My Bibliography

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Briggs FBS, Montini F, Spurlock CF 3rd, Ryan C, Cooke Bailey JN, Trapl ES, Shaginurova GI, Wylezinski LS, Sesler CL, Esfahani MF, Sagen J, Gardener HE, McCauley JL, Caban-Martinez AJ, Brambilla R, Amezcua L, Tobin WO. Associations between perfluoroalkyl substances and multiple sclerosis in U.S. cohorts compared with NMOSD, MOGAD, and healthy controls. Environ Res. 2026 Aug 15;303(Pt 1):124763. doi: 10.1016/j.envres.2026.124763. Epub 2026 May 15. PubMed PMID: 42142568; PubMed Central PMCID: PMC13235680.

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Orlando C, Narasimhan S, Martinez A, Mata F, Reasbeck S, Manrique CP, Cardenas-Iniguez C, Vicente I, Chinea A, McCauley JL, Islam T, Amezcua L. Alliance for research in hispanic multiple sclerosis registry as a facilitator to clinical research participation. Mult Scler Relat Disord. 2026 Jun;110:107188. doi: 10.1016/j.msard.2026.107188. Epub 2026 Apr 6. PubMed PMID: 41996843.

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Ray NR, Kurup J, Kumar A, Rajabli F, Wang L, Xu W, Jin F, Yilmaz E, Kizil C, Bertholim-Nasciben L, Moura S, Ramirez AM, Baiyewu O, Griswold AJ, Coker M, Scott KM, Akinwande K, Adams LD, Diala S, Whitehead PG, McCauley JL, Ogunronbi M, Hamilton-Nelson KL, Damasceno A, Zaman AF, Blanton SH, Akpalu A, Cuccaro ML, Wahab K, McInerney KF, Nuytemans K, Obiako R, Mena PR, Okubadejo N, Martinez IM, Zewde YZ, Gugssa SA, Sarfo FS, Kalaria R, Ndetei DM, Williams SM, Caban-Holt A, ADGC, AfDC, Tosto G, Haines JL, Akinyemi RO, Ogunniyi A, Byrd GS, Bush WS, Kunkle BW, Vance JM, Pericak-Vance MA, Reitz C. Genetic correlation analysis of Alzheimer's disease and stroke implicates PHLPP1 as a shared locus in individuals of African ancestry. Alzheimers Dement. 2026 Apr;22(4):e71433. doi: 10.1002/alz.71433. PubMed PMID: 42043782; PubMed Central PMCID: PMC13116102.

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Jacobs BM, Schalk L, Tregaskis-Daniels E, Scalfari A, Nandoskar A, Dunne A, Gran B, Mein CA, Sellers C, Spilker CE, Rog DJ, Visentin E, Bezzina EL, Uzochukwu E, Tallantyre EC, Wozniak E, Sacre E, Hassan-Smith G, Ford HL, Harris J, Bradley J, Breedon J, Brooke J, Kreft KL, George K, Papachatzaki MM, O'Malley M, Peter M, Mattoscio M, Azzopardi L, Oliveira R, Rhule N, Evangelou N, Vinod N, Quinn O, Ali F, Shamji R, Kaimal R, Boulton R, Tanveer R, Tuite-Dalton K, Middleton RM, Murray R, Bellfield R, Hoque S, Patel S, Raj S, Gumus S, Mitchell S, Sawcer SJ, Arun T, Pogreban T, Brown TL, Begum T, Antoine V, Rashid W, Fawehinmi G, Reidy C, Begum S, Bernard Healey SA, Cummins H, Westwood K, Spencer D, Farooq S, Harding KE, Williams S, Radford G, White S, Alldred-Douglas N, Fernandes L, Harroud A, McCauley JL, Beecham A, Vince N, Dos Santos Brito Silva N, Morris HR, Silber E, Giovannoni G, Noyce AJ, Dobson R. Genetic Determinants of Multiple Sclerosis Susceptibility in People From Diverse Ancestral Backgrounds. Neurology. 2026 Apr 14;106(7):e214708. doi: 10.1212/WNL.0000000000214708. Epub 2026 Mar 6. PubMed PMID: 41791023.

