Nykamp K - Search Results

1

Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene.

Moalem S, Keating S, Shannon P, Thompson M, Millar K, Nykamp K, Forster A, Noor A, Chitayat D. Moalem S, et al. Among authors: nykamp k. Am J Med Genet A. 2013 Jul;161A(7):1792-6. doi: 10.1002/ajmg.a.36036. Epub 2013 May 24. Am J Med Genet A. 2013. PMID: 23713026

2

The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

Kim RH, A Hall D, Cutz E, Knowles MR, Nelligan KA, Nykamp K, Zariwala MA, Dell SD. Kim RH, et al. Among authors: nykamp k. Ann Am Thorac Soc. 2014 Mar;11(3):351-9. doi: 10.1513/AnnalsATS.201306-194OC. Ann Am Thorac Soc. 2014. PMID: 24498942 Free PMC article.

3

Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

Tan CA, Rabideau M, Blevins A, Westbrook MJ, Ekstein T, Nykamp K, Deucher A, Harper A, Demmer L. Tan CA, et al. Among authors: nykamp k. Am J Med Genet A. 2016 Jun;170(6):1580-4. doi: 10.1002/ajmg.a.37611. Epub 2016 Mar 8. Am J Med Genet A. 2016. PMID: 26955893 Review.

4

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.

Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW. Davis SD, et al. Am J Respir Crit Care Med. 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. Am J Respir Crit Care Med. 2019. PMID: 30067075 Free PMC article.

5

Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.

Friedman E, Efrat N, Soussan-Gutman L, Dvir A, Kaplan Y, Ekstein T, Nykamp K, Powers M, Rabideau M, Sorenson J, Topper S. Friedman E, et al. Among authors: nykamp k. Br J Cancer. 2015 Feb 17;112(4):765-8. doi: 10.1038/bjc.2015.14. Epub 2015 Jan 29. Br J Cancer. 2015. PMID: 25633036 Free PMC article.

6

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Genet Med. 2017. PMID: 28492532 Free PMC article.

7

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S. Yang S, et al. Among authors: nykamp k. Genet Med. 2017 Oct;19(10):1118-1126. doi: 10.1038/gim.2017.60. Epub 2017 Jun 1. Genet Med. 2017. PMID: 28569743 Free PMC article.

8

Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases.

Zysman-Colman ZN, Kaspy KR, Alizadehfar R, NyKamp KR, Zariwala MA, Knowles MR, Vinh DC, Shapiro AJ. Zysman-Colman ZN, et al. J Clin Immunol. 2019 Feb;39(2):216-224. doi: 10.1007/s10875-019-00613-8. Epub 2019 Mar 26. J Clin Immunol. 2019. PMID: 30911954 Free PMC article.

9

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.

Morimoto K, Hijikata M, Zariwala MA, Nykamp K, Inaba A, Guo TC, Yamada H, Truty R, Sasaki Y, Ohta K, Kudoh S, Leigh MW, Knowles MR, Keicho N. Morimoto K, et al. Among authors: nykamp k. Mol Genet Genomic Med. 2019 Aug;7(8):e838. doi: 10.1002/mgg3.838. Epub 2019 Jul 4. Mol Genet Genomic Med. 2019. PMID: 31270959 Free PMC article.

10

Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9. Genet Med. 2020. PMID: 31346256 Free PMC article.

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