Fleischer N - Search Results

1

Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication.

Pascolini G, Agolini E, Fleischer N, Pierantoni R, Loddo S, Novelli A, Bernardini L, Majore S, Grammatico P. Pascolini G, et al. Among authors: fleischer n. Neurol Sci. 2020 Dec;41(12):3751-3753. doi: 10.1007/s10072-020-04510-6. Epub 2020 Jun 11. Neurol Sci. 2020. PMID: 32529320 No abstract available.

2

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.

Pascolini G, Agolini E, Fleischer N, Gulotta E, Cesario C, D'Elia G, Novelli A, Majore S, Grammatico P. Pascolini G, et al. Among authors: fleischer n. Am J Med Genet A. 2020 Jul;182(7):1791-1795. doi: 10.1002/ajmg.a.61605. Epub 2020 May 2. Am J Med Genet A. 2020. PMID: 32359026

3

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers.

Pascolini G, Fleischer N, Ferraris A, Majore S, Grammatico P. Pascolini G, et al. Among authors: fleischer n. J Hum Genet. 2019 Aug;64(8):721-728. doi: 10.1038/s10038-019-0598-0. Epub 2019 May 13. J Hum Genet. 2019. PMID: 31086247

4

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.

Pascolini G, Valiante M, Bottillo I, Laino L, Fleischer N, Ferraris A, Grammatico P. Pascolini G, et al. Among authors: fleischer n. Eur J Med Genet. 2020 Mar;63(3):103739. doi: 10.1016/j.ejmg.2019.103739. Epub 2019 Aug 14. Eur J Med Genet. 2020. PMID: 31421289

5

Answer to Letter to the Editor regarding the article "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion".

Pascolini G, Valiante M, Bottillo I, Laino L, Fleischer N, Ferraris A, Grammatico P. Pascolini G, et al. Among authors: fleischer n. Eur J Med Genet. 2020 Oct;63(10):103993. doi: 10.1016/j.ejmg.2020.103993. Epub 2020 Jun 20. Eur J Med Genet. 2020. PMID: 32574611 No abstract available.

6

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.

Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RV. Zarate YA, et al. Among authors: fleischer n. Clin Genet. 2021 Apr;99(4):547-557. doi: 10.1111/cge.13912. Epub 2021 Jan 13. Clin Genet. 2021. PMID: 33381861 Free article. Review.

7

Next-generation phenotyping in cat-eye syndrome based on computer-aided facial dysmorphology analysis of normal photographs.

Liehr T, Fleischer N, Al-Rikabi A. Liehr T, et al. Among authors: fleischer n. Mol Genet Genomic Med. 2021 Oct;9(10):e1785. doi: 10.1002/mgg3.1785. Epub 2021 Aug 25. Mol Genet Genomic Med. 2021. PMID: 34432367 Free PMC article.

8

Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.

Mak BC, Sanchez Russo R, Gambello MJ, Fleischer N, Black ED, Leslie E, Murphy MM; Emory 3q29 Project; Mulle JG. Mak BC, et al. Among authors: fleischer n. Am J Med Genet A. 2021 Jul;185(7):2094-2101. doi: 10.1002/ajmg.a.62227. Epub 2021 May 3. Am J Med Genet A. 2021. PMID: 33938623 Free PMC article.

9

Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.

Daykin E, Fleischer N, Abdelwahab M, Hassib N, Schiffmann R, Ryan E, Sidransky E. Daykin E, et al. Among authors: fleischer n. Mol Genet Metab. 2021 Nov;134(3):274-280. doi: 10.1016/j.ymgme.2021.09.008. Epub 2021 Oct 5. Mol Genet Metab. 2021. PMID: 34663554

10

Identifying facial phenotypes of genetic disorders using deep learning.

Gurovich Y, Hanani Y, Bar O, Nadav G, Fleischer N, Gelbman D, Basel-Salmon L, Krawitz PM, Kamphausen SB, Zenker M, Bird LM, Gripp KW. Gurovich Y, et al. Among authors: fleischer n. Nat Med. 2019 Jan;25(1):60-64. doi: 10.1038/s41591-018-0279-0. Epub 2019 Jan 7. Nat Med. 2019. PMID: 30617323

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