Lah M - Search Results

1

Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial.

Miller JL, Gevers E, Bridges N, Yanovski JA, Salehi P, Obrynba KS, Felner EI, Bird LM, Shoemaker AH, Angulo M, Butler MG, Stevenson D, Abuzzahab J, Barrett T, Lah M, Littlejohn E, Mathew V, Cowen NM, Bhatnagar A; DESTINY PWS Investigators. Miller JL, et al. Among authors: lah m. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1676-1685. doi: 10.1210/clinem/dgad014. J Clin Endocrinol Metab. 2023. PMID: 36639249 Free PMC article. Clinical Trial.

2

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

Lah M, Niranjan T, Srikanth S, Holloway L, Schwartz CE, Wang T, Weaver DD. Lah M, et al. Am J Med Genet A. 2016 Apr;170A(4):881-90. doi: 10.1002/ajmg.a.37567. Epub 2016 Jan 24. Am J Med Genet A. 2016. PMID: 26804200 Free PMC article.

3

Cancer Genetic Counselors' Current Practices and Attitudes Related to the Use of Tumor Profiling.

Goedde LN, Stupiansky NW, Lah M, Quaid KA, Cohen S. Goedde LN, et al. Among authors: lah m. J Genet Couns. 2017 Aug;26(4):878-886. doi: 10.1007/s10897-017-0065-z. Epub 2017 Jan 13. J Genet Couns. 2017. PMID: 28091859

4

Palynziq clinic: One year and 43 patients later.

Lah M, McPheron M. Lah M, et al. Mol Genet Metab. 2021 Jul;133(3):250-256. doi: 10.1016/j.ymgme.2021.05.006. Epub 2021 May 19. Mol Genet Metab. 2021. PMID: 34074593

5

An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome?

Jackson J, Delk P, Farrow E, Griffith C, Lah M, Weaver DD. Jackson J, et al. Among authors: lah m. Am J Med Genet A. 2015 Apr;167A(4):683-7. doi: 10.1002/ajmg.a.36927. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25708102

6

The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.

Feldman HR, Dlouhy SR, Lah MD, Payne KK, Weaver DD. Feldman HR, et al. Am J Med Genet A. 2019 Feb;179(2):300-305. doi: 10.1002/ajmg.a.60698. Epub 2018 Dec 14. Am J Med Genet A. 2019. PMID: 30549396

7

Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data.

Lah M, Cook K, Gomes DA, Liu S, Tabatabaeepour N, Kirson N, Chen E, Lindstrom K, Whitehall KB, Van Backle J, Burton BK. Lah M, et al. Mol Genet Metab Rep. 2022 Sep 25;33:100918. doi: 10.1016/j.ymgmr.2022.100918. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36176956 Free PMC article.

8

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.

Armstrong ME, Weaver DD, Lah MD, Vance GH, Landis BJ, Ware SM, Helm BM. Armstrong ME, et al. Among authors: lah md. Mol Cytogenet. 2018 Mar 27;11:23. doi: 10.1186/s13039-018-0372-6. eCollection 2018. Mol Cytogenet. 2018. PMID: 29599822 Free PMC article.

9

Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy.

Bari O, Skillman S, Lah MD, Haggstrom AN. Bari O, et al. Pediatr Dermatol. 2018 Jul;35(4):e218-e220. doi: 10.1111/pde.13498. Epub 2018 Apr 6. Pediatr Dermatol. 2018. PMID: 29633331

10

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.

Adams D, Andersson HC, Bausell H, Crivelly K, Eggerding C, Lah M, Lilienstein J, Lindstrom K, McNutt M, Ray JW, Saavedra H, Sacharow S, Starin D, Tiffany-Amaro J, Thomas J, Vucko E, Wessenberg LB, Whitehall K. Adams D, et al. Among authors: lah m. Mol Genet Metab Rep. 2021 Aug 14;28:100790. doi: 10.1016/j.ymgmr.2021.100790. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34430209 Free PMC article.

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