Schmitz-Abe K - Search Results

1

"It's hard to wait": Provider Perspectives on Current Genomic Care in Safety-Net NICUs.

D'Gama AM, Wojcik MH, Hills S, Douglas J; VIGOR Network; Yu TW, Agrawal PB, Parker MG. D'Gama AM, et al. Genet Med. 2024 Jun 6:101177. doi: 10.1016/j.gim.2024.101177. Online ahead of print. Genet Med. 2024. PMID: 38855852

2

The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation.

Luo S, Rollins S, Schmitz-Abe K, Tam A, Li Q, Shi J, Lin J, Wang R, Agrawal PB. Luo S, et al. Among authors: schmitz abe k. Clin Chim Acta. 2024 Jun 7;561:119765. doi: 10.1016/j.cca.2024.119765. Online ahead of print. Clin Chim Acta. 2024. PMID: 38852790

3

Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex.

Li Q, Lin J, Luo S, Schmitz-Abe K, Agrawal R, Meng M, Moghadaszadeh B, Beggs AH, Liu X, Perrella MA, Agrawal PB. Li Q, et al. Among authors: schmitz abe k. J Cachexia Sarcopenia Muscle. 2024 Jun;15(3):1003-1015. doi: 10.1002/jcsm.13470. Epub 2024 May 9. J Cachexia Sarcopenia Muscle. 2024. PMID: 38725372 Free PMC article.

4

Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study.

D'Gama AM, Hills S, Douglas J, Young V, Genetti CA, Wojcik MH, Feldman HA, Yu TW, G Parker M, Agrawal PB; VIGOR Network. D'Gama AM, et al. BMJ Open. 2024 Feb 6;14(2):e080529. doi: 10.1136/bmjopen-2023-080529. BMJ Open. 2024. PMID: 38320840 Free PMC article.

5

High number of candidate gene variants are identified as disease-causing in a period of 4 years.

Hills S, Li Q, Madden JA, Genetti CA, Brownstein CA, Schmitz-Abe K, Beggs AH, Agrawal PB. Hills S, et al. Among authors: schmitz abe k. Am J Med Genet A. 2024 May;194(5):e63509. doi: 10.1002/ajmg.a.63509. Epub 2023 Dec 29. Am J Med Genet A. 2024. PMID: 38158391

6

Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.

Kasap N, Kara A, Celik V, Bilgic Eltan S, Akay Haci I, Kose H, Aygun A, Akkelle E, Yakici N, Guner SN, Reisli I, Keles S, Cekic S, Kilic SS, Karaca NE, Gulez N, Genel F, Ozen A, Yucelten AD, Karakoc-Aydiner E, Schmitz-Abe K, Baris S. Kasap N, et al. Among authors: schmitz abe k. J Clin Immunol. 2023 Nov;43(8):1882-1890. doi: 10.1007/s10875-023-01554-z. Epub 2023 Jul 29. J Clin Immunol. 2023. PMID: 37507632

7

Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex.

Li Q, Lin J, Luo S, Schmitz-Abe K, Agrawal R, Meng M, Moghadaszadeh B, Beggs AH, Liu X, Perrella MA, Agrawal PB. Li Q, et al. Among authors: schmitz abe k. bioRxiv [Preprint]. 2023 Apr 24:2023.04.24.538136. doi: 10.1101/2023.04.24.538136. bioRxiv. 2023. PMID: 37162921 Free PMC article. Updated. Preprint.

8

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations.

Flanagan FO, Holtz AM, Vargas SO, Genetti CA, Schmitz-Abe K, Casey A, Kennedy JC, Raby BA, Mullen MP, Fishman MP, Agrawal PB. Flanagan FO, et al. Among authors: schmitz abe k. NPJ Genom Med. 2023 Mar 6;8(1):7. doi: 10.1038/s41525-023-00350-3. NPJ Genom Med. 2023. PMID: 36878902 Free PMC article.

9

Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.

Baris S, Benamar M, Chen Q, Catak MC, Martínez-Blanco M, Wang M, Fong J, Massaad MJ, Sefer AP, Kara A, Babayeva R, Eltan SB, Yucelten AD, Bozkurtlar E, Cinel L, Karakoc-Aydiner E, Zheng Y, Wu H, Ozen A, Schmitz-Abe K, Chatila TA. Baris S, et al. Among authors: schmitz abe k. J Allergy Clin Immunol. 2023 Jul;152(1):182-194.e7. doi: 10.1016/j.jaci.2023.01.023. Epub 2023 Feb 8. J Allergy Clin Immunol. 2023. PMID: 36758835

10

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.

Li Q, Agrawal R, Schmitz-Abe K, Genetti CA, Fernandes MA, Fryou NL, Madden JA, Brownstein CA, Smith EC, Rajabi F, Beggs AH, Agrawal PB. Li Q, et al. Among authors: schmitz abe k. Eur J Hum Genet. 2023 Jun;31(6):712-715. doi: 10.1038/s41431-023-01291-2. Epub 2023 Jan 23. Eur J Hum Genet. 2023. PMID: 36690831 Free PMC article. Review.

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