Lehman A - Search Results

1

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.

Sharma M, Fu MP, Lu HY, Sharma AA, Modi BP, Michalski C, Lin S, Dalmann J, Salman A, Del Bel KL, Waqas M, Terry J, Setiadi A, Lavoie PM, Wasserman WW, Mwenifumbo J, Kobor MS, Lee AF, Kuchenbauer F, Lehman A, Cheng S, Cooper A, Patel MS, Turvey SE. Sharma M, et al. Among authors: lehman a. Blood. 2022 Oct 27;140(17):1858-1874. doi: 10.1182/blood.2022015674. Blood. 2022. PMID: 35789258 Free article.

2

Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.

Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS. Lehman AM, et al. Am J Med Genet A. 2008 May 15;146A(10):1299-306. doi: 10.1002/ajmg.a.32277. Am J Med Genet A. 2008. PMID: 18398855

3

Childhood-onset hemiatrophy caused by unilateral morphea.

Lehman AM, Patel MS. Lehman AM, et al. Clin Dysmorphol. 2009 Oct;18(4):213-4. doi: 10.1097/MCD.0b013e32832a9e0c. Clin Dysmorphol. 2009. PMID: 19543082 No abstract available.

4

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.

Lehman AM, du Souich C, Chai D, Eydoux P, Huang JL, Fok AK, Avila L, Swingland J, Delaney AD, McGillivray B, Goldowitz D, Argiropoulos B, Kobor MS, Boerkoel CF. Lehman AM, et al. Clin Genet. 2012 Jan;81(1):56-63. doi: 10.1111/j.1399-0004.2010.01615.x. Epub 2011 Jan 19. Clin Genet. 2012. PMID: 21204797

5

Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain.

Lehman AM, Cowan JR, McFadden DE, Patel MS. Lehman AM, et al. Am J Med Genet A. 2014 Jul;164A(7):1860-2. doi: 10.1002/ajmg.a.36529. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700809 No abstract available.

6

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

Lehman A, Stittrich AB, Glusman G, Zong Z, Li H, Eydoux P, Senger C, Lyons C, Roach JC, Patel M. Lehman A, et al. Am J Med Genet A. 2014 Oct;164A(10):2656-62. doi: 10.1002/ajmg.a.36685. Epub 2014 Aug 4. Am J Med Genet A. 2014. PMID: 25091416 Free PMC article.

7

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.

Bourne SC, Townsend KN, Shyr C, Matthews A, Lear SA, Attariwala R, Lehman A, Wasserman WW, van Karnebeek C, Sinclair G, Vallance H, Gibson WT. Bourne SC, et al. Among authors: lehman a. Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001156. doi: 10.1101/mcs.a001156. Cold Spring Harb Mol Case Stud. 2017. PMID: 28050599 Free PMC article.

8

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?

Myers A, du Souich C, Yang CL, Borovik L, Mwenifumbo J, Rupps R, Study C, Lehman A, Boerkoel CF. Myers A, et al. Among authors: lehman a. Am J Med Genet A. 2017 Dec;173(12):3172-3181. doi: 10.1002/ajmg.a.38462. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884888

9

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.

Dragojlovic N, Elliott AM, Adam S, van Karnebeek C, Lehman A, Mwenifumbo JC, Nelson TN, du Souich C, Friedman JM, Lynd LD. Dragojlovic N, et al. Among authors: lehman a. Genet Med. 2018 Sep;20(9):1013-1021. doi: 10.1038/gim.2017.226. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300375 Free article. Review.

10

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.

Elliott AM, du Souich C, Lehman A, Guella I, Evans DM, Candido T, Tooman L, Armstrong L, Clarke L, Gibson W, Gill H, Lavoie PM, Lewis S, McKinnon ML, Nikkel SM, Patel M, Solimano A, Synnes A, Ting J, van Allen M, Christilaw J, Farrer MJ, Friedman JM, Osiovich H. Elliott AM, et al. Among authors: lehman a. Eur J Pediatr. 2019 Aug;178(8):1207-1218. doi: 10.1007/s00431-019-03399-4. Epub 2019 Jun 7. Eur J Pediatr. 2019. PMID: 31172278

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