Lanpher BC - Search Results

1

Clinical and genetic characterization of AP4B1-associated SPG47.

Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT; CureSPG47. Ebrahimi-Fakhari D, et al. Among authors: lanpher bc. Am J Med Genet A. 2018 Feb;176(2):311-318. doi: 10.1002/ajmg.a.38561. Epub 2017 Nov 28. Am J Med Genet A. 2018. PMID: 29193663

2

Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.

McConkie-Rosell A, Spillmann RC, Schoch K, Sullivan JA, Walley N, McDonald M; Undiagnosed Diseases Network; Hooper SR, Shashi V. McConkie-Rosell A, et al. J Genet Couns. 2023 Oct;32(5):993-1008. doi: 10.1002/jgc4.1707. Epub 2023 Apr 2. J Genet Couns. 2023. PMID: 37005744

3

Participation in a national diagnostic research study: assessing the patient experience.

Rosenfeld LE, LeBlanc K, Nagy A, Ego BK; Undiagnosed Diseases Network; McCray AT. Rosenfeld LE, et al. Orphanet J Rare Dis. 2023 Apr 10;18(1):73. doi: 10.1186/s13023-023-02695-5. Orphanet J Rare Dis. 2023. PMID: 37032333 Free PMC article.

4

Continuing a search for a diagnosis: the impact of adolescence and family dynamics.

Miller IM, Yashar BM; Undiagnosed Disease Network; Macnamara EF. Miller IM, et al. Orphanet J Rare Dis. 2023 Jan 9;18(1):6. doi: 10.1186/s13023-022-02598-x. Orphanet J Rare Dis. 2023. PMID: 36624503 Free PMC article.

5

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.

Lu J, Toro C, Adams DR; Undiagnosed Diseases Network; Moreno CAM, Lee WP, Leung YY, Harms MB, Vardarajan B, Heinzen EL. Lu J, et al. BMC Genomics. 2024 Jan 26;25(1):115. doi: 10.1186/s12864-023-09935-9. BMC Genomics. 2024. PMID: 38279154 Free PMC article.

6

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

Halley MC, Young JL, Tang C, Mintz KT, Lucas-Griffin S, Maghiro A, Ashley EA, Tabor HK; Undiagnosed Diseases Network. Halley MC, et al. J Pediatr. 2023 Oct;261:113537. doi: 10.1016/j.jpeds.2023.113537. Epub 2023 Jun 2. J Pediatr. 2023. PMID: 37271495

7

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Vanderver A, et al. Am J Med Genet A. 2014 Mar;164A(3):627-33. doi: 10.1002/ajmg.a.36309. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375884 Free PMC article.

8

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC. Boczek NJ, et al. Among authors: lanpher bc. Am J Med Genet A. 2017 May;173(5):1328-1333. doi: 10.1002/ajmg.a.38113. Epub 2017 Mar 21. Am J Med Genet A. 2017. PMID: 28322501

9

Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients.

Kaeppler KE, Stetson RC, Lanpher BC, Collura CA. Kaeppler KE, et al. Among authors: lanpher bc. Am J Med Genet A. 2018 Dec;176(12):2911-2914. doi: 10.1002/ajmg.a.40645. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450804 Review.

10

Kabuki syndrome: international consensus diagnostic criteria.

Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. Among authors: lanpher bc. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738

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