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

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.

3

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.

4

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.

5

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

6

Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health.

Sundstrom R, Wetherill L, Sapp K, McPheron M, Lah M. Sundstrom R, et al. Among authors: lah m. J Community Genet. 2023 Dec;14(6):627-638. doi: 10.1007/s12687-023-00667-7. Epub 2023 Oct 6. J Community Genet. 2023. PMID: 37798460 Free PMC article.

7

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.

Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Cabrales Guerra IDC, MacDonald A, Ingalls K, Smith N; APHENITY study group. Muntau AC, et al. Among authors: lah m. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3. Lancet. 2024. PMID: 39368841 Clinical Trial.

8

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

9

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

10

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

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