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Genetics

D-Index
56
Citations
13391
World Ranking
3483
National Ranking
1511

Overview

Blake C. Ballif is affiliated with Paw Print Genetics in the United States, contributing to the fields of Biochemistry, Genetics, and Molecular Biology, with a notable focus on Molecular Biology and Genetics among other subfields. Their research extends to specialized topics such as Fibroblast Growth Factor Research, Wnt/β-catenin signaling in development and cancer, and Genomic variations and chromosomal abnormalities.

Their scholarly output includes several papers published primarily in the journal Human Genetics, with additional contributions to Research Square and UNC Libraries. Key publications 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)
  • 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)
  • Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat (2021, Research Square)
  • Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes (2020, UNC Libraries)

The scientist's frequent collaborators include Lisa G. Shaffer, Helen Flores-Smith, Griffin D. Shaffer, Kathryn M. Meurs, and Bradley Hopp, reflecting a collaborative research environment and interdisciplinary engagement.

Blake C. Ballif's work spans several subfields such as Pediatrics, Perinatology and Child Health, Cell Biology, and Nutrition and Dietetics, in addition to core genetic and molecular biology themes. The topics covered in their research address intricate areas including epigenetics and DNA methylation, prenatal screening and diagnostics, and genetic syndromes and imprinting.

Publication venues for their research are primarily focused on Human Genetics, a leading journal in the field, along with contributions to Research Square and UNC Libraries. This highlights a consistent engagement with reputable platforms for disseminating research findings in genetics and molecular biology.

Best Publications

  • Chromosomal microarray versus karyotyping for prenatal diagnosis

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

  • A copy number variation morbidity map of developmental delay

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

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

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

  • Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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

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

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

  • 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

  • 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

  • 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

  • Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.

    Lisa G. Shaffer;Jill A. Rosenfeld;Mindy P. Dabell;Justine Coppinger

  • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases

    Lisa G. Shaffer;Catherine D. Kashork;Reza Saleki;Emily Rorem

  • Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

    Bassem A. Bejjani;Reza Saleki;Blake C. Ballif;Emily A. Rorem

  • Experience With Microarray-Based Comparative Genomic Hybridization for Prenatal Diagnosis in Over 5000 Pregnancies

    Lisa G. Shaffer;Mindy P. Dabell;Allan J. Fisher;Justine Coppinger

  • The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future†

    Lisa G. Shaffer;Bassem A. Bejjani;Beth Torchia;Susan Kirkpatrick

  • Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

    Blake C Ballif;Sara A Hornor;Elizabeth Jenkins;Suneeta Madan-Khetarpal

  • Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

    Ruxandra Bachmann-Gagescu;Heather C. Mefford;Charles Cowan;Gwen M. Glew

  • Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality.

    HA Heilstedt;BC Ballif;LA Howard;CD Kashork

  • Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

    Wei Yu;Blake C. Ballif;Catherine D. Kashork;Heidi A. Heilstedt

  • Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

    Jill A. Rosenfeld;Justine Coppinger;Bassem A. Bejjani;Santhosh Girirajan

  • The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

    Lisa G Shaffer;Aaron Theisen;Bassem A Bejjani;Bassem A Bejjani;Blake C Ballif

  • Corrigendum: A copy number variation morbidity map of developmental delay

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

Frequent Co-Authors

Lisa G. Shaffer
Lisa G. Shaffer Paw Print Genetics
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Bassem A. Bejjani
Bassem A. Bejjani Metis Genetics
Evan E. Eichler
Evan E. Eichler University of Washington
Santhosh Girirajan
Santhosh Girirajan Pennsylvania State University
Elaine H. Zackai
Elaine H. Zackai Children's Hospital of Philadelphia
Urvashi Surti
Urvashi Surti University of Pittsburgh
Tamim H. Shaikh
Tamim H. Shaikh University of Colorado Denver
Chad A. Shaw
Chad A. Shaw Baylor College of Medicine
Arthur L. Beaudet
Arthur L. Beaudet Baylor College of Medicine

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