Benthal JT, Avila JA, Smith JR, Southard-Smith EM. Combinatorial multiomic analysis from a pedigree of Sox10Dom Hirschsprung mice identifies multiple high confidence candidate modifiers of Enteric Nervous System development. PLoS Comput Biol. 2026 Jul; 22(7):e1014424.

Watts LM, Chang MSM, Lewis-Orr E, Walton IS, Leinhos L, Tooze RS, Pei Y, Calpena E, Vedovato-Dos-Santos JH, Steel D, Reid KM, Kurian MA, Mohammad SS, Cantagrel V, Siquier K, Boddaert N, Rio M, Blyth M, Kraus A, Al Mutairi F, Holder SE, Clowes VE, Cobben JM, Timberlake AT, Elias ER, Stewart H, Johnson D, Cohen JS, Barañano KW, Ceulemans S, Jones MC, Ortega Rico RI, Haug MG, Berland S, Bombei HM, Paulson A, Sidhu A, Gooch CF, da Rocha KM, Passos Bueno MR, Topa A, Muslimovic AZ, Maltese G, Tan TY, McCann E, Lord H, Chin HL, Lin J, Li-Meng Goh D, Keren B, Charles P, Delchev T, Avdjieva-Tzavella D, Alawbathani S, Almeida L, Kdissa A, Al-Ali R, Bertoli-Avella AM, Johnson D, Wilkie AOM, Arkell RM, Shears DJ, Twigg SRF. Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis. Genet Med. 2026 Jun; 28(6):102585.

Magrinelli F, Tesson C, Angelova PR, Rodriguez JA, Scardamaglia A, O'Callaghan B, Lowe SA, Salazar-Villacorta A, Chung BH, Jaconelli M, Vona B, Esteras N, Mammana A, Shimazu J, Kwong AK, Courtin T, Alavi S, Maroofian R, Nirujogi R, Severino M, Monfrini E, Rocca C, Lewis PA, Efthymiou S, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Baiardi S, Volin M, Cassar M, Hassan BA, Iftikhar S, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanagasi HA, Bilgiç B, Cavallieri F, Santangelo M, Obeso JA, Kurtis MM, Cogan G, Kiziltan G, Gül-Demirkale T, Tireli H, Yüksel GA, Yalçin-Cakmakli G, Elibol B, Bari?ic N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Alvi JR, Sultan T, Alkhawaja IA, Froukh T, Alrukban HAE, Anjum MN, Saeed A, Cheema HA, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Di Fonzo A, Bonifati V, Haack TB, Bertoli-Avella AM, Lesage S, Basak AN, Steinfeld R, Parchi P, Jepson JEC, Alessi DR, Brice A, Steller H, Abramov AY, Bhatia KP, Houlden H. Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality. Nat Commun. 2026 Apr 15; 17(1).

Slater BA, Seymour S, Burt E, Kierstein J, Larson AA, Taylor MRG. Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia. Clin Genet. 2026 06; 109(6):1049-1054.

Mirzaa GM, Yan K, Relator R, Levesque M, Jayasinghe P, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan KG, Guillen Sacoto MJ, Dobyns WB, Park KL, Fernández-Mayoralas DM, Fernández-Jaén A, Jayakar P, Palomares-Bralo M, Santos-Simarro F, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, ?terbová K, Smal N, Weckhuysen S, Oegema R, Innes AM, Koboldt DC, Ben-Omran T, Yeh RC, Kruer MC, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci SA, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald KA, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B, Picketts DJ. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. Nat Commun. 2025 Nov 10; 16(1):9875.

Doss RM, Wirth SA, Pitsch JW, Dias CM, Gropman AL, Breuss MW. Exon-skipping due to bi-allelic splice site mutations in the neurodevelopmental disease gene LNPK. HGG Adv. 2026 Jan 15; 7(1):100543.

Williams CM, Scelza BA, Slack SD, Font-Porterias N, Al-Hindi DR, Mathias RA, Watson H, Barnes KC, Lange E, Johnson RK, Gignoux CR, Ramachandran S, Henn BM. A rapid accurate approach to inferring pedigrees in endogamous populations. Genetics. 2025 08 06; 230(4).

Kronenberg Z, Nolan C, Porubsky D, Mokveld T, Rowell WJ, Lee S, Dolzhenko E, Chang PC, Holt JM, Saunders CT, Olson ND, Steely CJ, McGee S, Guarracino A, Koundinya N, Harvey WT, Watkins WS, Munson KM, Hoekzema K, Chua KP, Chen X, Fanslow C, Lambert C, Dashnow H, Garrison E, Smith JD, Lansdorp PM, Zook JM, Carroll A, Jorde LB, Neklason DW, Quinlan AR, Eichler EE, Eberle MA. The Platinum Pedigree: a long-read benchmark for genetic variants. Nat Methods. 2025 Aug; 22(8):1669-1676.

Porubsky D, Dashnow H, Sasani TA, Logsdon GA, Hallast P, Noyes MD, Kronenberg ZN, Mokveld T, Koundinya N, Nolan C, Steely CJ, Guarracino A, Dolzhenko E, Harvey WT, Rowell WJ, Grigorev K, Nicholas TJ, Goldberg ME, Oshima KK, Lin J, Ebert P, Watkins WS, Leung TY, Hanlon VCT, McGee S, Pedersen BS, Happ HC, Jeong H, Munson KM, Hoekzema K, Chan DD, Wang Y, Knuth J, Garcia GH, Fanslow C, Lambert C, Lee C, Smith JD, Levy S, Mason CE, Garrison E, Lansdorp PM, Neklason DW, Jorde LB, Quinlan AR, Eberle MA, Eichler EE. Human de novo mutation rates from a four-generation pedigree reference. Nature. 2025 07; 643(8071):427-436.

Merz LM, Kolvenbach CM, Wang C, Mertens ND, Seltzsam S, Mansour B, Zheng B, Schneider S, Schierbaum L, Hölzel S, Salmanullah D, Pantel D, Kalkar G, Connaughton DM, Mann N, Wu CW, Kause F, Nakayama M, Dai R, Schneider R, Buerger F, Nicolas-Frank C, Yousef K, Lemberg K, Saida K, Yu S, Elmubarak I, Franken GAC, Lomjansook K, Braun A, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Awad HS, Eid LA, El Desoky S, Shalaby MA, Kari JA, Ooda S, Fathy HM, Soliman NA, Nabhan M, Abdelrahman S, Hilger AC, Mane SM, Ferguson MA, Tasic V, Shril S, Hildebrandt F. Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families. Genet Med. 2025 Jul; 27(7):101432.