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Conlin, Laura
179  results:
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1

P621: Benchmarking phenotype-driven variant prioritization ..:

Aruta, Matt ; Knoblauch, Jard ; Jadhav, Tanaya...
Genetics in Medicine Open.  2 (2024)  - p. 101527 , 2024
Link: https://doi.org/10.1016/..
 
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Kagami Ogata syndrome: a small deletion refines critical re..:

Kilich, Gonench ; Hassey, Kelly ; Behrens, Edward M....
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

A multi-center analysis of individuals with a 47,XXY/46,XX ..:

Guess, Tiffany ; Wheeler, Ferrin C. ; Yenemandra, Ashwini...
Genetics in Medicine.  , 2024
Link: https://doi.org/10.1016/..
 
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Genomic Contributors to Esophageal Atresia and Tracheoesoph..:

Wild, K. Taylor ; Conlin, Laura ; Blair, Justin...
The Journal of Pediatrics.  271 (2024)  - p. 114060 , 2024
Link: https://doi.org/10.1016/..
 
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P830: Detection and quantification of multiple deletions in..:

Jadhav, Tanaya ; Zucco, Avery ; Aruta, Matt...
Genetics in Medicine Open.  2 (2024)  - p. 101741 , 2024
Link: https://doi.org/10.1016/..
 
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P532: Development, implementation, and preliminary results ..:

Bedoukian, Emma ; Reichert, Sara ; DeChene, Elizabeth...
Genetics in Medicine Open.  2 (2024)  - p. 101431 , 2024
Link: https://doi.org/10.1016/..
 
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O07: Haploinsufficiency of EIF3A and EIF3B cause a clinical..:

Somerville, Cherith ; Erkut, Ersa ; Schwartz, Marci...
Genetics in Medicine Open.  2 (2024)  - p. 101469 , 2024
Link: https://doi.org/10.1016/..
 
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P623: Cytogenetic findings in a clinical next generation se..:

Hijazi, Hadia ; Luke, Tamara ; Pechter, Kieran...
Genetics in Medicine Open.  2 (2024)  - p. 101529 , 2024
Link: https://doi.org/10.1016/..
 
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P485: Evaluating novel dosage sensitivity predictors for in..:

Herriges, John ; Runke, Cassandra ; Lewis, Zoe...
Genetics in Medicine Open.  1 (2023)  1 - p. 100532 , 2023
Link: https://doi.org/10.1016/..
 
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O31: Risk allele evidence curation, classification, and rep..:

Lebo, Matthew ; Steeves, Marcie ; Benson, Katherine...
Genetics in Medicine Open.  1 (2023)  1 - p. 100457 , 2023
Link: https://doi.org/10.1016/..
 
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eP313: Too few or too many? Variant reporting burden and di..:

Aref-Eshghi, Erfan ; Cao, Kajia ; Fu, Weixuan...
Genetics in Medicine.  24 (2022)  3 - p. S197-S198 , 2022
Link: https://doi.org/10.1016/..
 
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eP288: Genomic characterization of a TP53 tandem duplicatio..:

Xu, Feng ; Aref-Eshghi, Erfan ; Wu, Jinhua...
Genetics in Medicine.  24 (2022)  3 - p. S182 , 2022
Link: https://doi.org/10.1016/..
 
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28. Identification of TP53 germline variants in pediatric p..:

Luo, Minjie ; Macfarland, Suzanne ; Zelley, Kristin...
Cancer Genetics.  260-261 (2022)  - p. 10 , 2022
Link: https://doi.org/10.1016/..
 
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3. Standardizing recurrent copy number variant classificati..:

Andersen, Erica F. ; Herriges, John ; Coe, Bradley...
Cancer Genetics.  252-253 (2021)  - p. S1-S2 , 2021
Link: https://doi.org/10.1016/..
 
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Standardizing the classification of recurrent copy number v..:

Herriges, John ; Andersen, Erica ; Coe, Bradley...
Molecular Genetics and Metabolism.  132 (2021)  - p. S284 , 2021
Link: https://doi.org/10.1016/..
 
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