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Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2738, doi. 10.1002/ajmg.a.62893
By:
- Billington, Charles J.;
- Chapman, Kimberly A.;
- Leon, Eyby;
- Meltzer, Beatrix W.;
- Berger, Seth I.;
- Olson, Matthew;
- Figler, Robert A.;
- Hoang, Steve A.;
- Wanxing, Cui;
- Wamhoff, Brian R.;
- Collado, M. Sol;
- Cusmano‐Ozog, Kristina
Publication type:
Article
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis.
Published in:
Clinical Genetics, 2023, v. 104, n. 3, p. 377, doi. 10.1111/cge.14360
By:
- Berger, Seth I.;
- Pitsava, Georgia;
- Cohen, Andrea J.;
- Délot, Emmanuèle C.;
- LoTempio, Jonathan;
- Andrew, Erin Hallie;
- Martin, Gloria Mas;
- Marmolejos, Sofia;
- Albert, Jessica;
- Meltzer, Beatrix;
- Fraser, Jamie;
- Regier, Debra S.;
- Kahn‐Kirby, Amanda H.;
- Smith, Erica;
- Knoblach, Susan;
- Ko, Arthur;
- Fusaro, Vincent A.;
- Vilain, Eric
Publication type:
Article
A clinicopathologic study of diencephalic pediatric low-grade gliomas with BRAF V600 mutation.
Published in:
Acta Neuropathologica, 2015, v. 130, n. 4, p. 575, doi. 10.1007/s00401-015-1467-3
By:
- Ho, Cheng-Ying;
- Gordish-Dressman, Heather;
- Mason, Gary;
- Bornhorst, Miriam;
- Packer, Roger;
- Mobley, Bret;
- VandenBussche, Christopher;
- Burger, Peter;
- Rodriguez, Fausto;
- Esbenshade, Adam;
- Tehrani, Mahtab;
- Orr, Brent;
- LaFrance, Delecia;
- Devaney, Joseph;
- Meltzer, Beatrix;
- Hofherr, Sean
Publication type:
Article
BRCA1 functions as a novel transcriptional cofactor in HIV-1 infection.
Published in:
Virology Journal, 2015, v. 12, n. 1, p. 1, doi. 10.1186/s12985-015-0266-8
By:
- Guendel, Irene;
- Meltzer, Beatrix W.;
- Baer, Alan;
- Dever, Seth M.;
- Valerie, Kristoffer;
- Jia Guo;
- Yuntao Wu;
- Kehn-Hall, Kylene
Publication type:
Article

Found: 4

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.

Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis.

A clinicopathologic study of diencephalic pediatric low-grade gliomas with BRAF V600 mutation.

BRCA1 functions as a novel transcriptional cofactor in HIV-1 infection.