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Jhangiani, Shalini N
257
results:
Search for persons
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Online (257)
Mediatypes
Articles (Online) (130)
OpenAccess-fulltext (127)
Languages
english (207)
spanish (1)
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1
Inverted triplications formed by iterative template switche..:
Grochowski, Christopher M.
;
Bengtsson, Jesse D.
;
Du, Haowei
...
Cell Genomics. 4 (2024) 7 - p. 100590 , 2024
Link:
https://doi.org/10.1016/..
?
2
The impact of the Turkish population variome on the genomic..:
Coban-Akdemir, Zeynep
;
Song, Xiaofei
;
Ceballos, Francisco C.
...
Genetics in Medicine Open. 2 (2024) - p. 101830 , 2024
Link:
https://doi.org/10.1016/..
?
3
NODAL variants are associated with a continuum of lateralit..:
Dardas, Zain
;
Fatih, Jawid M.
;
Jolly, Angad
...
Genome Medicine. 16 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
4
Dominant negative variants in KIF5B cause osteogenesis impe..:
Marom, Ronit
;
Zhang, Bo
;
Washington, Megan E.
...
PLOS Genetics. 19 (2023) 11 - p. e1011005 , 2023
Link:
https://doi.org/10.1371/..
?
5
A biallelic frameshift indel in PPP1R35 as a cause of prima..:
Dawood, Moez
;
Akay, Gulsen
;
Mitani, Tadahiro
...
American Journal of Medical Genetics Part A. 191 (2023) 3 - p. 794-804 , 2023
Link:
https://doi.org/10.1002/..
?
6
HMZDupFinder: a robust computational approach for detecting..:
Du, Haowei
;
Dardas, Zain
;
Jolly, Angad
...
Nucleic Acids Research. 52 (2023) 4 - p. e18-e18 , 2023
Link:
https://doi.org/10.1093/..
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7
Monoallelic variation in DHX9, the gene encoding the DExH-b..:
Calame, Daniel G.
;
Guo, Tianyu
;
Wang, Chen
...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1394-1413 , 2023
Link:
https://doi.org/10.1016/..
?
8
Novel LSS variants in alopecia and intellectual disability ..:
Elbendary, Hasnaa M.
;
Marafi, Dana
;
Saad, Ahmed K.
...
Clinical Genetics. 104 (2023) 3 - p. 344-349 , 2023
Link:
https://doi.org/10.1111/..
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9
Biallelic missense variants in COG3 cause a congenital diso..:
Duan, Ruizhi
;
Marafi, Dana
;
Xia, Zhi‐Jie
...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1195-1205 , 2023
Link:
https://doi.org/10.1002/..
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10
Rare variant enrichment analysis supports GREB1L as a contr..:
Jolly, Angad
;
Du, Haowei
;
Borel, Christelle
...
Human Genetics and Genomics Advances. 4 (2023) 3 - p. 100188 , 2023
Link:
https://doi.org/10.1016/..
?
11
Centers for Mendelian Genomics: A decade of facilitating ge..:
Baxter, Samantha M.
;
Posey, Jennifer E.
;
Lake, Nicole J.
...
Genetics in Medicine. 24 (2022) 4 - p. 784-797 , 2022
Link:
https://doi.org/10.1016/..
?
12
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B ..:
Taşdelen, Elifcan
;
Calame, Daniel G.
;
Akay, Gulsen
...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2153-2161 , 2022
Link:
https://doi.org/10.1002/..
?
13
Novel pathogenic variants and quantitative phenotypic analy..:
Zhang, Chaofan
;
Jolly, Angad
;
Shayota, Brian J.
...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100074 , 2022
Link:
https://doi.org/10.1016/..
?
14
Genetic errors of immunity distinguish pediatric nonmaligna..:
Forbes, Lisa R.
;
Eckstein, Olive S.
;
Gulati, Nitya
...
Journal of Allergy and Clinical Immunology. 149 (2022) 2 - p. 758-766 , 2022
Link:
https://doi.org/10.1016/..
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15
Variant‐level matching for diagnosis and discovery: Challen..:
Rodrigues, Eliete da S.
;
Griffith, Sean
;
Martin, Renan
...
Human Mutation. , 2022
Link:
https://doi.org/10.1002/..
1-15