Kurolap A - Search Results

1

Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.

Baris Feldman H, Chai Gadot C, Zahler D, Mory A, Aviram G, Elhanan E, Shefer G, Goldiner I, Amir Y, Kurolap A, Ablin JN. Baris Feldman H, et al. Among authors: kurolap a. N Engl J Med. 2023 Nov 2;389(18):1685-1692. doi: 10.1056/NEJMoa2301908. N Engl J Med. 2023. PMID: 37913506

2

Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders.

Kurolap A, Baris Feldman H. Kurolap A, et al. Hum Genet. 2023 May;142(5):595-597. doi: 10.1007/s00439-023-02566-w. Hum Genet. 2023. PMID: 37106128 No abstract available.

3

Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.

Ponger P, Kurolap A, Lerer I, Dagan J, Chai Gadot C, Mory A, Wilnai Y, Oniashvili N, Giladi N, Gurevich T, Meiner V, Lossos A, Baris Feldman H. Ponger P, et al. Among authors: kurolap a. J Mol Neurosci. 2022 Aug;72(8):1715-1723. doi: 10.1007/s12031-022-02035-5. Epub 2022 Jun 8. J Mol Neurosci. 2022. PMID: 35676594

4

A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.

Kurolap A, Barel D, Shaul Lotan N, Wexler I, Chai Gadot C, Mory A, Barel O, Almashanu S, Baris Feldman H. Kurolap A, et al. Mol Genet Metab. 2023 Nov;140(3):107702. doi: 10.1016/j.ymgme.2023.107702. Epub 2023 Sep 26. Mol Genet Metab. 2023. PMID: 37776842

5

CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a-) variant.

Kurolap A, Hagin D, Freund T, Fishman S, Zunz Henig N, Brazowski E, Yeshaya J, Naiman T, Pras E, Ablin JN, Baris Feldman H. Kurolap A, et al. Hum Genet. 2023 May;142(5):683-690. doi: 10.1007/s00439-021-02428-3. Epub 2022 Mar 21. Hum Genet. 2023. PMID: 35314883 Free PMC article.

6

Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.

Kurolap A, Mory A, Simchoni S, Krajden Haratz K, Malinger G, Birnbaum R, Baris Feldman H, Yaron Y. Kurolap A, et al. Prenat Diagn. 2022 Nov;42(12):1484-1487. doi: 10.1002/pd.6248. Epub 2022 Oct 21. Prenat Diagn. 2022. PMID: 36221156 Free PMC article.

7

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.

Einhorn Y, Einhorn M, Kurolap A, Steinberg D, Mory A, Bazak L, Paperna T, Grinshpun-Cohen J, Basel-Salmon L, Weiss K, Singer A, Yaron Y, Baris Feldman H. Einhorn Y, et al. Among authors: kurolap a. Hum Genomics. 2023 Mar 28;17(1):30. doi: 10.1186/s40246-023-00472-w. Hum Genomics. 2023. PMID: 36978159 Free PMC article.

8

SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.

Hourvitz N, Kurolap A, Mory A, Haratz KK, Kidron D, Malinger G, Baris Feldman H, Yaron Y. Hourvitz N, et al. Among authors: kurolap a. Prenat Diagn. 2023 Sep;43(10):1374-1377. doi: 10.1002/pd.6426. Epub 2023 Aug 28. Prenat Diagn. 2023. PMID: 37639281

9

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.

Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE; Regeneron Genetics Center; Overton JD, Shuldiner AR, Saada A, Mandel H, Baris Feldman H. Hershkovitz T, et al. Among authors: kurolap a. J Hum Genet. 2019 Jun;64(6):589-595. doi: 10.1038/s10038-019-0592-6. Epub 2019 Mar 22. J Hum Genet. 2019. PMID: 30903008

10

Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing.

Reytan S, Zunz Henig N, Yinon Y, Avnet H, Kurolap A, Yaron Y, Baris Feldman H. Reytan S, et al. Among authors: kurolap a. Prenat Diagn. 2022 Jun;42(7):890-893. doi: 10.1002/pd.6142. Epub 2022 Apr 11. Prenat Diagn. 2022. PMID: 35393661 No abstract available.

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