Wojcik MH - Search Results

1

Infant mortality: the contribution of genetic disorders.

Wojcik MH, Schwartz TS, Thiele KE, Paterson H, Stadelmaier R, Mullen TE, VanNoy GE, Genetti CA, Madden JA, Gubbels CS, Yu TW, Tan WH, Agrawal PB. Wojcik MH, et al. J Perinatol. 2019 Dec;39(12):1611-1619. doi: 10.1038/s41372-019-0451-5. Epub 2019 Aug 8. J Perinatol. 2019. PMID: 31395954 Free PMC article.

2

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB. Wojcik MH, et al. JIMD Rep. 2018;39:45-54. doi: 10.1007/8904_2017_45. Epub 2017 Jul 20. JIMD Rep. 2018. PMID: 28726122 Free PMC article.

3

Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.

Wojcik MH, Schwartz TS, Yamin I, Edward HL, Genetti CA, Towne MC, Agrawal PB. Wojcik MH, et al. Genet Med. 2018 Nov;20(11):1396-1404. doi: 10.1038/gim.2018.17. Epub 2018 Apr 12. Genet Med. 2018. PMID: 29790870 Free PMC article.

4

Expanding the phenotypic spectrum associated with OPHN1 variants.

Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Schwartz TS, et al. Among authors: wojcik mh. Eur J Med Genet. 2019 Feb;62(2):137-143. doi: 10.1016/j.ejmg.2018.06.015. Epub 2018 Jun 28. Eur J Med Genet. 2019. PMID: 29960046 Free PMC article.

5

Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology.

Wojcik MH, Brodsky D, Stewart JE, Picker J. Wojcik MH, et al. J Perinatol. 2018 Sep;38(9):1125-1134. doi: 10.1038/s41372-018-0187-7. Epub 2018 Aug 3. J Perinatol. 2018. PMID: 30076402 Free PMC article. Review.

6

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.

Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB. Wojcik MH, et al. Am J Med Genet A. 2018 Dec;176(12):2623-2629. doi: 10.1002/ajmg.a.40493. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30151950 Free PMC article.

7

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB. Schmitz-Abe K, et al. Among authors: wojcik mh. Eur J Hum Genet. 2019 Sep;27(9):1398-1405. doi: 10.1038/s41431-019-0401-x. Epub 2019 Apr 12. Eur J Hum Genet. 2019. PMID: 30979967 Free PMC article.

8

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Edward HL, D'Gama AM, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB. Edward HL, et al. Among authors: wojcik mh. Am J Med Genet A. 2019 Jul;179(7):1299-1303. doi: 10.1002/ajmg.a.61150. Epub 2019 Apr 22. Am J Med Genet A. 2019. PMID: 31012281

9

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.

Wojcik MH, Linnea K, Stoler JM, Rappaport L. Wojcik MH, et al. Am J Med Genet A. 2019 Aug;179(8):1565-1569. doi: 10.1002/ajmg.a.61189. Epub 2019 May 10. Am J Med Genet A. 2019. PMID: 31074943 Free PMC article.

10

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

Yakoreva M, Kahre T, Žordania R, Reinson K, Teek R, Tillmann V, Peet A, Õiglane-Shlik E, Pajusalu S, Murumets Ü, Vals MA, Mee P, Wojcik MH, Õunap K. Yakoreva M, et al. Among authors: wojcik mh. Eur J Hum Genet. 2019 Nov;27(11):1649-1658. doi: 10.1038/s41431-019-0446-x. Epub 2019 Jun 11. Eur J Hum Genet. 2019. PMID: 31186545 Free PMC article.

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