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Neben, Cynthia L
42  results:
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1

Whole-genome sequencing as an investigational device for re..:

Venner, Eric ; Muzny, Donna ; Smith, Joshua D....
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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2

Clinical Implementation of Combined Monogenic and Polygenic..:

Maamari, Dimitri J. ; Brockman, Deanna G. ; Aragam, Krishna...
JACC: Advances.  1 (2022)  3 - p. 100068 , 2022
Link: https://doi.org/10.1016/..
 
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3

CNPY4 inhibits the Hedgehog pathway by modulating membrane ..:

Lo, Megan ; Sharir, Amnon ; Paul, Michael D....
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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4

Association of Genetic Variation With Cirrhosis: A Multi-Tr..:

Emdin, Connor A. ; Haas, Mary ; Ajmera, Veeral...
Gastroenterology.  160 (2021)  5 - p. 1620-1633.e13 , 2021
Link: https://doi.org/10.1053/..
 
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5

Burden of hereditary cancer susceptibility in unselected pa..:

Cremin, Carol ; Lee, Michael Kuan‐Ching ; Hong, Quan...
Cancer Medicine.  9 (2020)  11 - p. 4004-4013 , 2020
Link: https://doi.org/10.1002/..
 
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6

Color Data v2: a user-friendly, open-access database with h..:

Berger, Mark J ; Williams, Hannah E ; Barrett, Ryan...
Database.  2020 (2020)  - p. , 2020
Link: https://doi.org/10.1093/..
 
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7

Polygenic background modifies penetrance of monogenic varia..:

Fahed, Akl C. ; Wang, Minxian ; Homburger, Julian R....
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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8

Patient acceptance of genetic testing for familial hypercho..:

Gidding, Samuel S. ; Sheldon, Amanda ; Neben, Cynthia L....
Journal of Clinical Lipidology.  14 (2020)  2 - p. 218-223.e2 , 2020
Link: https://doi.org/10.1016/..
 
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9

Feedback regulation of RTK signaling in development:

Neben, Cynthia L. ; Lo, Megan ; Jura, Natalia.
Developmental Biology.  447 (2019)  1 - p. 71-89 , 2019
Link: https://doi.org/10.1016/..
 
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10

Sonic Hedgehog Signaling Is Required for Cyp26 Expression d..:

El Shahawy, Maha ; Reibring, Claes-Göran ; Hallberg, Kristina...
International Journal of Molecular Sciences.  20 (2019)  9 - p. 2275 , 2019
Link: https://doi.org/10.3390/..
 
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11

A scalable, aggregated genotypic–phenotypic database for hu..:

Barrett, Ryan ; Neben, Cynthia L ; Zimmer, Anjali D...
Database.  2019 (2019)  - p. , 2019
Link: https://doi.org/10.1093/..
 
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12

Low coverage whole genome sequencing enables accurate asses..:

Homburger, Julian R. ; Neben, Cynthia L. ; Mishne, Gilad...
Genome Medicine.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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13

Multi-Gene Panel Testing of 23,179 Individuals for Heredita..:

Neben, Cynthia L. ; Zimmer, Anjali D. ; Stedden, Will...
The Journal of Molecular Diagnostics.  21 (2019)  4 - p. 646-657 , 2019
Link: https://doi.org/10.1016/..
 
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14

tp53-dependent and independent signaling underlies the path..:

Watt, Kristin E N ; Neben, Cynthia L ; Hall, Shawn..
Human Molecular Genetics.  27 (2018)  15 - p. 2628-2643 , 2018
Link: https://doi.org/10.1093/..
 
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15

Rare TP53 variant associated with Li-Fraumeni syndrome exhi..:

AlHarbi, Musa ; Mubarak, Nahla ; AlMubarak, Latifa...
npj Genomic Medicine.  3 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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