Muenke M - Search Results

1

Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report.

Kidwai FK, Mui BWH, Almpani K, Jani P, Keyvanfar C, Iqbal K, Paravastu SS, Arora D, Orzechowski P, Merling RK, Mallon B, Myneni VD, Ahmad M, Kruszka P, Muenke M, Woodcock J, Gilman JW, Robey PG, Lee JS. Kidwai FK, et al. Among authors: muenke m. J Dev Biol. 2021 Sep 22;9(4):39. doi: 10.3390/jdb9040039. J Dev Biol. 2021. PMID: 34698187 Free PMC article.

2

Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.

Kruszka P, Hart RA, Hadley DW, Muenke M, Habal MB. Kruszka P, et al. Among authors: muenke m. J Craniofac Surg. 2015 Jan;26(1):3-5. doi: 10.1097/SCS.0000000000001377. J Craniofac Surg. 2015. PMID: 25569381 No abstract available.

3

Executive Function and Adaptive Behavior in Muenke Syndrome.

Yarnell CM, Addissie YA, Hadley DW, Guillen Sacoto MJ, Agochukwu NB, Hart RA, Wiggs EA, Platte P, Paelecke Y, Collmann H, Schweitzer T, Kruszka P, Muenke M. Yarnell CM, et al. Among authors: muenke m. J Pediatr. 2015 Aug;167(2):428-34. doi: 10.1016/j.jpeds.2015.04.080. Epub 2015 May 28. J Pediatr. 2015. PMID: 26028288 Free PMC article.

4

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

Addissie YA, Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M. Addissie YA, et al. Among authors: muenke m. Am J Med Genet A. 2015 Nov;167A(11):2657-63. doi: 10.1002/ajmg.a.37259. Epub 2015 Aug 6. Am J Med Genet A. 2015. PMID: 26249544 Review.

5

Muenke syndrome: An international multicenter natural history study.

Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M. Kruszka P, et al. Among authors: muenke m. Am J Med Genet A. 2016 Apr;170A(4):918-29. doi: 10.1002/ajmg.a.37528. Epub 2016 Jan 6. Am J Med Genet A. 2016. PMID: 26740388

6

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.

Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanović A, Richieri-Costa A, Ribeiro-Bicudo LA, Kruszka P, Roessler E, Muenke M. Hong S, et al. Among authors: muenke m. Hum Mol Genet. 2016 May 15;25(10):1912-1922. doi: 10.1093/hmg/ddw064. Epub 2016 Feb 29. Hum Mol Genet. 2016. PMID: 26931467 Free PMC article.

7

An electronic atlas of human malformation syndromes in diverse populations.

Muenke M, Adeyemo A, Kruszka P. Muenke M, et al. Genet Med. 2016 Nov;18(11):1085-1087. doi: 10.1038/gim.2016.3. Epub 2016 Mar 3. Genet Med. 2016. PMID: 26938780 Free article. No abstract available.

8

Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.

Koretzky M, Bonham VL, Berkman BE, Kruszka P, Adeyemo A, Muenke M, Hull SC. Koretzky M, et al. Among authors: muenke m. Genet Med. 2016 Nov;18(11):1069-1074. doi: 10.1038/gim.2016.7. Epub 2016 Mar 10. Genet Med. 2016. PMID: 26963283 Free PMC article. Review.

9

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.

Murdock DR, Donovan FX, Chandrasekharappa SC, Banks N, Bondy C, Muenke M, Kruszka P. Murdock DR, et al. Among authors: muenke m. J Clin Endocrinol Metab. 2017 May 1;102(5):1529-1537. doi: 10.1210/jc.2016-3414. J Clin Endocrinol Metab. 2017. PMID: 28324009 Free PMC article.

10

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos.

Abe Y, Kruszka P, Martinez AF, Roessler E, Shiota K, Yamada S, Muenke M. Abe Y, et al. Among authors: muenke m. Anat Rec (Hoboken). 2018 Jun;301(6):973-986. doi: 10.1002/ar.23791. Epub 2018 Apr 16. Anat Rec (Hoboken). 2018. PMID: 29663664 Free article.

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