Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1963 1
1966 2
1977 1
1978 1
1980 1
1983 1
1987 2
1988 3
1989 4
1990 1
1991 2
1993 1
1994 1
1995 3
1996 6
1997 1
1998 4
2000 1
2015 1
2017 1
2018 6
2019 6
2020 13
2021 8
2022 11
2023 12
2024 4
2025 4

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

95 results

Results by year

Filters applied: . Clear all
Page 1
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: giacomini t. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: giacomini t. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study.
Gastaldi M, Foiadelli T, Greco G, Scaranzin S, Rigoni E, Masciocchi S, Ferrari S, Mancinelli C, Brambilla L, Mancardi M, Giacomini T, Ferraro D, Della Corte M, Gallo A, Di Filippo M, Benedetti L, Novi G, Versino M, Banfi P, Iorio R, Moiola L, Turco E, Sartori S, Nosadini M, Ruggieri M, Savasta S, Colombo E, Ballante E, Jarius S, Mariotto S, Franciotta D; NINA study group. Gastaldi M, et al. Among authors: giacomini t. J Neurol Neurosurg Psychiatry. 2023 Mar;94(3):201-210. doi: 10.1136/jnnp-2022-330237. Epub 2022 Dec 2. J Neurol Neurosurg Psychiatry. 2023. PMID: 36460438
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsmaa EK, Blanc P, Bruno LP, Callewaert B, Capra V, Carullo M, Chesneau B, Coppens S, Curry C, Dale B, Dahlen E, Delahaye-Duriez A, Denommé-Pichon AS, Demeer B, Dvořáková L, Fischer J, Geneviève D, Giacomini T, Handrup MM, Heron D, Hüning I, Iacomino M, Isidor B, Keren B, Kmoch S, Koolen DA, Kübler A, Laštůvková J, Le C, Levy J, Rizzo CL, Maitz S, Marlin S, Mignot C, Mirzaa G, Nagel I, Neuens S, Nosková L, Pao E, Pecková A, Plaisancie J, Porrmann J, Privitera F, Reis A, Renieri A, Rio M, Rippert A, Ryba L, Scala M, Schieving JH, Sherr EH, Shuen A, Sidlow R, Smol T, Soblet J, Striano P, Suri M, Syryn H, Tran Mau-Them F, Travessa AM, Van Gils J, Vasileiou G, Verseput JJA, Vilain C, Vincent-Delorme C, Vyhnálková E, Wakeling EL, Zacher P, Zara F, Kuentz P, Piard J. Engel C, et al. Among authors: giacomini t. Eur J Hum Genet. 2025 Aug;33(8):989-996. doi: 10.1038/s41431-025-01884-z. Epub 2025 Jun 25. Eur J Hum Genet. 2025. PMID: 40562808
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF. Scala M, et al. Among authors: giacomini t. Genet Med. 2024 Apr;26(4):101057. doi: 10.1016/j.gim.2023.101057. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158856 Free PMC article.
Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.
El Hachem M, Diociaiuti A, Galeotti A, Grussu F, Gusson E, Ferretti A, Marras CE, Vecchio D, Cappelletti S, Severino M, Gandolfo C, Reali S, Longo R, D'Amore C, Gariazzo L, Marraffa F, Ciofi Degli Atti ML, Mancardi MM; and the Sturge-Weber Syndrome Multidisciplinary Group. El Hachem M, et al. Orphanet J Rare Dis. 2025 Jan 16;20(1):28. doi: 10.1186/s13023-024-03527-w. Orphanet J Rare Dis. 2025. PMID: 39819452 Free PMC article.
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
Kerestes R, Perry A, Vivash L, O'Brien TJ, Alvim MKM, Arienzo D, Aventurato ÍK, Ballerini A, Baltazar GF, Bargalló N, Bender B, Brioschi R, Bürkle E, Caligiuri ME, Cendes F, de Tisi J, Duncan JS, Engel JP Jr, Foley S, Fortunato F, Gambardella A, Giacomini T, Guerrini R, Hall G, Hamandi K, Ives-Deliperi V, João RB, Keller SS, Kleiser B, Labate A, Lenge M, Marotta C, Martin P, Mascalchi M, Meletti S, Owens-Walton C, Parodi CB, Pascual-Diaz S, Powell D, Rao J, Rebsamen M, Reiter J, Riva A, Rüber T, Rummel C, Scheffler F, Severino M, Silva LS, Staba RJ, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tortora D, Vaudano AE, Weber B, Wiest R, Winston GP, Yasuda CL, Zheng H, McDonald CR, Sisodiya SM, Harding IH. Kerestes R, et al. Among authors: giacomini t. Epilepsia. 2024 Apr;65(4):1072-1091. doi: 10.1111/epi.17881. Epub 2024 Feb 27. Epilepsia. 2024. PMID: 38411286 Free PMC article.
Hyaline Protoplasmic Astrocytopathy in the Setting of Epilepsy.
Alzoubi H, Nobile G, d'Amati A, Nobili L, Giacomini T, Tortora D, Gaggero G, Gianno F, Giangaspero F, Antonelli M, Consales A. Alzoubi H, et al. Among authors: giacomini t. Am J Clin Pathol. 2023 Feb 1;159(2):120-128. doi: 10.1093/ajcp/aqac145. Am J Clin Pathol. 2023. PMID: 36495294 Review.
Effectiveness of perampanel as only concomitant antiseizure medication for highly active epilepsy: insight from a real-world, multicenter retrospective study.
Pascarella A, Pasquale M, Abelardo D, Gasparini S, Marsico O, Cutellè R, Cianci V, Iudice A, Bisulli F, Bonanni P, Caggia E, D'Aniello A, Di Bonaventura C, DiFrancesco JC, Domina E, Dono F, Gambardella A, Marini C, Marrelli A, Matricardi S, Morano A, Paladin F, Renna R, Piccioli M, Striano P, Ascoli M, La Neve A, Le Piane E, Orsini A, Torino C, Beretta S, Aguglia U, Ferlazzo E; PEROC Study Group. Pascarella A, et al. J Neurol. 2025 Jun 7;272(7):449. doi: 10.1007/s00415-025-13184-z. J Neurol. 2025. PMID: 40483297
95 results