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584 results

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Page 1
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
Müller F, Neuser S, Shrestha G, Neupane NP, Götze KJ, Brunetti-Pierri N, Terrone G, Reymond A, van Gassen KL, Brilstra E, Steindl K, Begemann A, Rauch A, Rips J, Fahham D, Barakat TS, Patat O, Mortreux J, Chau MHK, Rosenfeld JA, Mizerik E, Srivastava S, Luo X, Dahse AK, Scholz N, Das J, Roman G, Langenhan T, Abou Jamra R, Mrestani A, Ljaschenko D. Müller F, et al. Among authors: rosenfeld ja. Biochem Biophys Rep. 2025 Nov 28;45:102375. doi: 10.1016/j.bbrep.2025.102375. eCollection 2026 Mar. Biochem Biophys Rep. 2025. PMID: 41399760 Free PMC article.
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium; Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. Loviglio MN, et al. Among authors: rosenfeld ja. Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31. Mol Psychiatry. 2017. PMID: 27240531 Free PMC article.
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association.
Keehan LA, Ono-Minagi H, Hadhud M, Rips J, Hinds DM, Fischer AJ, Bartlett JA, McCray PB Jr, Qawasmi N, Nathan N, Louvrier C, Desroziers T, Damme M, Griese M, Wegner DJ, Cole FS, Wambach JA, Wheeler MT, Burbelo PD, Bonner DE; Undiagnosed Diseases Network; Bernstein JA, Chiorini JA, Breuer O, Milla C. Keehan LA, et al. Genet Med. 2026 Feb 3:102531. doi: 10.1016/j.gim.2026.102531. Online ahead of print. Genet Med. 2026. PMID: 41653023
Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.
Lemke JR, Eoli A, Krey I, Popp B, Strehlow V, Wittekind DA, Vuorinen AL, Aldhalaan HM, Baer S, de Saint Martin A, Hammer TB, Herman I, Hornemann F, Ingebrigtsen T, Lederer D, Lesca G, Marafie D, Mathot M, Rosenfeld JA, Møller RS, Schelhaas HJ, Stillman C, Orsini A, Patel AD, Piard J, Veggiotti P, Vlaskamp DRM, Weckhuysen S, Traynelis SF, Benke TA, Heyne HO, Syrbe S. Lemke JR, et al. Among authors: rosenfeld ja. Mol Psychiatry. 2026 Feb;31(2):1204. doi: 10.1038/s41380-025-03442-x. Mol Psychiatry. 2026. PMID: 41501486 Free PMC article. No abstract available.
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.
Furuta Y, Ezell KM, Hamid R, Cogan JD, Cassini TA, Rives L, McMinn A, Shah S, Peltier AC, Layfield S, Fletcher RS, Tedder ML, Louie RJ, Lee JA, Kerkhof J, Rzasa J, Sadikovic B, Al Mamun A, Sheehan JH, Moth CW, Meiler J, Vawter-Lee M, Mendoza-Sengco PM, Holzen JB, Pruthi S, Phillips JA 3rd, Tinker RJ; Undiagnosed Diseases Network. Furuta Y, et al. Mol Genet Genomic Med. 2025 Dec;13(12):e70165. doi: 10.1002/mgg3.70165. Mol Genet Genomic Med. 2025. PMID: 41407309 Free PMC article.
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden GM, Bosc-Rosati A, Hsieh TC, Bray L, Oloudé M, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel FG, Wolfgramm S, Florenceau L, Cuinat S, Marsac S, Verrès Y, Dangoumau A, Poirier L, Wentzensen IM, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter MS, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson LC, Costin C, Abdulrazak A, Jobling RK, Pappas J, Rabin R, Niyazov D, Chun-Hui Tsai A, Kovak K, Beck DB, Malicdan MCV, Adams DR, Wolfe L, Ganetzky RD, Muraresku CC, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Saif HA, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton MJ, Bryson LJ, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, L… See abstract for full author list ➔ Küry S, et al. Among authors: rosenfeld ja. Nat Commun. 2025 Nov 26;16(1):10545. doi: 10.1038/s41467-025-65556-8. Nat Commun. 2025. PMID: 41298377 Free PMC article.
Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology.
Altay MF, Gregor A, Braun D, Rieubland C, Gautschi M, Perret Hoigné E, Schiller R, Keren B, Afenjar A; Undiagnosed Diseases Network; Martinez-Agosto JA, Rosenfeld JA, Zweier C. Altay MF, et al. Among authors: rosenfeld ja. Eur J Hum Genet. 2026 Feb;34(2):201-208. doi: 10.1038/s41431-025-01966-y. Epub 2025 Oct 27. Eur J Hum Genet. 2026. PMID: 41145827 Free PMC article.
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.
Wang Y, Sams EI, Slaugh R, Crocker S, Hurtado EC, Tracy S, Hou YC, Markovic C, Valle K, Tate V, Belhassan K, Appelbaum E, Akinwe T, Starosta RT, Cao Y, Neilson A, Liu Y, Jensen N, Ghasemi R, Lindsay T, Manuel J, Couteranis S, Kremitzki M, Ustanik J, Antonacci T, Ng JK, Emory A, Metz L, DeLuca T, Lyons KN, Sinnwell T, Thomeczek B, Wang K, Sisneros N, Muraleedharan M, Kethireddy A, Corbo M, Gowda H, King KA, Gurnett CA, Dutcher SK, Gooch C, Li YE, Mitchell MW, Peterson KA, Horani A, Rosenfeld JA, Bi W, Stankiewicz P, Chao HT, Posey JE, Grochowski CM, Dardas Z, Puffenberger EG, Pearson CE, Kooy F, Annear D, Innes AM, Heinz M, Head R, Fulton R, Toutain S; 9P-ARCH; Antonacci-Fulton L, Cui X, Mitra RD, Cole FS, Neidich J, Dickson PI, Milbrandt J, Turner TN. Wang Y, et al. Among authors: rosenfeld ja. Genome Med. 2025 Oct 24;17(1):129. doi: 10.1186/s13073-025-01563-0. Genome Med. 2025. PMID: 41137173 Free PMC article.
584 results