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Revah-Politi, Anya
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1

P834: A genetic counselors watchlist: Framework for gene di..:

Lippa, Natalie ; Bier, Louise ; Mulhern, Maureen...
Genetics in Medicine Open.  2 (2024)  - p. 101745 , 2024
Link: https://doi.org/10.1016/..
 
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2

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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3

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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4

Diagnostic sequencing to support genetically stratified med..:

Lippa, Natalie ; Bier, Louise ; Revah-Politi, Anya...
Genetics in Medicine.  24 (2022)  4 - p. 862-869 , 2022
Link: https://doi.org/10.1016/..
 
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5

Clinical Real-Time Genome Sequencing to Solve the Complex a..:

Jain, Namrata G. ; Ahram, Dina F. ; Marasa, Maddalena...
Kidney International Reports.  7 (2022)  10 - p. 2312-2316 , 2022
Link: https://doi.org/10.1016/..
 
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6

eP435: Issues in interpreting results in research genomic t..:

Revah-Politi, Anya ; Kushary, Sulagna (Tina) ; Vena, Natalie...
Genetics in Medicine.  24 (2022)  3 - p. S272-S273 , 2022
Link: https://doi.org/10.1016/..
 
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7

Whole exome sequencing across clinical specialties within a..:

Lippa, Natalie ; Bier, Louise ; Revah-Politi, Anya...
Molecular Genetics and Metabolism.  132 (2021)  - p. S226-S227 , 2021
Link: https://doi.org/10.1016/..
 
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8

The Epilepsy Genetics Initiative: a final summary:

Kushary, Sulagna (Tina) ; Bier, Louise ; Lippa, Natalie...
Molecular Genetics and Metabolism.  132 (2021)  - p. S243 , 2021
Link: https://doi.org/10.1016/..
 
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9

Truncating variants in the SHANK1 gene are associated with ..:

May, Halie J. ; Jeong, Jaehoon ; Revah-Politi, Anya...
Genetics in Medicine.  23 (2021)  10 - p. 1912-1921 , 2021
Link: https://doi.org/10.1038/..
 
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10

LATE BREAKING NEWS E-POSTER PRESENTATION:

Rönkkö, Julius ; Molchanova, Svetlana ; Revah-Politi, Anya...
Neuromuscular Disorders.  30 (2020)  - p. S167-S168 , 2020
Link: https://doi.org/10.1016/..
 
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11

Evaluation of the cost and effectiveness of diverse recruit..:

Milo Rasouly, Hila ; Wynn, Julia ; Marasa, Maddalena...
Genetics in Medicine.  21 (2019)  10 - p. 2371-2380 , 2019
Link: https://doi.org/10.1038/..
 
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12

Correction: Evaluation of the cost and effectiveness of div..:

Rasouly, Hila Milo ; Wynn, Julia ; Marasa, Maddalena...
Genetics in Medicine.  21 (2019)  10 - p. 2407 , 2019
Link: https://doi.org/10.1038/..
 
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13

De novo mutations in the GTP/GDP-binding region of RALA, a ..:

Hiatt, Susan M. ; Neu, Matthew B. ; Ramaker, Ryne C....
PLOS Genetics.  14 (2018)  11 - p. e1007671 , 2018
Link: https://doi.org/10.1371/..
 
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14

Germline variants in tumor suppressor FBXW7 lead to impaire..:

Stephenson, Sarah E.M ; Costain, Gregory ; Blok, Laura E.R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069070/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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15

The clinical and molecular spectrum of QRICH1 associated ne..:

Kumble, Smitha ; Levy, Amanda ; Punetha, Jaya...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24308.  , 2022
Link: https://univ-rennes.hal...
 
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