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Hupalo D, McCauley JL, Gomez L, Griswold AJ, Hoher G, Konidari I, Lorenzo J, Parker GS, Pascual J, Sandford AR, Whitehead PL, Davis DA, Garamszegi S, Gultekin SH, Sun X, Vontell RT, Chatigny M, Chernicky D, Constant MM, Darling IG, Ennulat DJ, Esposito JM, Morris K, Lawton ES, Morakabati NR, Oduor P, Rodgers AP, Sang LA, Sullivan KM, Tabit CJ, Turpin T, Zeabi A, Zheng T, Berretta S, Klengel T, Ruzicka WB, Oakley DH, Blanchard T, Ho E, Johnson R, LeFevre A, Bustamante M, Haroutunian V, Marino C, Purohit DP, Wysocki M, Glausier JR, Lewis DA, Nagra RM, Alba C, Martin J, Rice E, Rosenberger J, Smith G, Sukumar G, Tompkins M, Wilkerson MD, Dalgard CL, Scott WK. The NeuroBioBank whole-genome catalogue of human brain donors with central nervous system disorders. Brain. 2026 Feb 16;. doi: 10.1093/brain/awag057. [Epub ahead of print] PubMed PMID: 41697960.

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Beecham AH, McGovern DPB, Brugger SW, Davis MF, Torres EA, Gomez L, Li D, Lopez-Marte P, Daly MJ, Stevens C, Yang S, Sinha S, Mengesha E, Leavitt J, Damas OM, Quintero MA, Targan SR, Rabizadeh S, Sabic K, NIDDK IBD Genetics Consortium, Cho JH, Abreu MT, McCauley JL, Haritunians T. Genomic Insights Into Inflammatory Bowel Disease in United States Hispanic Participants: An Ancestry-Focused Study. Gastroenterology. 2026 May;170(5):953-970. doi: 10.1053/j.gastro.2025.11.007. Epub 2026 Feb 9. PubMed PMID: 41661118; PubMed Central PMCID: PMC13140159.

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Yu M, Zhang Q, Yuan K, Sazonovs A, Stevens CR, Fachal L, International Inflammatory Bowel Disease Genetics Consortium Sequencing Group,, Lamb CA, Anderson CA, Daly MJ, Huang H. Cystic fibrosis risk variants confer protection against inflammatory bowel disease. Cell Genom. 2026 Feb 11;6(2):101071. doi: 10.1016/j.xgen.2025.101071. Epub 2025 Dec 1. PubMed PMID: 41330381; PubMed Central PMCID: PMC12903406.

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Gettler K, Nagpal S, Washburn S, Tastad C, Zhang J, Sabic K, Lazarev M, Bitton A, Cohen R, Schwartz MB, Barrie A, Gu P, Fleshner P, Bao M, Hernández-Rocha C, McCauley J, Abreu M, Kugathasan S, McGovern DP, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Gibson G, Cho JH. Postoperative Ileum Transcriptomics Implicate Sex-Biased Mechanisms in Crohn's Disease Recurrence. Gastroenterology. 2026 Mar;170(3):511-522. doi: 10.1053/j.gastro.2025.08.038. Epub 2025 Nov 18. PubMed PMID: 41251630; PubMed Central PMCID: PMC12812310.

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Gudmundsson S, Singer-Berk M, Stenton SL, Goodrich JK, Wilson MW, Einson J, Watts NA, Genome Aggregation Database Consortium, Lappalainen T, Rehm HL, MacArthur DG, O'Donnell-Luria A. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. Nat Commun. 2025 Oct 31;16(1):9623. doi: 10.1038/s41467-025-61698-x. PubMed PMID: 41173899; PubMed Central PMCID: PMC12579199.

