Clinical Versus Research Sequencing

od Shevchenko, Yuriy, Bale, Sherri
izdano v Cold Spring Harb Perspect Med (2016)

Evidence for autosomal dominance and pleiotropy of the cutaneous malignant melanoma (CMM)/Dysplastic nevus (DN) gene

od Bale, Sherri J., Chakravarti, Aravinda
Izdano 1987

Mutations in the CHD7 Gene: The Experience of a Commercial Laboratory

od Bartels, Cynthia F., Scacheri, Cheryl, White, Lashonda, Scacheri, Peter C., Bale, Sherri
Izdano 2010

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

od Leslie, Elizabeth J., Standley, Jennifer, Compton, John, Bale, Sherri, Schutte, Brian C., Murray, Jeffrey C.
Izdano 2013

CHARGE Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Non-Immunologic Phenotypic Features

od Jyonouchi, Soma, McDonald-McGinn, Donna M., Bale, Sherri, Zackai, Elaine H., Sullivan, Kathleen E.
Izdano 2009

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

od Garber, Kathryn B., Vincent, Lisa M., Alexander, John J., Bean, Lora J.H., Bale, Sherri, Hegde, Madhuri
izdano v Am J Hum Genet (2016)

Findings from the Peutz-Jeghers Syndrome Registry of Uruguay

od Tchekmedyian, Asadur, Amos, Christopher I., Bale, Sherri J., Zhu, Dakai, Arold, Stefan, Berrueta, Joaquin, Nabon, Natalie, McGarrity, Thomas
Izdano 2013

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations

od Rauen, Katherine A., Tidyman, William E., Estep, Anne L., Sampath, Srirangan, Peltier, Henry M., Bale, Sherri J., Lacassie, Yves
Izdano 2010

Transglutaminase-1 (TGM1) Gene Mutations in Autosomal Recessive Congenital Ichthyosis: Summary of Mutations (Including 23 Novel) and Modeling of TGase-1

od Herman, Matthew L., Farasat, Sharifeh, Steinbach, Peter J., Wei, Ming-Hui, Toure, Ousmane, Fleckman, Philip, Blake, Patrick, Bale, Sherri J., Toro, Jorge R.
Izdano 2009

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

od Domené, Sabina, Roessler, Erich, El-Jaick, Kenia B., Snir, Mirit, Brown, Jamie L., Vélez, Jorge I., Bale, Sherri, Lacbawan, Felicitas, Muenke, Maximilian, Feldman, Benjamin
Izdano 2008

The Full Spectrum of Holoprosencephaly-Associated Mutations within the ZIC2 Gene in Humans Predicts Loss-of-Function as the Predominant Disease Mechanism

od Roessler, Erich, Lacbawan, Felicitas, Dubourg, Christèle, Paulussen, Aimee, Herbergs, Jos, Hehr, Ute, Bendavid, Claude, Zhou, Nan, Ouspenskaia, Maia, Bale, Sherri, Odent, Sylvie, David, Vèronique, Muenke, Maximilian
Izdano 2009

Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar

od Harrison, Steven M., Dolinsky, Jill S., Knight Johnson, Amy E., Pesaran, Tina, Azzariti, Danielle R., Bale, Sherri, Chao, Elizabeth C., Das, Soma, Vincent, Lisa, Rehm, Heidi L.
izdano v Genet Med (2017)

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

od Richard, Gabriele, Rouan, Fatima, Willoughby, Colin E., Brown, Nkecha, Chung, Pil, Ryynänen, Markku, Jabs, Ethylin Wang, Bale, Sherri J., DiGiovanna, John J., Uitto, Jouni, Russell, Laura
Izdano 2002

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association...

od Richards, Sue, Aziz, Nazneen, Bale, Sherri, Bick, David, Das, Soma, Gastier-Foster, Julie, Grody, Wayne W., Hegde, Madhuri, Lyon, Elaine, Spector, Elaine, Voelkerding, Karl, Rehm, Heidi L.
izdano v Genet Med (2015)

ACMG clinical laboratory standards for next-generation sequencing

od Rehm, Heidi L., Bale, Sherri J, Bayrak-Toydemir, Pinar, Berg, Jonathan S, Brown, Kerry K, Deignan, Joshua L, Friez, Michael J, Funke, Birgit H, Hegde, Madhuri R, Lyon, Elaine
Izdano 2013

Therapeutic siRNAs for dominant genetic skin diseases including pachyonychia congenita

od Leachman, Sancy A., Hickerson, Robyn P., Hull, Peter R., Smith, Frances J. D., Milstone, Leonard M., Lane, E. Birgitte, Bale, Sherri J., Roop, Dennis R., McLean, W. H. Irwin, Kaspar, Roger L.
Izdano 2008

Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective: A Report of the Association for Molecular Pathology

od Hegde, Madhuri, Bale, Sherri, Bayrak-Toydemir, Pinar, Gibson, Jane, Bone Jeng, Linda Jo, Joseph, Loren, Laser, Jordan, Lubin, Ira M., Miller, Christine E., Ross, Lainie F., Rothberg, Paul G., Tanner, Alice K., Vitazka, Patrik, Mao, Rong
izdano v J Mol Diagn (2015)

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations

od Barnes, Aileen M., Duncan, Geraldine, Weis, MaryAnn, Paton, William, Cabral, Wayne A., Mertz, Edward L., Makareeva, Elena, Gambello, Michael J., Lacbawan, Felicitas L., Leikin, Sergey, Fertala, Andrzej, Eyre, David R., Bale, Sherri J., Marini, Joan C.
Izdano 2013

Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing

od Kalman, Lisa V., Tarleton, Jack C., Percy, Alan K., Aradhya, Swaroop, Bale, Sherri, Barker, Shannon D., Bayrak-Toydemir, Pinar, Bridges, Christina, Buller-Burckle, Arlene M., Das, Soma, Iyer, Ramaswamy K., Vo, Timothy D., Zvereff, Val V., Toji, Lorraine H.
Izdano 2014

The Mutational Spectrum of Holoprosencephaly-Associated Changes within the SHH Gene in Humans Predicts Loss-of-Function Through Either Key Structural Alterations of the Ligand or I...

od Roessler, Erich, El-Jaick, Kenia B., Dubourg, Christèle, Vélez, Jorge I., Solomon, Benjamin D., Pineda-Álvarez, Daniel E., Lacbawan, Felicitas, Zhou, Nan, Ouspenskaia, Maia, Paulussen, Aimée, Smeets, Hubert J., Hehr, Ute, Bendavid, Claude, Bale, Sherri, Odent, Sylvie, David, Véronique, Muenke, Maximilian
Izdano 2009