Cats caused by the TRPV4 gene variant, 2021, Human Genetics
Identification of aneuploidy in dogs screened by a SNP microarray, 2021, Human Genetics
The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding, 2021, Human Genetics
Readiness for scale up following effectiveness-implementation trial: results of scalability assessment of the Community Partnership Program for diabetes self-management for older adults with multiple chronic conditions, 2025, BMC Health Services Research

Frequent coauthors with whom Lisa G. Shaffer has collaborated include Blake C. Ballif, Helen Flores-Smith, Griffin D. Shaffer, Kathryn M. Meurs, and Jill A. Rosenfeld.

This profile reflects a multidisciplinary approach within genetics and molecular biology, integrating veterinary genetics and human health research. The scientist's body of work contributes to various aspects of genetic variation and molecular mechanisms in both veterinary and medical contexts.

Best Publications

ISCN 2005: An International System for Human Cytogenetic Nomenclature (2005): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature

Lisa G. Shaffer;Niels Tommerup

2241
Citations
Chromosome Abnormalities and Genetic Counseling

R. J. M. Gardner;Grant R. Sutherland;Lisa G. Shaffer

1792
Citations
Chromosomal microarray versus karyotyping for prenatal diagnosis

Ronald J. Wapner;Christa Lese Martin;Brynn Levy;Blake C. Ballif

1597
Citations
A copy number variation morbidity map of developmental delay

Gregory M Cooper;Bradley P Coe;Santhosh Girirajan;Jill A Rosenfeld

1424
Citations
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

655
Citations
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Michael E. Talkowski;Jill A. Rosenfeld;Ian Blumenthal;Vamsee Pillalamarri

643
Citations
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan;Jill A. Rosenfeld;Bradley P. Coe;Sumit Parikh

624
Citations
Molecular Mechanisms for Constitutional Chromosomal Rearrangements in Humans

Lisa G. Shaffer;James R. Lupski

507
Citations
Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

Megan Y. Dennis;Xander Nuttle;Peter H. Sudmant;Francesca Antonacci

482
Citations
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Jan O. Korbel;Tal Tirosh-Wagner;Alexander Eckehart Urban;Xiao Ning Chen

442
Citations
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Paweł Stankiewicz;Partha Sen;Samarth S. Bhatt;Mekayla Storer

428
Citations
ISCN 2009 - An International System for Human Cytogenetic Nomenclature

Marilyn L. Slovak;Lisa G. Shaffer

403
Citations
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.

Lorraine Potocki;Ken Shiung Chen;Sung Sup Park;Doreen E. Osterholm

392
Citations
Detection of low-level mosaicism by array CGH in routine diagnostic specimens.

Blake C. Ballif;Emily A. Rorem;Kyle Sundin;Matt Lincicum

388
Citations
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

Heidi A. Heilstedt;Blake C. Ballif;Leslie A. Howard;Richard A. Lewis

359
Citations
Estimates of penetrance for recurrent pathogenic copy-number variations.

Jill A. Rosenfeld;Bradley P. Coe;Evan E. Eichler;Howard Cuckle

351
Citations
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

Angela L Duker;Blake C Ballif;Erawati V Bawle;Richard E Person

340
Citations
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

E Nickerson;F Greenberg;M T Keating;C McCaskill

330
Citations
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.

Blake C Ballif;Aaron Theisen;Justine Coppinger;Gordon C Gowans

318
Citations
Corrigendum: A copy number variation morbidity map of developmental delay

Gregory M Cooper;Bradley P Coe;Santhosh Girirajan;Jill A Rosenfeld

7
Citations

Frequent Co-Authors

Jill A. Rosenfeld Baylor College of Medicine

Blake C. Ballif Paw Print Genetics

Bassem A. Bejjani Metis Genetics

James F. Gusella Harvard University

Cynthia C. Morton Brigham and Women's Hospital

Yiping Shen Boston Children's Hospital

David Chitayat University of Toronto

Michael E. Talkowski Harvard University

Pawel Stankiewicz Baylor College of Medicine

Evan E. Eichler University of Washington

External Links

Personal website of Lisa G. Shaffer

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