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Deshwar, Ashish R
26  results:
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1

Trio RNA sequencing in a cohort of medically complex childr..:

Deshwar, Ashish R. ; Yuki, Kyoko E. ; Hou, Huayun...
The American Journal of Human Genetics.  110 (2023)  5 - p. 895-900 , 2023
Link: https://doi.org/10.1016/..
 
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2

Rare de novo gain-of-function missense variants in DOT1L ar..:

Nil, Zelha ; Deshwar, Ashish R. ; Huang, Yan...
The American Journal of Human Genetics.  110 (2023)  11 - p. 1919-1937 , 2023
Link: https://doi.org/10.1016/..
 
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3

SMPD4 regulates mitotic nuclear envelope dynamics and its l..:

Smits, Daphne J ; Schot, Rachel ; Krusy, Nathalie...
Brain.  146 (2023)  8 - p. 3528-3541 , 2023
Link: https://doi.org/10.1093/..
 
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4

Monoallelic loss-of-function BMP2 variants result in BMP2-r..:

Priestley, Jessica R.C. ; Deshwar, Ashish R. ; Murthy, Harsha...
Genetics in Medicine.  25 (2023)  8 - p. 100863 , 2023
Link: https://doi.org/10.1016/..
 
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5

Loss of Mtm1 causes cholestatic liver disease in a model of..:

Karolczak, Sophie ; Deshwar, Ashish R. ; Aristegui, Evangelina...
Journal of Clinical Investigation.  133 (2023)  18 - p. , 2023
Link: https://doi.org/10.1172/..
 
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6

Variants in CLDN5 cause a syndrome characterized by seizure..:

Deshwar, Ashish R ; Cytrynbaum, Cheryl ; Murthy, Harsha...
Brain.  146 (2022)  6 - p. 2285-2297 , 2022
Link: https://doi.org/10.1093/..
 
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7

Biallelic loss-of-function variants in RABGAP1 cause a nove..:

Oh, Rachel Youjin ; Deshwar, Ashish R. ; Marwaha, Ashish...
Genetics in Medicine.  24 (2022)  11 - p. 2399-2407 , 2022
Link: https://doi.org/10.1016/..
 
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8

A rare unbalanced translocation (trisomy 5q33.3‐qter, monos..:

Joynt, Alyssa C. M. ; Deshwar, Ashish R. ; Zon, Jessica...
Molecular Genetics & Genomic Medicine.  9 (2021)  11 - p. , 2021
Link: https://doi.org/10.1002/..
 
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9

A homozygous pathogenic variant inSHROOM3associated with an..:

Deshwar, Ashish R. ; Martin, Nicole ; Shannon, Patrick.
Clinical Genetics.  98 (2020)  3 - p. 299-302 , 2020
Link: https://doi.org/10.1111/..
 
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10

The selector genes midline and H15 control ventral leg patt..:

Svendsen, Pia C. ; Phillips, Lindsay A. ; Deshwar, Ashish R....
Developmental Biology.  455 (2019)  1 - p. 19-31 , 2019
Link: https://doi.org/10.1016/..
 
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11

Disruption of the PTHLH regulatory landscape results in fea..:

Deshwar, Ashish R. ; Spielmann, Malte ; Vi, Lisa...
American Journal of Medical Genetics Part A.  179 (2019)  4 - p. 663-667 , 2019
Link: https://doi.org/10.1002/..
 
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12

Severe rhizomelic shortening in a child with a complex dupl..:

Deshwar, Ashish R. ; Dupuis, Lucie ; Bergmann, Carsten..
American Journal of Medical Genetics Part A.  176 (2017)  2 - p. 450-454 , 2017
Link: https://doi.org/10.1002/..
 
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13

The Apelin receptor enhances Nodal/TGFβ signaling to ensure..:

Deshwar, Ashish R ; Chng, Serene C ; Ho, Lena..
eLife.  5 (2016)  - p. , 2016
Link: https://doi.org/10.7554/..
 
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14

Mespaa can potently induce cardiac fates in zebrafish:

Deshwar, Ashish R. ; Onderisin, John C. ; Aleksandrova, Anastasiia...
Developmental Biology.  418 (2016)  1 - p. 17-27 , 2016
Link: https://doi.org/10.1016/..
 
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15

ENU-induced Mutation in the DNA-binding Domain of KLF3 Reve..:

Kelsey, Lois ; Flenniken, Ann M. ; Qu, Dawei...
PLoS Genetics.  9 (2013)  7 - p. e1003612 , 2013
Link: https://doi.org/10.1371/..
 
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