E-LIB Suche - Ergebnisse für: Donovan, Frank X.

1

AP2A2 mutation and defective endocytosis in a Malian family..:

Diarra, Salimata ; Ghosh, Saikat ; Cissé, Lassana...
Neurobiology of Disease. 198 (2024) - p. 106537 , 2024

Link: https://doi.org/10.1016/..

2

FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice var..:

Ramanagoudr-Bhojappa, Ramanagouda ; Tryon, Rebecca ; Lach, Francis P....
Blood Advances. 8 (2024) 4 - p. 899-908 , 2024

Link: https://doi.org/10.1182/..

3

Haplotype-based analysis resolves missing heritability in o..:

Loftus, Stacie K. ; Gillis, Meredith F. ; Lundh, Linnea...
The American Journal of Human Genetics. 110 (2023) 7 - p. 1123-1137 , 2023

Link: https://doi.org/10.1016/..

4

Genomic signature of Fanconi anaemia DNA repair pathway def..:

Webster, Andrew L. H. ; Sanders, Mathijs A. ; Patel, Krupa...
Nature. 612 (2022) 7940 - p. 495-502 , 2022

Link: https://doi.org/10.1038/..

5

The causes of Fanconi anemia in South Asia and the Middle E..:

Thompson, Ashley S. ; Saba, Nusrat ; McReynolds, Lisa J....
Molecular Genetics & Genomic Medicine. 9 (2021) 7 - p. , 2021

Link: https://doi.org/10.1002/..

6

A founder variant in the South Asian population leads to a ..:

Donovan, Frank X. ; Solanki, Avani ; Mori, Minako...
Human Mutation. 41 (2019) 1 - p. 122-128 , 2019

Link: https://doi.org/10.1002/..

7

Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Rep..:

Mendonca, Leonardo O. ; Malle, Louise ; Donovan, Frank X....
Journal of Clinical Immunology. 37 (2017) 5 - p. 445-451 , 2017

Link: https://doi.org/10.1007/..

8

iPSCs and fibroblast subclones from the same fibroblast pop..:

Kwon, Erika M. ; Connelly, John P. ; Hansen, Nancy F....
Proceedings of the National Academy of Sciences of the United States of America. 114 (2017) 8 - p. 1964-1969 , 2017

Link: https://www.jstor.org/st..

9

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: To..:

Murdock, David R. ; Donovan, Frank X. ; Chandrasekharappa, Settara C....
The Journal of Clinical Endocrinology & Metabolism. 102 (2017) 5 - p. 1529-1537 , 2017

Link: https://doi.org/10.1210/..

10

A comprehensive approach to identification of pathogenic FA..:

Kimble, Danielle C. ; Lach, Francis P. ; Gregg, Siobhan Q....
Human Mutation. 39 (2017) 2 - p. 237-254 , 2017

Link: https://doi.org/10.1002/..

11

Somatic mosaicism of an intragenic FANCB duplication in bot..:

Asur, Rajalakshmi S. ; Kimble, Danielle C. ; Lach, Francis P....
Molecular Genetics & Genomic Medicine. 6 (2017) 1 - p. 77-91 , 2017

Link: https://doi.org/10.1002/..

12

iPSCs and fibroblast subclones from the same fibroblast pop..:

Kwon, Erika M. ; Connelly, John P. ; Hansen, Nancy F....
Proceedings of the National Academy of Sciences. 114 (2017) 8 - p. 1964-1969 , 2017

Link: https://doi.org/10.1073/..

13

Assessing the spectrum of germline variation in Fanconi ane..:

Chandrasekharappa, Settara C. ; Chinn, Steven B. ; Donovan, Frank X....
Cancer. 123 (2017) 20 - p. 3943-3954 , 2017

Link: https://doi.org/10.1002/..

14

Paternal or Maternal Uniparental Disomy of Chromosome 16 Re..:

Donovan, Frank X. ; Kimble, Danielle C. ; Kim, Yonghwan...
Human Mutation. 37 (2016) 5 - p. 465-468 , 2016

Link: https://doi.org/10.1002/..

15

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for ..:

Rickman, Kimberly A. ; Lach, Francis P. ; Abhyankar, Avinash...
Cell Reports. 12 (2015) 1 - p. 35-41 , 2015

Link: https://doi.org/10.1016/..