Breman A - Search Results

1

Factors that influence genetic counselors' participation in research.

Sikkink K, Delk P, Wetherill L, Breman A, Wesson M. Sikkink K, et al. Among authors: breman a. J Genet Couns. 2023 Apr;32(2):351-361. doi: 10.1002/jgc4.1642. Epub 2022 Oct 10. J Genet Couns. 2023. PMID: 36210790

2

Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study.

Richardson B, Fitzgerald-Butt SM, Spoonamore KG, Wetherill L, Helm BM, Breman AM. Richardson B, et al. Among authors: breman am. J Genet Couns. 2022 Apr;31(2):479-488. doi: 10.1002/jgc4.1514. Epub 2021 Sep 27. J Genet Couns. 2022. PMID: 34570930

3

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease.

Arya P, Wilson TE, Parent JJ, Ware SM, Breman AM, Helm BM. Arya P, et al. Eur J Med Genet. 2020 Apr;63(4):103797. doi: 10.1016/j.ejmg.2019.103797. Epub 2019 Oct 22. Eur J Med Genet. 2020. PMID: 31654754

4

A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect.

Iwata-Otsubo A, Klee VH, Ahmad AA, Walsh LE, Breman AM. Iwata-Otsubo A, et al. Among authors: breman am. Clin Case Rep. 2022 Nov 19;10(11):e6535. doi: 10.1002/ccr3.6535. eCollection 2022 Nov. Clin Case Rep. 2022. PMID: 36415709 Free PMC article.

5

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.

Vossaert L, Wang Q, Salman R, McCombs AK, Patel V, Qu C, Mancini MA, Edwards DP, Malovannaya A, Liu P, Shaw CA, Levy B, Wapner RJ, Bi W, Breman AM, Van den Veyver IB, Beaudet AL. Vossaert L, et al. Among authors: breman am. Am J Hum Genet. 2019 Dec 5;105(6):1262-1273. doi: 10.1016/j.ajhg.2019.11.004. Epub 2019 Nov 27. Am J Hum Genet. 2019. PMID: 31785788 Free PMC article.

6

Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.

Zhuo X, Wang Q, Vossaert L, Salman R, Kim A, Van den Veyver I, Breman A, Beaudet A. Zhuo X, et al. Among authors: breman a. PLoS One. 2021 Apr 15;16(4):e0249695. doi: 10.1371/journal.pone.0249695. eCollection 2021. PLoS One. 2021. PMID: 33857205 Free PMC article.

7

Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication.

Badar SA, Breman AM, Christensen CK, Graham BH, Golomb MR. Badar SA, et al. Among authors: breman am. Cytogenet Genome Res. 2022;162(1-2):40-45. doi: 10.1159/000521297. Epub 2022 Feb 9. Cytogenet Genome Res. 2022. PMID: 35139523

8

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.

Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, Beaudet AL, Breman AM, Smith J, Cheung SW, Bacino CA, Eng CM, Yang Y, Lupski JR, Bi W. Yuan B, et al. Among authors: breman am. Genet Med. 2020 Oct;22(10):1633-1641. doi: 10.1038/s41436-020-0864-8. Epub 2020 Jun 24. Genet Med. 2020. PMID: 32576985 Free PMC article.

9

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH. Wat MJ, et al. Among authors: breman am. Am J Med Genet A. 2009 Aug;149A(8):1661-77. doi: 10.1002/ajmg.a.32896. Am J Med Genet A. 2009. PMID: 19606479 Free PMC article.

10

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

El-Hattab AW, Skorupski JC, Hsieh MH, Breman AM, Patel A, Cheung SW, Craigen WJ. El-Hattab AW, et al. Among authors: breman am. Am J Med Genet A. 2010 Feb;152A(2):504-11. doi: 10.1002/ajmg.a.33226. Am J Med Genet A. 2010. PMID: 20101692 Free article.

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