Helm BM - Search Results

1

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.

Helm BM, Willer JR, Sadeghpour A, Golzio C, Crouch E, Vergano SS, Katsanis N, Davis EE. Helm BM, et al. Hum Genomics. 2017 Jul 19;11(1):16. doi: 10.1186/s40246-017-0111-9. Hum Genomics. 2017. PMID: 28724397 Free PMC article.

2

Three clinical experiences with SNP array results consistent with parental incest: a narrative with lessons learned.

Helm BM, Langley K, Spangler B, Vergano S. Helm BM, et al. J Genet Couns. 2014 Aug;23(4):489-95. doi: 10.1007/s10897-013-9669-0. Epub 2013 Nov 13. J Genet Couns. 2014. PMID: 24222483

3

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study; Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Chaudhry A, et al. Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25131214

4

Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.

Murray SB, Spangler BB, Helm BM, Vergano SS. Murray SB, et al. Among authors: helm bm. Am J Med Genet A. 2015 Oct;167A(10):2402-5. doi: 10.1002/ajmg.a.37171. Epub 2015 May 26. Am J Med Genet A. 2015. PMID: 26012591

5

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.

Reittinger AM, Helm BM, Boles DJ, Gadi IK, Schrier Vergano SA. Reittinger AM, et al. Among authors: helm bm. Am J Med Genet A. 2017 Sep;173(9):2528-2533. doi: 10.1002/ajmg.a.38344. Epub 2017 Jun 27. Am J Med Genet A. 2017. PMID: 28653809

6

Mosaic trisomy 15 in a liveborn infant.

McPadden J, Helm BM, Spangler BB, Ross LP, Boles DB, Schrier Vergano SA. McPadden J, et al. Among authors: helm bm. Am J Med Genet A. 2015 Apr;167A(4):821-5. doi: 10.1002/ajmg.a.36958. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25736076

7

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. Among authors: helm bm. 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

8

Congenital heart defects caused by FOXJ1.

Padua MB, Helm BM, Wells JR, Smith AM, Bellchambers HM, Sridhar A, Ware SM. Padua MB, et al. Among authors: helm bm. Hum Mol Genet. 2023 Jul 4;32(14):2335-2346. doi: 10.1093/hmg/ddad065. Hum Mol Genet. 2023. PMID: 37158461 Free PMC article.

9

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA. Helm BM, et al. Am J Med Genet A. 2017 Oct;173(10):2814-2820. doi: 10.1002/ajmg.a.38404. Epub 2017 Aug 17. Am J Med Genet A. 2017. PMID: 28815955

10

Clinical characterisation of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathy.

Kean AC, Helm BM, Vatta M, Ayers MD, Parent JJ, Darragh RK. Kean AC, et al. Among authors: helm bm. Cardiol Young. 2019 Oct;29(10):1257-1263. doi: 10.1017/S1047951119001860. Cardiol Young. 2019. PMID: 31477192

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