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Macke, Erica L
58  results:
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1

Identification of skewed X chromosome inactivation using ex..:

Fadra, Numrah ; Schultz-Rogers, Laura E ; Chanana, Pritha...
BMC Genomics.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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An adult with acylglycerol kinase deficiency:

Wierenga, Klaas ; Boniface, Michael ; Seim, Lynsey...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108311 , 2024
Link: https://doi.org/10.1016/..
 
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3

Semiautomated approach focused on new genomic information r..:

Ferrer, Alejandro ; Duffy, Patrick ; Olson, Rory J....
Human Genetics.  143 (2024)  5 - p. 649-666 , 2024
Link: https://doi.org/10.1007/..
 
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4

A LINE-1 mediated deletion resulting in germline retinoblas..:

Macke, Erica L ; Miller, Anthony R ; Stonerock, Eileen...
Neuro-Oncology Advances.  6 (2023)  1 - p. , 2023
Link: https://doi.org/10.1093/..
 
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5

Bi-allelic variants in INTS11 are associated with a complex..:

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello...
The American Journal of Human Genetics.  110 (2023)  5 - p. 774-789 , 2023
Link: https://doi.org/10.1016/..
 
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6

P070: Discerning the meaning of cancer predisposition varia..:

Macke, Erica ; Schieffer, Kathleen ; Mathew, Mariam...
Genetics in Medicine Open.  1 (2023)  1 - p. 100089 , 2023
Link: https://doi.org/10.1016/..
 
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7

Impact of integrated translational research on clinical exo..:

Klee, Eric W. ; Cousin, Margot A. ; Pinto e Vairo, Filippo...
Genetics in Medicine.  25 (2023)  2 - p. 100359 , 2023
Link: https://doi.org/10.1016/..
 
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8

O50: A RENEW'd strategy to ending the diagnostic odyssey: S..:

Olson, Rory ; Ferrer, Alejandro ; Duffy, Patrick...
Genetics in Medicine Open.  1 (2023)  1 - p. 100703 , 2023
Link: https://doi.org/10.1016/..
 
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9

P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guide..:

Goar, Wesley ; Kuzma, Kori ; Stahl, Kathryn...
Genetics in Medicine Open.  1 (2023)  1 - p. 100719 , 2023
Link: https://doi.org/10.1016/..
 
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10

eP158: The utility of transcriptomics to increase diagnosti..:

Klee, Eric ; Macke, Erica ; Cousin, Margot...
Genetics in Medicine.  24 (2022)  3 - p. S96-S97 , 2022
Link: https://doi.org/10.1016/..
 
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11

eP183: Functional assessment of a novel POU4F3 missense var..:

Macke, Erica ; Schwab, Tanya ; Schimmenti, Lisa.
Genetics in Medicine.  24 (2022)  3 - p. S113-S114 , 2022
Link: https://doi.org/10.1016/..
 
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12

Functional validation of a novel AAAS variant in an atypica..:

Macke, Erica L. ; Morales‐Rosado, Joel A. ; Macklin‐Mantia, Sarah K....
Molecular Genetics & Genomic Medicine.  10 (2022)  7 - p. , 2022
Link: https://doi.org/10.1002/..
 
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13

Expansion of the Genotypic and Phenotypic Spectrum of WASF1..:

Srivastava, Siddharth ; Macke, Erica L. ; Swanson, Lindsay C....
Brain Sciences.  11 (2021)  7 - p. 931 , 2021
Link: https://doi.org/10.3390/..
 
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14

Retinopathy of prematurity shows alterations in Vegfa164 is..:

Mezu-Ndubuisi, Olachi J. ; Song, Yong-Seok ; Macke, Erica...
Pediatric Research.  91 (2021)  7 - p. 1677-1685 , 2021
Link: https://doi.org/10.1038/..
 
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15

Impact of integrated translational research on clinical exo..:

Klee, Eric W. ; Cousin, Margot A. ; Pinto e Vairo, Filippo...
Genetics in Medicine.  23 (2021)  3 - p. 498-507 , 2021
Link: https://doi.org/10.1038/..
 
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