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Wu G, Chen W, Wuu J, Jain A, Myers J, Cordts I, Rampersaud E, Heckmann JM, Nel M, Granit V, Statland J, Swenson A, Ravits J, McMillan CT, Elman L, Caress J, Burns TM, Pioro EP, Trivedi J, Katz J, Jackson C, Maiser S, Walk D, So Y, McCauley JL, Baker MC, Taylor JP, Zuchner S, Rademakers R, van Blitterswijk M, Benatar M. Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases. Transl Neurodegener. 2025 Oct 29;14(1):54. doi: 10.1186/s40035-025-00516-2. PubMed PMID: 41152957; PubMed Central PMCID: PMC12570777.

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Porras LM, Rodríguez-Lausell I, Iglesias-Maldonado G, Tuliao EVF, Martínez G, Leveque C, Tobon J, Eloy R, Belangero S, Bulik CM, Loureiro CM, Carvalho CM, Ota V, Rovaris DL, Storch EA, Vacuan EMT, Velasquez MM, Latin American Genomics Consortium, Santoro ML, Nicolini H, Atkinson EG, Montalvo-Ortiz JL, Giusti-Rodríguez P. Functional Genomics Studies of Psychiatric Disorders in Individuals of Latin American Populations: A Scoping Review. Am J Med Genet B Neuropsychiatr Genet. 2026 Jun;201(4):227-245. doi: 10.1002/ajmg.b.33063. Epub 2025 Sep 27. Review. PubMed PMID: 41014243; PubMed Central PMCID: PMC12917904.

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Olowoyo P, Asowata OJ, Akpa O, Comeau ME, Anderson CD, McCauley JL, Akinyemi J, Komolafe M, Akpalu A, Arulogun O, Sarfo F, Obiako R, Osaigbovo G, Fakunle A, Macaulay O, Adebajo O, Ogbole G, Okekunle AP, Singh A, Chukwuonye I, Olalusi O, Owolabi A, Agunloye A, Mensah Y, Jenkins C, Ogunronbi M, Adeleye O, Uvere E, Wahab K, Ibinaiye P, Ogah O, Appiah L, Fawale MB, Diala S, Tiwari H, Akinyemi R, Arnett DK, Langefeld CD, Ovbiagele B, Woo D, Owolabi M. Influence of Ancestral and Geographic Factors on Intracerebral Hemorrhage Risks Among Africans and Americans. Stroke. 2025 Dec;56(12):3404-3413. doi: 10.1161/STROKEAHA.125.051911. Epub 2025 Sep 24. PubMed PMID: 40988609; PubMed Central PMCID: PMC12514358.

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Bak MTJ, Boland K, Nayeri S, Borowksi K, Olivera PA, Hernandez-Rocha C, Turpin W, Stempak JM, Brant SR, Cho JH, Duerr RH, Haritunians T, Lazarev MG, Mengesha E, McGovern DPB, Rioux JD, Schumm LP, Lee SH, Silverberg MS, NIDDK Inflammatory Bowel Disease Genetics Consortium. Micronutrients are associated with endoscopic postoperative recurrence in Crohn's disease: a multicenter prospective cohort study in North america. J Crohns Colitis. 2025 Aug 20;. doi: 10.1093/ecco-jcc/jjaf148. [Epub ahead of print] PubMed PMID: 40833017.

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Akinwande KS, Whitehead P, Diala S, Coker M, Adams LD, Ogunronbi M, Balogun O, Boateng R, Kudzi W, Falayi A, Nyamai PK, Novela CF, Kelemu T, Abdulraheem JY, Adeleye O, Anyanwu RA, Ankamah J, Emmanuel BO, Imoh LC, Doku-Agama WA, Kumburu H, Kamulegeya R, Ige KB, Famuyiwa OO, Ogunde G, Ejimkonye FC, Akinyemi J, Cuccaro M, Mena P, Ogbole G, Elugbadebo O, Farombi T, Nichols M, Adeniyi S, Uthman M, Musyimi C, Mutiso V, Wahab K, Osaigbovo G, Nwazor E, Osemwegie N, Nwani P, Ogundele AT, Olowoyo P, Iwuozo EU, Mlaki DA, Obiako R, Sarfo F, Akpalu A, Adoukonou T, Ayele BA, Zenebe Y, Lwere K, Damasceno A, Njamnshi AK, Boshe J, Paddick SM, Seshadri S, McCauley J, Walker R, Arulogun O, Okubadejo N, Baiyewu O, Byrd G, Owolabi M, Ndetei D, Kunkle BW, Griswold AJ, Kalaria RN, Vance J, Ogunniyi A, Pericak-Vance M, Akinyemi R. Developing biobanking processes for Alzheimer's disease and related dementia research in Africa: Experience from the Recruitment and Retention for Alzheimer's Disease Diversity in the Alzheimer's Disease Sequencing Project (READD-ADSP). Alzheimers Dement. 2025 Aug;21(8):e70559. doi: 10.1002/alz.70559. PubMed PMID: 40819212; PubMed Central PMCID: PMC12358004.

