McConkie-Rosell A - Search Results

1

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 Free PMC article.

2

Parental attitudes regarding carrier testing in children at risk for fragile X syndrome.

McConkie-Rosell A, Spiridigliozzi GA, Rounds K, Dawson DV, Sullivan JA, Burgess D, Lachiewicz AM. McConkie-Rosell A, et al. Am J Med Genet. 1999 Jan 29;82(3):206-11. Am J Med Genet. 1999. PMID: 10215541

3

Carrier testing in fragile X syndrome: effect on self-concept.

McConkie-Rosell A, Spiridigliozzi GA, Sullivan JA, Dawson DV, Lachiewicz AM. McConkie-Rosell A, et al. Am J Med Genet. 2000 Jun 19;92(5):336-42. doi: 10.1002/1096-8628(20000619)92:5<336::aid-ajmg8>3.0.co;2-l. Am J Med Genet. 2000. PMID: 10861663

4

Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.

McConkie-Rosell A, Spiridigliozzi GA, Sullivan JA, Dawson DV, Lachiewicz AM. McConkie-Rosell A, et al. Am J Med Genet. 2001 Jan 1;98(1):37-45. Am J Med Genet. 2001. PMID: 11426454

5

Carrier testing in fragile X syndrome: when to tell and test.

McConkie-Rosell A, Spiridigliozzi GA, Sullivan JA, Dawson DV, Lachiewicz AM. McConkie-Rosell A, et al. Am J Med Genet. 2002 Jun 1;110(1):36-44. doi: 10.1002/ajmg.10396. Am J Med Genet. 2002. PMID: 12116269

6

Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling.

Shashi V, Keshavan M, Kaczorowski J, Schoch K, Lewandowski KE, McConkie-Rosell A, Hooper SR, Kwapil TR. Shashi V, et al. J Genet Couns. 2010 Oct;19(5):535-44. doi: 10.1007/s10897-010-9309-x. Epub 2010 Aug 3. J Genet Couns. 2010. PMID: 20680421 Free PMC article.

7

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.

Shashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, Jiang YH, Xie P, Need A, Goldstein DB. Shashi V, et al. Genet Med. 2014 Feb;16(2):176-82. doi: 10.1038/gim.2013.99. Epub 2013 Aug 29. Genet Med. 2014. PMID: 23928913 Free article.

8

Practical considerations in the clinical application of whole-exome sequencing.

Shashi V, McConkie-Rosell A, Schoch K, Kasturi V, Rehder C, Jiang YH, Goldstein DB, McDonald MT. Shashi V, et al. Clin Genet. 2016 Feb;89(2):173-81. doi: 10.1111/cge.12569. Epub 2015 Mar 15. Clin Genet. 2016. PMID: 25678066

9

Genetic Counseling-Stress, Coping, and the Empowerment Perspective.

McConkie-Rosell A, Sullivan JA. McConkie-Rosell A, et al. J Genet Couns. 1999 Dec;8(6):345-57. doi: 10.1023/A:1022919325772. J Genet Couns. 1999. PMID: 26140825

10

Editorial Introduction.

McConkie-Rosell A, Sullivan JA. McConkie-Rosell A, et al. J Genet Couns. 2002 Feb;11(1):1-3. doi: 10.1023/A:1013889613786. J Genet Couns. 2002. PMID: 26141557 Free article. No abstract available.

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