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Szot, Justin O.
20  results:
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1

A metabolic signature for NADSYN1-dependent congenital NAD ..:

Szot, Justin O. ; Cuny, Hartmut ; Martin, Ella M.M.A....
Journal of Clinical Investigation.  134 (2024)  4 - p. , 2024
Link: https://doi.org/10.1172/..
 
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2

New cases that expand the genotypic and phenotypic spectrum..:

Szot, Justin O. ; Slavotinek, Anne ; Chong, Karen...
Human Mutation.  42 (2021)  7 - p. 862-876 , 2021
Link: https://doi.org/10.1002/..
 
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3

Functional genomics and gene-environment interaction highli..:

Dunwoodie, Sally L ; Sparrow, Duncan B ; Giannoulatou, Eleni...
Human Molecular Genetics.  29 (2019)  4 - p. 566-579 , 2019
Link: https://doi.org/10.1093/..
 
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4

Identification of clinically actionable variants from genom..:

Alankarage, Dimuthu ; Ip, Eddie ; Szot, Justin O....
Genetics in Medicine.  21 (2019)  5 - p. 1111-1120 , 2019
Link: https://doi.org/10.1038/..
 
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5

Functional characterization of a novel PBX1 de novo missens..:

Dunwoodie, Sally L ; Chapman, Gavin ; Giannoulatou, Eleni...
Human Molecular Genetics.  29 (2019)  7 - p. 1068-1082 , 2019
Link: https://doi.org/10.1093/..
 
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6

De novo, deleterious sequence variants that alter the trans..:

Slavotinek, Anne ; Risolino, Maurizio ; Losa, Marta...
Human Molecular Genetics.  26 (2017)  24 - p. 4849-4860 , 2017
Link: https://doi.org/10.1093/..
 
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7

New Cases that Expand the Genotypic and Phenotypic Spectrum..:

Szot, Justin O ; Slavotinek, Anne ; Chong, Karen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238843/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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8

Functional characterization of a novel PBX1 de novo missens..:

Alankarage, Dimuthu ; Szot, Justin O ; Pachter, Nick...
qt6361t6d7.  , 2020
Link: https://escholarship.org..
 
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9

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defect..:

Szot, Justin O ; Campagnolo, Carla ; Cao, Ye...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042491/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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10

De novo, deleterious sequence variants that alter the trans..:

Slavotinek, Anne ; Risolino, Maurizio ; Losa, Marta...
qt5dk7k8nv.  , 2017
Link: https://escholarship.org..
 
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11

De novo, deleterious sequence variants that alter the trans..:

Slavotinek, Anne ; Risolino, Maurizio ; Losa, Marta...
Slavotinek , A , Risolino , M , Losa , M , Cho , M T , Monaghan , K G , Schneidman-Duhovny , D , Parisotto , S , Herkert , J C , Stegmann , A P A , Miller , K , Shur , N , Chui , J , Muller , E , DeBrosse , S , Szot , J O , Chapman , G , Pachter , N S , Winlaw , D S , Mendelsohn , B A , Dalton , J , Sarafoglou , K , Karachunski , P I , Lewis , J M , Pedro , H , Dunwoodie , S L , Selleri , L & Shieh , J 2017 , ' De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects ' , Human Molecular Genetics , vol. 26 , no. 24 , pp. 4849-4860 . https://doi.org/10.1093/hmg/ddx363.  , 2017
Link: https://cris.maastrichtu..
 
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12

De novo, deleterious sequence variants that alter the trans..:

Slavotinek, Anne ; Risolino, Maurizio ; Losa, Marta...
https://research.rug.nl/en/publications/ddf8bb4f-e644-4298-bba2-f896c3b2bd19.  , 2017
Link: https://hdl.handle.net/1..
 
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13

The promises and challenges of exome sequencing in familial..:

Blue, Gillian M. ; Humphreys, David ; Szot, Justin...
International Journal of Cardiology.  230 (2017)  - p. 155-163 , 2017
Link: https://doi.org/10.1016/..
 
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14

Recommendations for testing new chelating agents for remova..:

Smith, H. ; Stather, J. ; Stradling, G. N....
Radiation and Environmental Biophysics.  21 (1982)  1 - p. 45-50 , 1982
Link: https://doi.org/10.1007/..
 
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15

Topological crystalline insulator states in Pb1−xSnxSe:

Dziawa, P. ; Kowalski, B. J. ; Dybko, K....
Nature Materials.  11 (2012)  12 - p. 1023-1027 , 2012
Link: https://doi.org/10.1038/..
 
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