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Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1888
By:
- Nicholas, Thomas J.;
- Al‐Sweel, Najla;
- Farrell, Andrew;
- Mao, Rong;
- Bayrak‐Toydemir, Pinar;
- Miller, Christine E.;
- Bentley, Dawn;
- Palmquist, Rachel;
- Moore, Barry;
- Hernandez, Edgar J.;
- Cormier, Michael J.;
- Fredrickson, Eric;
- Noble, Katherine;
- Rynearson, Shawn;
- Holt, Carson;
- Karren, Mary Anne;
- Bonkowsky, Joshua L.;
- Tristani‐Firouzi, Martin;
- Yandell, Mark;
- Marth, Gabor
Publication type:
Article
Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25028-1
By:
- Singh, Priti;
- Fragoza, Robert;
- Blengini, Cecilia S.;
- Tran, Tina N.;
- Pannafino, Gianno;
- Al-Sweel, Najla;
- Schimenti, Kerry J.;
- Schindler, Karen;
- Alani, Eric A.;
- Yu, Haiyuan;
- Schimenti, John C.
Publication type:
Article
Genome‐wide uniparental disomy as a mechanism of immune escape in acquired aplastic anaemia.
Published in:
British Journal of Haematology, 2022, v. 198, n. 6, p. e78, doi. 10.1111/bjh.18351
By:
- Tantravahi, Srinivas K.;
- Huber, Bryan D.;
- Vagher, Jennie;
- Maese, Luke;
- Pomicter, Anthony D.;
- Al‐Sweel, Najla;
- Asch, Julie D.;
- Toydemir, Reha M.;
- Hong, Bo;
- Parker, Charles
Publication type:
Article
Mlh3 mutations in baker’s yeast alter meiotic recombination outcomes by increasing noncrossover events genome-widede.
Published in:
PLoS Genetics, 2017, v. 13, n. 8, p. 1, doi. 10.1371/journal.pgen.1006974
By:
- Al-Sweel, Najla;
- Raghavan, Vandana;
- Dutta, Abhishek;
- Ajith, V. P.;
- Di Vietro, Luigi;
- Khondakar, Nabila;
- Manhart, Carol M.;
- Surtees, Jennifer A.;
- Nishant, K. T.;
- Alani, Eric
Publication type:
Article
Incompatibilities in Mismatch Repair Genes MLH1-PMS1 Contribute to a Wide Range of Mutation Rates in Human Isolates of Baker's Yeast.
Published in:
Genetics, 2018, v. 210, n. 4, p. 1253, doi. 10.1534/genetics.118.301550
By:
- Raghavan, Vandana;
- Bui, Duyen T.;
- Al-Sweel, Najla;
- Aquadro, Charles F.;
- Alani, Eric;
- Friedrich, Anne;
- Schacherer, Joseph
Publication type:
Article
Mismatch Repair Incompatibilities in Diverse Yeast Populations.
Published in:
Genetics, 2017, v. 205, n. 4, p. 1459, doi. 10.1534/genetics.116.199513
By:
- Duyen T. Bui;
- Friedrich, Anne;
- Al-Sweel, Najla;
- Liti, Gianni;
- Schacherer, Joseph;
- Aquadro, Charles F.;
- Alani, Eric
Publication type:
Article
Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1238, doi. 10.1002/humu.24009
By:
- Ballout, Rami A.;
- Dickerson, Cheryl;
- Wick, Myra J.;
- Al‐Sweel, Najla;
- Openshaw, Amanda S.;
- Srivastava, Siddharth;
- Swanson, Lindsay C.;
- Bramswig, Nuria C.;
- Kuechler, Alma;
- Hong, Bo;
- Fleming, Leah R.;
- Curry, Kathryn;
- Robertson, Stephen P.;
- Andersen, Erica F.;
- El‐Hattab, Ayman W.
Publication type:
Article

Found: 7

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.

Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging.

Genome‐wide uniparental disomy as a mechanism of immune escape in acquired aplastic anaemia.

Mlh3 mutations in baker’s yeast alter meiotic recombination outcomes by increasing noncrossover events genome-widede.

Incompatibilities in Mismatch Repair Genes MLH1-PMS1 Contribute to a Wide Range of Mutation Rates in Human Isolates of Baker's Yeast.

Mismatch Repair Incompatibilities in Diverse Yeast Populations.

Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.