Conta, Jessie H: search on Z-Library

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1

Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications

Jamal, Seema M., Yu, Joon-Ho, Chong, Jessica X., Dent, Karin M., Conta, Jessie H., Tabor, Holly K., Bamshad, Michael J.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 269 KB

english, 2013

2

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations

Wallace, Stephanie E., Conta, Jessie H., Winder, Thomas L., Willer, Tobias, Eskuri, Jamie M., Haas, Richard, Patterson, Kathleen, Campbell, Kevin P., Moore, Steven A., Gospe, Sidney M.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 2.10 MB

english, 2014

3

Laboratory Stewardship for Clinical Genetic Testing

Conta, Jessie H.

Journal:

Current Genetic Medicine Reports

Year:

2019

Language:

english

File:

PDF, 262 KB

english, 2019

4

Improving the Value of Costly Genetic Reference Laboratory Testing With Active Utilization Management

Dickerson, Jane A., Cole, Bonnie, Conta, Jessie H., Wellner, Monica, Wallace, Stephanie E., Jack, Rhona M., Rutledge, Joe, Astion, Michael L.

Journal:

Archives of Pathology & Laboratory Medicine

Year:

2014

Language:

english

File:

PDF, 290 KB

english, 2014

5

Essentials of Genomic and Personalized Medicine || Genomics of Congenital Heart Disease

Conta, Jessie H.

Year:

2010

Language:

english

File:

PDF, 302 KB

english, 2010

6

Genetic testing utilization and the role of the laboratory genetic counselor

Kotzer, Katrina E., Riley, Jacquelyn D., Conta, Jessie H., Anderson, Claire M., Schahl, Kimberly A., Goodenberger, McKinsey L.

Journal:

Clinica Chimica Acta

Year:

2014

Language:

english

File:

PDF, 167 KB

english, 2014

7

Are We Ready for Newborn Genome Screening?

Dickerson, Jane A., Conta, Jessie H.

Journal:

Clinical Chemistry

Year:

2017

Language:

english

File:

PDF, 79 KB

english, 2017

8

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

Greenway, Steven C, Pereira, Alexandre C, Lin, Jennifer C, DePalma, Steven R, Israel, Samuel J, Mesquita, Sonia M, Ergul, Emel, Conta, Jessie H, Korn, Joshua M, McCarroll, Steven A

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 437 KB

english, 2009

9

Preventing Genetic Testing Order Errors With a Laboratory Utilization Management Program

Mathias, Patrick C., Conta, Jessie H., Konnick, Eric Q., Sternen, Darci L., Stasi, Shannon M., Cole, Bonnie L., Astion, Michael L., Dickerson, Jane A.

Journal:

American Journal of Clinical Pathology

Year:

2016

Language:

english

File:

PDF, 428 KB

english, 2016

10

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Om

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.58 MB

english, 2015

11

Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families

Delgado, Fernanda, Tabor, Holly K., Chow, Penny M., Conta, Jessie H., Feldman, Kenneth W., Tsuchiya, Karen D., Beck, Anita E.

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 648 KB

english, 2015

12

Adding value to genetic testing through utilization management: Commercial laboratory's experience

Londre, Gina K., Zaleski, Christina A., Conta, Jessie H.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 309 KB

english, 2017

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