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Akinyemi R, Omotoso O, Kamada L, Ndetei D, Cuccaro M, Akpalu A, Adams LD, Sarfo SF, Njamnshi AK, Whitehead P, Okubadejo N, Ramon MP, Damasceno A, Williams S, Ayele B, Zenebe Y, Adokounou T, Ikanga J, Boshe J, Akinyemi J, Elugbadebo O, Obiako R, Wahab K, Iwuozo E, Akinwande K, Paddick SM, Ogunronbi M, Musyimi C, Ibuchim A, Ogunde G, Coker M, Adeniji O, Cadmus E, Olalusi O, Ciesielski T, Nwani P, Blanton SH, Olowoyo P, Ojo O, Durodoye R, Osaigbovo G, Nakasujja N, Andrea MD, Ojagbemi A, Ogbole G, Farombi T, Ogundele AT, Seixas A, Adebusoye L, Nichols M, Nwazor EO, Osemwegie N, Guerchet M, Rajabli F, Olowookere O, McCauley JL, Arulogun O, Seshadri S, Owolabi M, Tosto G, Byrd G, Walker R, Reitz C, Bush W, Baiyewu O, Griswold AJ, Kunkle BW, Haines J, Kalaria RN, Vance JM, Ogunniyi A, Pericak-Vance M. Recruitment and Retention for Alzheimer's Disease Diversity Genetic Cohorts in the ADSP (READD-ADSP): A global effort to identify genetic factors in Alzheimer's disease. Alzheimers Dement (N Y). 2025 Jul-Sep;11(3):e70148. doi: 10.1002/trc2.70148. eCollection 2025 Jul-Sep. PubMed PMID: 40861501; PubMed Central PMCID: PMC12375874.

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Sharma S, Nagar SD, Pemu P, Zuchner S, SEEC Consortium, Mariño-Ramírez L, Meller R, Jordan IK. Genetic ancestry and population structure in the All of Us Research Program cohort. Nat Commun. 2025 May 3;16(1):4123. doi: 10.1038/s41467-025-59351-8. PubMed PMID: 40319026; PubMed Central PMCID: PMC12049439.

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Amezcua L, Cardenas-Iniguez C, Orlando C, Martinez A, Nahar I, Delgado SR, Manrique CP, Vicente I, Chinea A, McCauley JL, Islam KTS. Person-Centered Social Determinants and Neighborhood-Level Deprivation Associated With Disability in Hispanic People With Multiple Sclerosis. Neurology. 2025 Feb 11;104(3):e213332. doi: 10.1212/WNL.0000000000213332. Epub 2025 Jan 16. PubMed PMID: 39819097.

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Klein D, Montgomery A, Begale M, Sutherland S, Sawyer S, McCauley JL, Husbands L, Joshi D, Ashbeck A, Palmer M, Jain P. Building a Digital Health Research Platform to Enable Recruitment, Enrollment, Data Collection, and Follow-Up for a Highly Diverse Longitudinal US Cohort of 1 Million People in the All of Us Research Program: Design and Implementation Study. J Med Internet Res. 2025 Jan 15;27:e60189. doi: 10.2196/60189. PubMed PMID: 39813673; PubMed Central PMCID: PMC11780292.

