Plunkett K - Search Results

1

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

Nagamani SC, Erez A, Bay C, Pettigrew A, Lalani SR, Herman K, Graham BH, Nowaczyk MJ, Proud M, Craigen WJ, Hopkins B, Kozel B, Plunkett K, Hixson P, Stankiewicz P, Patel A, Cheung SW. Nagamani SC, et al. Among authors: plunkett k. Eur J Hum Genet. 2012 Feb;20(2):176-9. doi: 10.1038/ejhg.2011.171. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934713 Free PMC article.

2

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.

Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW. Bi W, et al. Among authors: plunkett k. J Med Genet. 2012 Nov;49(11):681-8. doi: 10.1136/jmedgenet-2012-101002. Epub 2012 Oct 5. J Med Genet. 2012. PMID: 23042811

3

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Campbell IM, et al. Among authors: plunkett ks. Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087610 Free PMC article.

4

A novel 8.5 MB dup(1)(p34.1p34.3) characterized by FISH in a child presenting with congenital heart defect and dysmorphic features.

Lennon PA, Boerkoel CF, Plunkett K, Soukam S, Cheung SW, Patel A. Lennon PA, et al. Among authors: plunkett k. Am J Med Genet A. 2006 Sep 1;140A(17):1864-70. doi: 10.1002/ajmg.a.31392. Am J Med Genet A. 2006. PMID: 16892326

5

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives.

Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM. Darilek S, et al. Among authors: plunkett k. Genet Med. 2008 Jan;10(1):13-8. doi: 10.1097/GIM.0b013e31815f1ddb. Genet Med. 2008. PMID: 18197052 Free article. Review.

6

The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm.

Erez A, Plunkett K, Sutton VR, McGuire AL. Erez A, et al. Among authors: plunkett k. Am J Med Genet A. 2010 Jul;152A(7):1774-80. doi: 10.1002/ajmg.a.33432. Am J Med Genet A. 2010. PMID: 20583190 Free PMC article.

7

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.

Gana S, Veggiotti P, Sciacca G, Fedeli C, Bersano A, Micieli G, Maghnie M, Ciccone R, Rossi E, Plunkett K, Bi W, Sutton VR, Zuffardi O. Gana S, et al. Among authors: plunkett k. Eur J Hum Genet. 2012 Aug;20(8):852-6. doi: 10.1038/ejhg.2012.19. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378287 Free PMC article.

8

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.

Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Lalani SR, et al. Among authors: plunkett k. Arch Neurol. 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317. Arch Neurol. 2005. PMID: 15710863

9

Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.

Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA. Sutton VR, et al. Among authors: plunkett k. Am J Med Genet A. 2009 Sep;149A(9):1916-21. doi: 10.1002/ajmg.a.32791. Am J Med Genet A. 2009. PMID: 19676059

10

A general approach to genetic counseling.

Plunkett KS, Simpson JL. Plunkett KS, et al. Obstet Gynecol Clin North Am. 2002 Jun;29(2):265-76. doi: 10.1016/s0889-8545(02)00003-7. Obstet Gynecol Clin North Am. 2002. PMID: 12108827 Review.

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