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Sweetser, David A.
200  results:
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1

De novo variants in FRYL are associated with developmental ..:

Pan, Xueyang ; Tao, Alice M. ; Lu, Shenzhao...
The American Journal of Human Genetics.  111 (2024)  4 - p. 742-760 , 2024
Link: https://doi.org/10.1016/..
 
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2

High-dimensional immunophenotyping reveals immune cell aber..:

Mueller, Alisa A. ; Sasaki, Takanori ; Keegan, Joshua W....
Journal of Clinical Investigation.  133 (2023)  24 - p. , 2023
Link: https://doi.org/10.1172/..
 
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3

A pooled electronic consultation program to improve access ..:

Folkerts, Emma K. ; Pelletier, Renée C. ; Chung, Daniel C....
Genetics in Medicine Open.  1 (2023)  1 - p. 100819 , 2023
Link: https://doi.org/10.1016/..
 
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4

A de novo missense variant in EZH1 associated with developm..:

Jangam, Sharayu V ; Briere, Lauren C ; Jay, Kristy L...
GENETICS.  224 (2023)  4 - p. , 2023
Link: https://doi.org/10.1093/..
 
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5

A seed sequence variant in miR-145-5p causes multisystem sm..:

Lino Cardenas, Christian Lacks ; Briere, Lauren C. ; Sweetser, David A...
Journal of Clinical Investigation.  133 (2023)  5 - p. , 2023
Link: https://doi.org/10.1172/..
 
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6

Tle4 controls both developmental acquisition and early post..:

Galazo, Maria J. ; Sweetser, David A. ; Macklis, Jeffrey D.
Cell Reports.  42 (2023)  8 - p. 112957 , 2023
Link: https://doi.org/10.1016/..
 
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7

Allelic strengths of encephalopathy-associated UBA5 variant..:

Pan, Xueyang ; Alvarez, Albert N ; Ma, Mengqi...
eLife.  12 (2023)  - p. , 2023
Link: https://doi.org/10.7554/..
 
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8

Allelic strengths of encephalopathy-associated UBA5 variant..:

Pan, Xueyang ; Alvarez, Albert N ; Ma, Mengqi...
eLife.  12 (2023)  - p. , 2023
Link: https://doi.org/10.7554/..
 
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9

De novo MCM6 variants in neurodevelopmental disorders: a re..:

Smits, Daphne J. ; Schot, Rachel ; Popescu, Cristiana A....
Human Genetics.  142 (2023)  7 - p. 949-964 , 2023
Link: https://doi.org/10.1007/..
 
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10

The recurrent de novo c.2011C>T missense variant in MTSS2 c..:

Huang, Yan ; Lemire, Gabrielle ; Briere, Lauren C....
The American Journal of Human Genetics.  109 (2022)  10 - p. 1923-1931 , 2022
Link: https://doi.org/10.1016/..
 
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11

Clinical, neuroimaging, and molecular spectrum ofTECPR2‐ass..:

Neuser, Sonja ; Brechmann, Barbara ; Heimer, Gali...
Human Mutation.  42 (2021)  6 - p. 762-776 , 2021
Link: https://doi.org/10.1002/..
 
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12

Heterozygous variants in PRPF8 are associated with neurodev..:

O'Grady, Lauren ; Sweetser, David ; Gold, Nina...
Molecular Genetics and Metabolism.  132 (2021)  - p. S109-S110 , 2021
Link: https://doi.org/10.1016/..
 
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13

TLE4 Is a Critical Mediator of Osteoblast and Runx2-Depende..:

Shin, Thomas H. ; Theodorou, Evangelos ; Holland, Carl...
Frontiers in Cell and Developmental Biology.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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14

Missense variants in CTNNB1 can be associated with vitreore..:

Rossetti, Linda Z. ; Bekheirnia, Mir Reza ; Lewis, Andrea M....
Molecular Genetics & Genomic Medicine.  9 (2020)  1 - p. , 2020
Link: https://doi.org/10.1002/..
 
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15

A retrospective study of adult patients with noncirrhotic h..:

Stergachis, Andrew B. ; Mogensen, Kris M. ; Khoury, Charbel C....
Journal of Inherited Metabolic Disease.  43 (2020)  6 - p. 1165-1172 , 2020
Link: https://doi.org/10.1002/..
 
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