Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2018 2
2019 8
2020 8
Text availability
Article attribute
Article type
Publication date

Search Results

16 results
Results by year
Filters applied: . Clear all
Page 1
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
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M. Carli D, et al. Among authors: Fleischer N. Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18. Hum Mutat. 2019. PMID: 30825388
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM. Knaus A, et al. Among authors: Fleischer N. Genome Med. 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5. Genome Med. 2018. PMID: 29310717 Free PMC article.
Turner syndrome in diverse populations.
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Kruszka P, et al. Among authors: Fleischer N. Am J Med Genet A. 2020 Feb;182(2):303-313. doi: 10.1002/ajmg.a.61461. Epub 2019 Dec 19. Am J Med Genet A. 2020. PMID: 31854143
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.
Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, Fleischer N, Kamphans T, Mundlos S, Gurovich Y, Krawitz PM. Pantel JT, et al. Among authors: Fleischer N. J Inherit Metab Dis. 2018 May;41(3):533-539. doi: 10.1007/s10545-018-0174-3. Epub 2018 Apr 5. J Inherit Metab Dis. 2018. PMID: 29623569 Free PMC article.
Phenotype delineation of ZNF462 related syndrome.
Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Kruszka P, et al. Among authors: Fleischer N. Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361404 Free PMC article.
PEDIA: prioritization of exome data by image analysis.
Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM. Hsieh TC, et al. Among authors: Fleischer N. Genet Med. 2019 Dec;21(12):2807-2814. doi: 10.1038/s41436-019-0566-2. Epub 2019 Jun 5. Genet Med. 2019. PMID: 31164752 Free PMC article.
16 results
Jump to page
Feedback