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1

Patterns of mosaicism for sequence and copy-number variants..:

Truty, Rebecca ; Rojahn, Susan ; Ouyang, Karen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119133/. , 2023

Link: http://www.ncbi.nlm.nih...

2

Genetic Testing to Inform Epilepsy Treatment Management Fro..:

McKnight, Dianalee ; Morales, Ana ; Hatchell, Kathryn E...
https://jamanetwork.com/journals/jamaneurology/fullarticle/2797510. , 2023

Link: https://hdl.handle.net/2..

3

High-Throughput Splicing Assays Identify Known and Novel WT..:

Smith, Cathy ; Burugula, Bala Bharathi ; Dunn, Ian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10577367/. , 2023

Link: http://www.ncbi.nlm.nih...

4

Rates and Classification of Variants of Uncertain Significa..:

Chen, Elaine ; Facio, Flavia M ; Aradhya, Kerry W...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10600581/. , 2023

Link: http://www.ncbi.nlm.nih...

5

Genetic Testing to Inform Epilepsy Treatment Management Fro..:

McKnight, Dianalee ; Morales, Ana ; Hatchell, Kathryn E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623482/. , 2022

Link: http://www.ncbi.nlm.nih...

6

The KIDNEYCODE Program: Diagnostic Yield and Clinical Featu..:

Lieberman, Kenneth V ; Chang, Alexander R ; Block, Geoffrey A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9438426/. , 2022

Link: http://www.ncbi.nlm.nih...

7

Scalable detection of technically challenging variants thro..:

Rojahn, Susan ; Hambuch, Tina ; Adrian, Jessika...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747563/. , 2022

Link: http://www.ncbi.nlm.nih...

8

A cross-disorder dosage sensitivity map of the human genome:

Collins, Ryan L ; Glessner, Joseph T ; Porcu, Eleonora...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9742861/. , 2022

Link: http://www.ncbi.nlm.nih...

9

A cross-disorder dosage sensitivity map of the human genome:

Collins, Ryan ; Glessner, Joseph ; Porcu, Eleonora...
doi:10.5281/zenodo.6347672. , 2022

Link: https://zenodo.org/recor..

10

Genetic Testing to Inform Epilepsy Treatment Management Fro..:

McKnight, Dianalee ; Morales, Ana ; Hatchell, Kathryn E...
https://jdc.jefferson.edu/pedsfp/127. , 2022

Link: https://jdc.jefferson.ed..

11

Correction to: Physician-directed genetic screening to eval..:

Haverfield, Eden V ; Esplin, Edward D ; Aguilar, Sienna J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567716/. , 2021

Link: http://www.ncbi.nlm.nih...

12

X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel..:

Brlek, Petar ; Antičević, Darko ; Molnar, Vilim...
Sveučilište u Rijeci. Medicinski fakultet.. , 2021

Link: https://www.unirepositor..

13

Molecular Diagnoses of X‐Linked and Other Genetic Hypophosp..:

Rush, Eric T ; Johnson, Britt ; Aradhya, Swaroop...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298723/. , 2021

Link: http://www.ncbi.nlm.nih...

14

One in seven pathogenic variants can be challenging to dete..:

Lincoln, Stephen E ; Hambuch, Tina ; Zook, Justin M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460443/. , 2021

Link: http://www.ncbi.nlm.nih...

15

Elucidating clinical phenotypic variability associated with..:

Nykamp, Keith ; Truty, Rebecca ; Riethmaier, Darlene...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292755/. , 2021

Link: http://www.ncbi.nlm.nih...

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