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Gibson G, Rioux JD, Cho JH, Haritunians T, Thoutam A, Abreu MT, Brant SR, Kugathasan S, McCauley JL, Silverberg M, McGovern D. Eleven Grand Challenges for Inflammatory Bowel Disease Genetics and Genomics. Inflamm Bowel Dis. 2025 Jan 6;31(1):272-284. doi: 10.1093/ibd/izae269. Review. PubMed PMID: 39700476; PubMed Central PMCID: PMC11700891.

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Miranda-Acuña J, Casallas-Vanegas A, McCauley J, Castro-Castro P, Amezcua L. Multiple sclerosis in Colombia: A review of the literature. Mult Scler J Exp Transl Clin. 2024 Oct-Dec;10(4):20552173241293921. doi: 10.1177/20552173241293921. eCollection 2024 Oct-Dec. Review. PubMed PMID: 39600996; PubMed Central PMCID: PMC11590136.

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Ioannou S, Beecham A, Gomez L, Dauer R, Khakoo N, Pascual L, Quintero M, Lopez J, Leavitt JS, Solis N, Ortega M, Deshpande AR, Kerman DH, Proksell S, Torres EA, Haritunians T, Li D, Abreu MT, McGovern DPB, McCauley JL, Damas OM. Ancestral Diversity in Pharmacogenomics Affects Treatment for Hispanic/Latine Populations With Inflammatory Bowel Disease. Clin Gastroenterol Hepatol. 2025 May;23(6):1008-1018.e7. doi: 10.1016/j.cgh.2024.07.032. Epub 2024 Aug 23. PubMed PMID: 39181428; PubMed Central PMCID: PMC11846958.

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Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Undiagnosed Diseases Network, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. PubMed PMID: 39181022.

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Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Undiagnosed Diseases Network, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov;26(11):101218. doi: 10.1016/j.gim.2024.101218. Epub 2024 Jul 19. PubMed PMID: 39036895; PubMed Central PMCID: PMC11648989.

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Koenig Z, Yohannes MT, Nkambule LL, Zhao X, Goodrich JK, Kim HA, Wilson MW, Tiao G, Hao SP, Sahakian N, Chao KR, Walker MA, Lyu Y, gnomAD Project Consortium, Rehm HL, Neale BM, Talkowski ME, Daly MJ, Brand H, Karczewski KJ, Atkinson EG, Martin AR. A harmonized public resource of deeply sequenced diverse human genomes. Genome Res. 2024 Jun 25;34(5):796-809. doi: 10.1101/gr.278378.123. PubMed PMID: 38749656; PubMed Central PMCID: PMC11216312.

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Venner E, Patterson K, Kalra D, Wheeler MM, Chen YJ, Kalla SE, Yuan B, Karnes JH, Walker K, Smith JD, McGee S, Radhakrishnan A, Haddad A, Empey PE, Wang Q, Lichtenstein L, Toledo D, Jarvik G, Musick A, Gibbs RA, All of Us Research Program Investigators. Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun Biol. 2024 Jun 10;7(1):713. doi: 10.1038/s42003-024-06408-x. PubMed PMID: 38858496; PubMed Central PMCID: PMC11164965.

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Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM, Undiagnosed Diseases Network, Worthey EA, Ashley EA, Montgomery SB, Fisher PG, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder. Genet Med. 2024 Sep;26(9):101166. doi: 10.1016/j.gim.2024.101166. Epub 2024 May 17. PubMed PMID: 38767059; PubMed Central PMCID: PMC11451386.

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Lincoln MR, Connally N, Axisa PP, Gasperi C, Mitrovic M, van Heel D, Wijmenga C, Withoff S, Jonkers IH, Padyukov L, International Multiple Sclerosis Genetics Consortium, Rich SS, Graham RR, Gaffney PM, Langefeld CD, Vyse TJ, Hafler DA, Chun S, Sunyaev SR, Cotsapas C. Genetic mapping across autoimmune diseases reveals shared associations and mechanisms. Nat Genet. 2024 May;56(5):838-845. doi: 10.1038/s41588-024-01732-8. Epub 2024 May 13. PubMed PMID: 38741015; PubMed Central PMCID: PMC13095137.

