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

Year Number of Results
1972 1
1975 1
1976 3
1977 1
1981 1
1983 1
1984 1
1985 1
1986 1
1992 1
1994 1
1996 1
1999 1
2000 1
2001 3
2002 5
2003 2
2005 1
2006 6
2007 1
2008 4
2009 7
2010 13
2011 13
2012 9
2013 6
2014 4
2015 5
2016 9
2017 12
2018 4
2019 5
2020 13
2021 8
2022 15
2023 10
2024 12

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166 results

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Page 1
Trisomy 13.
Pereira EM. Pereira EM. Pediatr Rev. 2023 Jan 1;44(1):53-54. doi: 10.1542/pir.2022-005517. Pediatr Rev. 2023. PMID: 36587017 No abstract available.
Trisomy 21.
Pereira EM. Pereira EM. Pediatr Rev. 2024 Feb 1;45(2):116-117. doi: 10.1542/pir.2022-005887. Pediatr Rev. 2024. PMID: 38296776 No abstract available.
Gene Therapy Update.
Pereira EM. Pereira EM. Pediatr Rev. 2022 Sep 1;43(9):536-537. doi: 10.1542/pir.2021-005091. Pediatr Rev. 2022. PMID: 36045154 No abstract available.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Bosch E, et al. Among authors: pereira em. Genet Med. 2023 Nov;25(11):100950. doi: 10.1016/j.gim.2023.100950. Epub 2023 Aug 5. Genet Med. 2023. PMID: 37551667 Free article.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Among authors: pereira em. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
Artificial intelligence for diagnosis and Gleason grading of prostate cancer: the PANDA challenge.
Bulten W, Kartasalo K, Chen PC, Ström P, Pinckaers H, Nagpal K, Cai Y, Steiner DF, van Boven H, Vink R, Hulsbergen-van de Kaa C, van der Laak J, Amin MB, Evans AJ, van der Kwast T, Allan R, Humphrey PA, Grönberg H, Samaratunga H, Delahunt B, Tsuzuki T, Häkkinen T, Egevad L, Demkin M, Dane S, Tan F, Valkonen M, Corrado GS, Peng L, Mermel CH, Ruusuvuori P, Litjens G, Eklund M; PANDA challenge consortium. Bulten W, et al. Nat Med. 2022 Jan;28(1):154-163. doi: 10.1038/s41591-021-01620-2. Epub 2022 Jan 13. Nat Med. 2022. PMID: 35027755 Free PMC article.
Fetal Alcohol Spectrum Disorders.
Pereira EM. Pereira EM. Pediatr Rev. 2024 May 1;45(5):303-304. doi: 10.1542/pir.2023-006038. Pediatr Rev. 2024. PMID: 38689104 No abstract available.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Küry S, et al. Among authors: pereira em. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35678782 Free article.
Expanding the phenotype of ATP6AP1 deficiency.
Barua S, Berger S, Pereira EM, Jobanputra V. Barua S, et al. Among authors: pereira em. Cold Spring Harb Mol Case Stud. 2022 Jun 22;8(4):a006195. doi: 10.1101/mcs.a006195. Print 2022 Jun. Cold Spring Harb Mol Case Stud. 2022. PMID: 35732497 Free PMC article.
166 results