GENOME-SCALE SEQUENCING TO IDENTIFY GENES INVOLVED IN MENDELIAN DISORDERS

Por Markello, Thomas C, Adams, David R
Publicado em 2013

An Apparent Homozygous Deletion in Maltase-Glucoamylase, a Lesson in the Evolution of SNP Arrays

Por Eccleston, Jason, Koh, Christopher, Markello, Thomas C., Gahl, William A., Heller, Theo
Publicado em 2012

BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies

Por Jee, Youn Hee, Sowada, Nadine, Markello, Thomas C., Rezvani, Iraj, Borck, Guntram, Baron, Jeffrey
Publicado no Clin Genet (2016)

Trisomy 21 in one of extremely low birth weight twins

Por Solomon, Benjamin D., Balachandar, Divya, Perry, Karen, Carrillo-Carrasco, Nuria, Markello, Thomas C., Rais-Bahrami, Khodayar
Publicado em 2008

Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Reexamination of the Evidence for Locus Heterogeneity

Por Bui, Tina, Young, Jonathan W., Frausto, Ricardo F., Markello, Thomas C., Glasgow, Ben J., Aldave, Anthony J.
Publicado em 2014

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

Por Sweadner, Kathleen J., Toro, Camilo, Whitlow, Christopher T., Snively, Beverly M., Cook, Jared F., Ozelius, Laurie J., Markello, Thomas C., Brashear, Allison
Publicado no PLoS One (2016)

PTPRF is disrupted in a patient with syndromic amastia

Por Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Praphanphoj, Verayuth, Mahatumarat, Charan, Rojvachiranonda, Nond, Snabboon, Thiti, Markello, Thomas C, Gahl, William A, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado em 2011

Explorations to improve the completeness of exome sequencing

Por Du, Chen, Pusey, Barbara N., Adams, Christopher J., Lau, C. Christopher, Bone, William P., Gahl, William A., Markello, Thomas C., Adams, David R.
Publicado no BMC Med Genomics (2016)

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

Por Gahl, William A., Mulvihill, John J., Toro, Camilo, Markello, Thomas C., Wise, Anastasia L., Ramoni, Rachel B., Adams, David R., Tifft, Cynthia J.
Publicado no Mol Genet Metab (2016)

Pirfenidone for the treatment of Hermansky-Pudlak Syndrome pulmonary fibrosis

Por O’Brien, Kevin, Troendle, James, Gochuico, Bernadette R., Markello, Thomas C., Salas, Jose, Cardona, Hilda, Yao, Jianhua, Bernardini, Isa, Hess, Richard, Gahl, William A.
Publicado em 2011

Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation

Por Tatsi, Christina, Gkourogianni, Alexandra, Mohnike, Klaus, DeArment, Diana, Witchel, Selma, Andrade, Anenisia C., Markello, Thomas C., Baron, Jeffrey, Nilsson, Ola, Jee, Youn Hee
Publicado no J Endocr Soc (2017)

Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1

Por Rouhani, Farshid N., Brantly, Mark L., Markello, Thomas C., Helip-Wooley, Amanda, O'Brien, Kevin, Hess, Richard, Huizing, Marjan, Gahl, William A., Gochuico, Bernadette R.
Publicado em 2009

Ribosomal protein gene deletions in Diamond-Blackfan anemia

Por Farrar, Jason E., Vlachos, Adrianna, Atsidaftos, Eva, Carlson-Donohoe, Hannah, Markello, Thomas C., Arceci, Robert J., Ellis, Steven R., Lipton, Jeffrey M., Bodine, David M.
Publicado em 2011

Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum

Por Markello, Thomas C., Pak, Laura K., Hilaire, Cynthia, Dorward, Heidi, Ziegler, Shira G., Chen, Marcus Y., Chaganti, Krishna, Nussbaum, Robert L., Boehm, Manfred, Gahl, William A.
Publicado em 2011

Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome

Por Trimble, Aaron, Gochuico, Bernadette R., Markello, Thomas C., Fischer, Roxanne, Gahl, William A., Lee, Jae K., Kim, Youngchul, Burdick, Marie D., Strieter, Robert M., Mehrad, Borna
Publicado no Am J Respir Crit Care Med (2014)

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B

Por Ferreira, Carlos R., Chen, Dong, Abraham, Shirley M., Adams, David R., Simon, Karen L., Malicdan, May C., Markello, Thomas C., Gunay-Aygun, Meral, Gahl, William A.
Publicado no Mol Genet Metab (2016)

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome type 2

Por Vincent, Lisa M., Gilbert, Fred, DiPace, Jennifer I., Ciccone, Carla, Markello, Thomas C., Jeong, Andrew, Dorward, Heidi, Westbroek, Wendy, Gahl, William A., Bussel, James B., Huizing, Marjan
Publicado em 2010

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering

Por Markello, Thomas C., Han, Ted, Carlson-Donohoe, Hannah, Ahaghotu, Chidi, Harper, Ursula, Jones, MaryPat, Chandrasekharappa, Settara, Anikster, Yair, Adams, David R., Gahl, William A., Boerkoel, Cornelius F.
Publicado em 2011

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features

Por Taveira-DaSilva, Angelo M, Markello, Thomas C, Kleiner, David E, Jones, Amanda M, Groden, Catherine, Macnamara, Ellen, Yokoyama, Tadafumi, Gahl, William A, Gochuico, Bernadette R, Moss, Joel
Publicado no J Med Genet (2019)

Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Por Cullinane, Andrew R., Vilboux, Thierry, O’Brien, Kevin, Curry, James A., Maynard, Dawn M., Carlson-Donohoe, Hannah, Ciccone, Carla, Markello, Thomas C., Gunay-Aygun, Meral, Huizing, Marjan, Gahl, William A.
Publicado em 2011