Brandt T - Search Results

1

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.

Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Brandt T, et al. Genet Med. 2020 Feb;22(2):336-344. doi: 10.1038/s41436-019-0655-2. Epub 2019 Sep 19. Genet Med. 2020. PMID: 31534211 Free article.

2

Effect of copy number variants on outcomes for infants with single ventricle heart defects.

Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD. Carey AS, et al. Among authors: brandt t. Circ Cardiovasc Genet. 2013 Oct;6(5):444-51. doi: 10.1161/CIRCGENETICS.113.000189. Epub 2013 Sep 10. Circ Cardiovasc Genet. 2013. PMID: 24021551 Free PMC article. Clinical Trial.

3

Clinical application of whole-exome sequencing across clinical indications.

Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S. Retterer K, et al. Among authors: brandt t. Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3. Genet Med. 2016. PMID: 26633542 Free article.

4

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.

Lindy AS, Stosser MB, Butler E, Downtain-Pickersgill C, Shanmugham A, Retterer K, Brandt T, Richard G, McKnight DA. Lindy AS, et al. Among authors: brandt t. Epilepsia. 2018 May;59(5):1062-1071. doi: 10.1111/epi.14074. Epub 2018 Apr 14. Epilepsia. 2018. PMID: 29655203

5

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.

Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Johnson AK, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Brandt T, et al. Genet Med. 2020 Mar;22(3):670-671. doi: 10.1038/s41436-019-0725-5. Genet Med. 2020. PMID: 31844178 Free article.

6

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.

Singh S, Gupta A, Zech M, Sigafoos AN, Clark KJ, Dincer Y, Wagner M, Humberson JB, Green S, van Gassen K, Brandt T, Schnur RE, Millan F, Si Y, Mall V, Winkelmann J, Gavrilova RH, Klee EW, Engleman K, Safina NP, Slaugh R, Bryant EM, Tan WH, Granadillo J, Misra SN, Schaefer GB, Towner S, Brilstra EH, Koeleman BPC. Singh S, et al. Among authors: brandt t. Genet Med. 2020 Aug;22(8):1413-1417. doi: 10.1038/s41436-020-0815-4. Epub 2020 May 5. Genet Med. 2020. PMID: 32366965 Free PMC article.

7

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.

Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L. Scott SA, et al. Among authors: brandt t. Genet Med. 2010 Feb;12(2):85-92. doi: 10.1097/GIM.0b013e3181cc75d0. Genet Med. 2010. PMID: 20084009 Free article.

8

A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.

Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L, Edelmann L. Webb BD, et al. Among authors: brandt t. Clin Genet. 2014 Aug;86(2):155-60. doi: 10.1111/cge.12247. Epub 2013 Sep 2. Clin Genet. 2014. PMID: 23927549

9

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.

Scott SA, Cohen N, Brandt T, Warburton PE, Edelmann L. Scott SA, et al. Among authors: brandt t. Hum Mol Genet. 2010 Sep 1;19(17):3383-93. doi: 10.1093/hmg/ddq250. Epub 2010 Jun 22. Hum Mol Genet. 2010. PMID: 20570968 Free PMC article.

10

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L. Brandt T, et al. Am J Med Genet A. 2012 May;158A(5):1170-7. doi: 10.1002/ajmg.a.35267. Epub 2012 Apr 4. Am J Med Genet A. 2012. PMID: 22488896

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