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

Edit custom filters

Results by year

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

Year Number of Results
1984 1
1986 1
1987 1
1988 1
1989 5
1997 1
1998 1
1999 6
2000 4
2001 2
2002 6
2003 2
2004 4
2005 6
2006 5
2007 13
2008 12
2009 9
2010 16
2011 13
2012 7
2013 9
2014 15
2015 16
2016 15
2017 10
2018 13
2019 18
2020 20
2021 25
2022 26
2023 25
2024 22
2025 19
2026 14

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

333 results

Results by year

Filters applied: . Clear all
Page 1
Genes4Epilepsy: An epilepsy gene resource.
Oliver KL, Scheffer IE, Bennett MF, Grinton BE, Bahlo M, Berkovic SF. Oliver KL, et al. Among authors: bahlo m. Epilepsia. 2023 May;64(5):1368-1375. doi: 10.1111/epi.17547. Epub 2023 Mar 9. Epilepsia. 2023. PMID: 36808730 Free PMC article.
The E3-ome gene-centric compendium reveals the human E3 ligase landscape.
Chua NK, González-Robles TJ, Reddington CJ, Dudley-Fraser J, Birkinshaw RW, Han J, Solano A, Wong SW, Kochańczyk T, Peter JJ, Nakasone MA, Aust F, Munro J, Tong YH, Iskander J, Abeysekera W, Garnham A, Huckstep H, Ritchie ME, Wertz I, Hymowitz S, Kumar S, Conaway RC, Privé GG, Bullock AN, Babon JJ, Klevit RE, Lorenz S, Ciulli A, Fischer ES, Thomä NH, Nowak RP, Schulman BA, Rapé M, Rittinger K, Pagan JK, Bahlo M, Mackay JP, Mace PD, Lima CD, Hay RT, Komander D, Lechtenberg BC, Joazeiro CAP, Pagano M, Hofmann K, Feltham R. Chua NK, et al. Among authors: bahlo m. Cell. 2026 Apr 2;189(7):2167-2188.e27. doi: 10.1016/j.cell.2026.01.029. Epub 2026 Mar 20. Cell. 2026. PMID: 41864206 Free PMC article.
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: bahlo m. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2. Nat Commun. 2024. PMID: 39068203 Free PMC article.
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, Reddel SW, Roxburgh RH, Ryan MM, Sandaradura SA, Scott LW, Valkanas E, Weisburd B, Young H, Evesson FJ, Waddell LB, Cooper ST. Marchant RG, et al. Among authors: bahlo m. Ann Clin Transl Neurol. 2024 May;11(5):1250-1266. doi: 10.1002/acn3.52041. Epub 2024 Mar 27. Ann Clin Transl Neurol. 2024. PMID: 38544359 Free PMC article.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: bahlo m. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Hirsutism.
Willenberg HS, Bahlo M, Scherbaum WA. Willenberg HS, et al. Among authors: bahlo m. N Engl J Med. 2006 Apr 6;354(14):1533-5; author reply 1533-5. doi: 10.1056/NEJMc060027. N Engl J Med. 2006. PMID: 16598055 No abstract available.
The Genetics of Epilepsy.
Perucca P, Bahlo M, Berkovic SF. Perucca P, et al. Among authors: bahlo m. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:205-230. doi: 10.1146/annurev-genom-120219-074937. Epub 2020 Apr 27. Annu Rev Genomics Hum Genet. 2020. PMID: 32339036 Review.
HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement.
Farashi S, Abbott CJ, Ansell BRE, Wu Z, Altay L, Arnon E, Arnould L, Bagdasarova Y, Balaskas K, Chen FK, Chew E, Chowers I, Clarke S, Cukras C, Delcourt C, Delyfer MN, den Hollander AI, Fauser S, Finger RP, Gabrielle PH, Han J, Hodgson LAB, Hogg R, Holz FG, Hoyng C, Kumar H, Lad EM, Lee A, Luhmann UFO, Mauschitz MM, McKnight AJ, McLenachan S, Mishra A, Moghul I, Orozco LD, Sampson DM, Scott LW, Sitnilska V, Song S, Stockwell A, Swaroop A, Terheyden JH, Tiosano L, Tufail A, Yaspan BL; MACUSTAR consortium; NICOLA consortium; Pébay A, Fletcher EL, Guymer RH, Bahlo M; Reticular Pseudodrusen Consortium. Farashi S, et al. Among authors: bahlo m. Nat Commun. 2025 Dec 8;16(1):10854. doi: 10.1038/s41467-025-65903-9. Nat Commun. 2025. PMID: 41361163 Free PMC article.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: bahlo m. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame DG, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga DM, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillmann RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Banks E, et al. Among authors: bahlo m. Nat Commun. 2024 Aug 22;15(1):7239. doi: 10.1038/s41467-024-51310-z. Nat Commun. 2024. PMID: 39174524 Free PMC article.
333 results