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Pucel J, Briere LC, Reuter C, Gochyyev P, Undiagnosed Diseases Network, LeBlanc K. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. Genet Med. 2024 Jun;26(6):101115. doi: 10.1016/j.gim.2024.101115. Epub 2024 Mar 1. PubMed PMID: 38436216; PubMed Central PMCID: PMC11161308.

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Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P, Undiagnosed Diseases Network, Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. De novo variants in DENND5B cause a neurodevelopmental disorder. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. PubMed PMID: 38387458; PubMed Central PMCID: PMC10940048.

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Venner E, Patterson K, Kalra D, Wheeler MM, Chen YJ, Kalla SE, Yuan B, Karnes JH, Walker K, Smith JD, McGee S, Radhakrishnan A, Haddad A, Empey PE, Wang Q, Lichtenstein L, Toledo D, Jarvik G, Musick A, Gibbs RA, All of Us Research Program Investigators. The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun Biol. 2024 Feb 19;7(1):174. doi: 10.1038/s42003-023-05708-y. PubMed PMID: 38374434; PubMed Central PMCID: PMC10876563.

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All of Us Research Program Genomics Investigators. Genomic data in the All of Us Research Program. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. PubMed PMID: 38374255; PubMed Central PMCID: PMC10937371.

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Forghani I, Lang SH, Rodier MJ, Bivona SA, Undiagnosed Diseases Network, Morales AA, Zuchner S, Bademci G, Tekin M. EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder. Am J Med Genet A. 2024 Jun;194(6):e63556. doi: 10.1002/ajmg.a.63556. Epub 2024 Feb 13. PubMed PMID: 38348595; PubMed Central PMCID: PMC11060917.

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Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K, Genome Aggregation Database Consortium, O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. PubMed PMID: 38225470.

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Khakoo NS, Beecham AH, Lyu J, Quintero MA, Gomez L, Abreu MT, Deshpande AR, Kerman DH, McCauley JL, Proksell S, Damas OM. Early Life and Childhood Environmental Exposures, More Than Genetic Predisposition, Influence Age of Diagnosis in a Diverse Cohort of 2952 Patients With IBD. Clin Gastroenterol Hepatol. 2024 Jul;22(7):1462-1474.e5. doi: 10.1016/j.cgh.2024.01.020. Epub 2024 Feb 1. PubMed PMID: 38309494; PubMed Central PMCID: PMC11193642.

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Lu J, Toro C, Adams DR, Undiagnosed Diseases Network, Moreno CAM, Lee WP, Leung YY, Harms MB, Vardarajan B, Heinzen EL. LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants. BMC Genomics. 2024 Jan 26;25(1):115. doi: 10.1186/s12864-023-09935-9. PubMed PMID: 38279154; PubMed Central PMCID: PMC10811831.

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Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. PubMed PMID: 38181735; PubMed Central PMCID: PMC10806447.

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Becerril-Gaitan A, Ding D, Ironside N, Southerland AM, Worrall BB, Testai FD, Flaherty ML, Elkind MS, Koch S, Sung G, Kittner SJ, Mayson DJ, Gonzales N, McCauley JL, Malkoff M, Hall CE, Frankel MR, James ML, Anderson CD, Aronowski J, Savitz SI, Woo D, Chen CJ, ERICH investigators. Association Between Body Mass Index and Functional Outcomes in Patients With Intracerebral Hemorrhage. Neurology. 2024 Jan 23;102(2):e208014. doi: 10.1212/WNL.0000000000208014. Epub 2023 Dec 21. PubMed PMID: 38165334; PubMed Central PMCID: PMC10870743.

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Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K, Genome Aggregation Database Consortium, O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. PubMed PMID: 38057664; PubMed Central PMCID: PMC11629659.

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Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S, gnomAD Project Consortium, Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Inferring compound heterozygosity from large-scale exome sequencing data. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. PubMed PMID: 38057443; PubMed Central PMCID: PMC10872287.

