Kruszka PS - Search Results

1

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy.

Kruszka PS, Kirmse B, Zand DJ, Cusmano-Ozog K, Spector E, Van Hove JL, Chapman KA. Kruszka PS, et al. Mol Genet Metab Rep. 2014 May 22;1:237-240. doi: 10.1016/j.ymgmr.2014.04.007. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896094 Free PMC article.

2

Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations.

Kruszka P, Tekendo-Ngongang C. Kruszka P, et al. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32059. doi: 10.1002/ajmg.c.32059. Epub 2023 Aug 3. Am J Med Genet C Semin Med Genet. 2023. PMID: 37534870 Review.

3

Renal growth in isolated methylmalonic acidemia.

Kruszka PS, Manoli I, Sloan JL, Kopp JB, Venditti CP. Kruszka PS, et al. Genet Med. 2013 Dec;15(12):990-6. doi: 10.1038/gim.2013.42. Epub 2013 May 2. Genet Med. 2013. PMID: 23639900 Free PMC article.

4

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. Kruszka P, et al. J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20. J Med Genet. 2015. PMID: 25412741 Free PMC article.

5

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. 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.

6

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.

Kruszka P, Tanpaiboon P, Neas K, Crosby K, Berger SI, Martinez AF, Addissie YA, Pongprot Y, Sittiwangkul R, Silvilairat S, Makonkawkeyoon K, Yu L, Wynn J, Bennett JT, Mefford HC, Reynolds WT, Liu X, Mommersteeg MTM, Chung WK, Lo CW, Muenke M. Kruszka P, et al. J Med Genet. 2017 Dec;54(12):825-829. doi: 10.1136/jmedgenet-2017-104611. Epub 2017 Jun 7. J Med Genet. 2017. PMID: 28592524

7

Novel heterozygous variants in KMT2D associated with holoprosencephaly.

Tekendo-Ngongang C, Kruszka P, Martinez AF, Muenke M. Tekendo-Ngongang C, et al. Clin Genet. 2019 Sep;96(3):266-270. doi: 10.1111/cge.13598. Epub 2019 Jul 15. Clin Genet. 2019. PMID: 31282990 Free PMC article.

8

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

Kruszka P, Uwineza A, Mutesa L, Martinez AF, Abe Y, Zackai EH, Ganetzky R, Chung B, Stevenson RE, Adelstein RS, Ma X, Mullikin JC, Hong SK, Muenke M. Kruszka P, et al. Mol Genet Genomic Med. 2015 Sep;3(5):424-32. doi: 10.1002/mgg3.153. Epub 2015 May 6. Mol Genet Genomic Med. 2015. PMID: 26436108 Free PMC article.

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. 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

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Kruszka P, Berger SI, Weiss K, Everson JL, Martinez AF, Hong S, Anyane-Yeboa K, Lipinski RJ, Muenke M. Kruszka P, et al. Am J Hum Genet. 2019 May 2;104(5):990-993. doi: 10.1016/j.ajhg.2019.03.017. Epub 2019 Apr 18. Am J Hum Genet. 2019. PMID: 31006510 Free PMC article.

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