Lah M - Search Results

1

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.

2

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.

3

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

4

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.

5

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

6

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. Thorpe E, et al. Among authors: lah md. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006. Epub 2024 Jun 5. Am J Hum Genet. 2024. PMID: 38843839 Free PMC article.

7

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

8

Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic.

Allison CO, Prucka SK, Fitzgerald-Butt SM, Helm BM, Lah M, Wetherill L, Baud RE. Allison CO, et al. Among authors: lah m. J Community Genet. 2022 Aug;13(4):449-458. doi: 10.1007/s12687-022-00598-9. Epub 2022 Jul 7. J Community Genet. 2022. PMID: 35794442 Free PMC article.

9

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

10

Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency.

McPheron M, Lah M. McPheron M, et al. Among authors: lah m. JIMD Rep. 2019;45:83-87. doi: 10.1007/8904_2018_145. Epub 2018 Nov 8. JIMD Rep. 2019. PMID: 30406504 Free PMC article.

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