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1

Germline mutations of regulator of telomere elongation helicase 1,RTEL1, in Dyskeratosis congenita

Ballew, Bari J., Yeager, Meredith, Jacobs, Kevin, Giri, Neelam, Boland, Joseph, Burdett, Laurie, Alter, Blanche P., Savage, Sharon A.

Journal:

Year:

2013

Language:

english

File:

PDF, 373 KB

english, 2013

2

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

Ballew, Bari J, Savage, Sharon A

Journal:

Expert Review of Hematology

Year:

2013

Language:

english

File:

PDF, 4.99 MB

english, 2013

3

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Shi, Jianxin, Yang, Xiaohong R, Ballew, Bari, Rotunno, Melissa, Calista, Donato, Fargnoli, Maria Concetta, Ghiorzo, Paola, Bressac-de Paillerets, Brigitte, Nagore, Eduardo, Avril, Marie Francoise, Cap

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 844 KB

english, 2014

4

Characterization ofTgene sequence variants and germline duplications in familial and sporadic chordoma

Michael J. Kelley,Jianxin Shi,Bari Ballew,Paula L. Hyland,Wen-Qing Li…

Journal:

Year:

2014

Language:

english

File:

PDF, 259 KB

english, 2014

5

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

Kocak, Hande, Ballew, Bari J., Bisht, Kamlesh, Eggebeen, Rebecca, Hicks, Belynda D., Suman, Shalabh, O’Neil, Adri, Giri, Neelam, Maillard, Ivan, Alter, Blanche P., Keegan, Catherine E., Nandakumar, Ja

Journal:

Genes & Development

Year:

2014

Language:

english

File:

PDF, 962 KB

english, 2014

6

Multiple genetic pathways regulate replicative senescence in telomerase-deficient yeast

Ballew, Bari J., Lundblad, Victoria

Journal:

Year:

2013

Language:

english

File:

PDF, 451 KB

english, 2013

7

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

Ballew, Bari J., Joseph, Vijai, De, Saurav, Sarek, Grzegorz, Vannier, Jean-Baptiste, Stracker, Travis, Schrader, Kasmintan A., Small, Trudy N., O'Reilly, Richard, Manschreck, Chris, Harlan Fleischut,

Journal:

Year:

2013

Language:

english

File:

PDF, 1.48 MB

english, 2013

8

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

Burris, Ashley M., Ballew, Bari J., Kentosh, Joshua B., Turner, Clesson E., Norton, Scott A., Giri, Neelam, Alter, Blanche P., Nellan, Anandani, Gamper, Christopher, Hartman, Kip R., Savage, Sharon A.

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 1.53 MB

english, 2016

9

Novel FANCI mutations in Fanconi anemia with VACTERL association

Savage, Sharon A., Ballew, Bari J., Giri, Neelam, Chandrasekharappa, Settara C., Ameziane, Najim, de Winter, Johan, Alter, Blanche P.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 160 KB

english, 2016

10

Plenary Paper Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Cells, R E D, Mirabello, Lisa, Macari, Elizabeth R, Jessop, Lea, Ellis, Steven R, Myers, Timothy, Giri, Neelam, Taylor, Alison M, Mcgrath, Katherine E, Humphries, Jessica M, Ballew, Bari J, Yeager, Me

Year:

2015

Language:

english

File:

PDF, 1.27 MB

english, 2015

11

Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia

McReynolds, Lisa J., Wang, Youjin, Thompson, Ashley S., Ballew, Bari J., Kim, Jung, Alter, Blanche P., Hicks, Belynda, Zhu, Bin, Jones, Kristine, Spellman, Stephen R., Wang, Tao, Lee, Stephanie J., Sa

Journal:

Biology of Blood and Marrow Transplantation

Year:

2020

Language:

english

File:

PDF, 614 KB

english, 2020

12

Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radiusâlike phenotypes

Brodie, Seth A., Rodriguez-Aulet, Jean Paul, Giri, Neelam, Dai, Jieqiong, Steinberg, Mia, J. Waterfall, Joshua, Roberson, David, Ballew, Bari J., Zhou, Weiyin, Anzick, Sarah L., Jiang, Yuan, Wang, Yon

Journal:

Molecular Case Studies

Year:

2020

File:

PDF, 132 KB

2020

13

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radiusâlike phenotypes

Brodie, Seth A., Rodriguez-Aulet, Jean Paul, Giri, Neelam, Dai, Jieqiong, Steinberg, Mia, Waterfall, Joshua J., Roberson, David, Ballew, Bari J., Zhou, Weiyin, Anzick, Sarah L., Jiang, Yuan, Wang, Yon

Journal:

Molecular Case Studies

Year:

2019

File:

PDF, 3.12 MB

2019

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