Biochemistry, Genetics and Molecular Biology · Life Sciences
55h-index20.6kcitations175works5.52yr avg
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Research Topics
Genomics and Rare Diseases(44), BRCA gene mutations in cancer(24), Metabolism and Genetic Disorders(21), Genomic variations and chromosomal abnormalities(20), Prenatal Screening and Diagnostics(17)
Publications172 total
Pathology·2024Open Access
JAMA Network Open·2023· 14 citedOpen Access
Molecular Genetics and Metabolism·2023· 6 citedOpen Access
Frontiers in Genetics·2022· 21 citedOpen Access
International Journal of Neonatal Screening·2022· 46 citedOpen Access
American Journal of Medical Genetics Part C Seminars in Medical Genetics·2022· 25 citedOpen Access
Genetics in Medicine·2021· 245 citedOpen Access
Genetics in Medicine·2021· 542 citedOpen Access
New Zealand Journal of Zoology·2021· 3 cited
Genetics in Medicine·2021· 162 citedOpen Access
UNC Libraries·2020Open Access
Journal of Community Genetics·2020· 61 citedOpen Access
Genetics in Medicine·2019· 155 citedOpen Access
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Frequent Co-authors
Christa Lese Martin(6), Wendy K. Chung(6), Michele A. Lloyd-Puryear(5), Piero Rinaldo(5), David T. Miller(4), Jonathan S. Berg(4), Wayne W. Grody(4), Heidi L. Rehm(4), Gail E. Herman(4), C. Sue Richards(4), Priya S. Kishnani(4), Robert D. Steiner(4), Deeksha Bali(4), R. Rodney Howell(4), Steven M. Harrison(4), David H. Ledbetter(3), Robert L. Nussbaum(3), Marc S. Williams(3), Kathy Adelman(3), Sherri J. Bale(3)