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Astore C, Sharma S, Nagpal S, NIDDK IBD Genetics Consortium, Cutler DJ, Rioux JD, Cho JH, McGovern DPB, Brant SR, Kugathasan S, Jordan IK, Gibson G. The role of admixture in the rare variant contribution to inflammatory bowel disease. Genome Med. 2023 Nov 15;15(1):97. doi: 10.1186/s13073-023-01244-w. PubMed PMID: 37968638; PubMed Central PMCID: PMC10647102.

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Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W, Deciphering Developmental Disorders, Genomics England Research Consortium, Undiagnosed Disease Network, Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. PubMed PMID: 37947183; PubMed Central PMCID: PMC10932913.

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Parodi L, Comeau ME, Georgakis MK, Mayerhofer E, Chung J, Falcone GJ, Malik R, Demel SL, Worrall BB, Koch S, Testai FD, Kittner SJ, McCauley JL, Hall CE, Mayson DJ, Elkind MSV, James ML, Woo D, Rosand J, Langefeld CD, Anderson CD. Deep Resequencing of the 1q22 Locus in Non-Lobar Intracerebral Hemorrhage. Ann Neurol. 2024 Feb;95(2):325-337. doi: 10.1002/ana.26814. Epub 2023 Oct 14. PubMed PMID: 37787451; PubMed Central PMCID: PMC10843118.

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Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H, Undiagnosed Diseases Network, Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. PubMed PMID: 37743782; PubMed Central PMCID: PMC11221546.

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Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D, Genomics England Research Consortium, Undiagnosed Diseases Network, Elgersma Y, van Esbroeck ACM. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. PubMed PMID: 37541189; PubMed Central PMCID: PMC10432175.

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Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. PubMed PMID: 37451268; PubMed Central PMCID: PMC10432144.

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Ferru-Clément R, Boucher G, Forest A, Bouchard B, Bitton A, Lesage S, Schumm P, Lazarev M, Brant S, Duerr RH, McGovern DPB, Silverberg M, Cho JH, NIDDK IBD Genetics Consortium, iGenoMed Consortium, Ananthakrishnan A, Xavier RJ, Rioux JD, Des Rosiers C. Serum Lipidomic Screen Identifies Key Metabolites, Pathways, and Disease Classifiers in Crohn's Disease. Inflamm Bowel Dis. 2023 Jul 5;29(7):1024-1037. doi: 10.1093/ibd/izac281. PubMed PMID: 36662167; PubMed Central PMCID: PMC10320374.

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International Multiple Sclerosis Genetics Consortium, MultipleMS Consortium. Locus for severity implicates CNS resilience in progression of multiple sclerosis. Nature. 2023 Jul;619(7969):323-331. doi: 10.1038/s41586-023-06250-x. Epub 2023 Jun 28. PubMed PMID: 37380766; PubMed Central PMCID: PMC10602210.

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Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Turvey SE, Lehman A. Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 Nov;60(11):1092-1104. doi: 10.1136/jmg-2022-109127. Epub 2023 Jun 14. PubMed PMID: 37316189; PubMed Central PMCID: PMC11206234.

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Halley MC, Young JL, Tang C, Mintz KT, Lucas-Griffin S, Maghiro A, Ashley EA, Tabor HK, Undiagnosed Diseases Network. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. J Pediatr. 2023 Oct;261:113537. doi: 10.1016/j.jpeds.2023.113537. Epub 2023 Jun 2. PubMed PMID: 37271495; PubMed Central PMCID: PMC10527480.

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Jokubaitis VG, Campagna MP, Ibrahim O, Stankovich J, Kleinova P, Matesanz F, Hui D, Eichau S, Slee M, Lechner-Scott J, Lea R, Kilpatrick TJ, Kalincik T, De Jager PL, Beecham A, McCauley JL, Taylor BV, Vucic S, Laverick L, Vodehnalova K, García-Sanchéz MI, Alcina A, van der Walt A, Havrdova EK, Izquierdo G, Patsopoulos N, Horakova D, Butzkueven H. Not all roads lead to the immune system: the genetic basis of multiple sclerosis severity. Brain. 2023 Jun 1;146(6):2316-2331. doi: 10.1093/brain/awac449. PubMed PMID: 36448302.