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Jhangiani, Shalini N
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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