My Bibliography

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Liu S, Bush WS, Miskimen K, Gonzalez-Vicente A, Bailey JNC, Konidari I, McCauley JL, Sedor JR, O'Toole JF, Crawford DC. T-cell receptor diversity in minimal change disease in the NEPTUNE study. Pediatr Nephrol. 2023 Apr;38(4):1115-1126. doi: 10.1007/s00467-022-05696-x. Epub 2022 Aug 9. PubMed PMID: 35943576.

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Shams H, Shao X, Santaniello A, Kirkish G, Harroud A, Ma Q, Isobe N, Schaefer CA, McCauley JL, Cree BAC, Didonna A, Baranzini SE, Patsopoulos NA, Hauser SL, Barcellos LF, Henry RG, Oksenberg JR. Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans. Brain. 2023 Feb 13;146(2):645-656. doi: 10.1093/brain/awac092. PubMed PMID: 35253861.

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Rice C, Nag Ayyala D, Shi H, Madera-Acosta A, Bell S, Qureshi A, Carbone LD, Coughlin SS, Elam RE. Sex and racial differences in systemic lupus erythematosus among U.S. adults in the All of Us Research Program. Arthritis Care Res (Hoboken). 2023 Jan 27;. doi: 10.1002/acr.25093. [Epub ahead of print] PubMed PMID: 36705447; NIHMSID:NIHMS1869434.

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Beecham AH, Amezcua L, Chinea A, Manrique CP, Gomez L, Martinez A, Beecham GW, Patsopoulos NA, Chitnis T, Weiner HL, De Jager PL, Burchard EG, Lund BT, Fitzgerald KC, Calabresi PA, Delgado SR, Oksenberg JR, McCauley JL. Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population. PLoS One. 2022;17(12):e0279132. doi: 10.1371/journal.pone.0279132. eCollection 2022. PubMed PMID: 36548255; PubMed Central PMCID: PMC9778564.

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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. 2022 Nov 30;. doi: 10.1093/brain/awac449. [Epub ahead of print] PubMed PMID: 36448302.

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Nagar SD, Pemu P, Qian J, Boerwinkle E, Cicek M, Clark CR, Cohn E, Gebo K, Loperena R, Mayo K, Mockrin S, Ohno-Machado L, Ramirez AH, Schully S, Able A, Green A, Zuchner S, Jordan IK, Meller R. Investigation of hypertension and type 2 diabetes as risk factors for dementia in the All of Us cohort. Sci Rep. 2022 Nov 17;12(1):19797. doi: 10.1038/s41598-022-23353-z. PubMed PMID: 36396674; PubMed Central PMCID: PMC9672061.

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Montanez-Valverde R, McCauley J, Isasi R, Zuchner S, Carrasquillo O. Revisiting the Latino Epidemiologic Paradox: an Analysis of Data from the All of Us Research Program. J Gen Intern Med. 2022 Nov;37(15):4013-4014. doi: 10.1007/s11606-022-07625-y. Epub 2022 May 3. PubMed PMID: 35505219; PubMed Central PMCID: PMC9640481.

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Ng Y, Qi W, King NKK, Christianson T, Krishnamoorthy V, Shah S, Divani A, Bettin M, Coleman ER, Flaherty ML, Walsh KB, Testai FD, McCauley JL, Gilkerson LA, Langefeld CD, Behymer TP, Woo D, James ML. Initial antihypertensive agent effects on acute blood pressure after intracerebral haemorrhage. Stroke Vasc Neurol. 2022 Oct;7(5):367-374. doi: 10.1136/svn-2021-001101. Epub 2022 Apr 20. PubMed PMID: 35443984; PubMed Central PMCID: PMC9614130.

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Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL. Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. PubMed PMID: 35868845; PubMed Central PMCID: PMC9484401.

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Almazan E, Yenokyan G, Ng K. Systemic diseases associated with a diagnosis of achalasia: A case-control study with the All of Us research program. Eur J Intern Med. 2022 Oct;104:125-127. doi: 10.1016/j.ejim.2022.05.029. Epub 2022 Jun 1. PubMed PMID: 35659155; PubMed Central PMCID: PMC9530013.

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Goris A, Vandebergh M, McCauley JL, Saarela J, Cotsapas C. Genetics of multiple sclerosis: lessons from polygenicity. Lancet Neurol. 2022 Sep;21(9):830-842. doi: 10.1016/S1474-4422(22)00255-1. Review. PubMed PMID: 35963264.

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Sazonovs A, Stevens CR, Venkataraman GR, Yuan K, Avila B, Abreu MT, Ahmad T, Allez M, Ananthakrishnan AN, Atzmon G, Baras A, Barrett JC, Barzilai N, Beaugerie L, Beecham A, Bernstein CN, Bitton A, Bokemeyer B, Chan A, Chung D, Cleynen I, Cosnes J, Cutler DJ, Daly A, Damas OM, Datta LW, Dawany N, Devoto M, Dodge S, Ellinghaus E, Fachal L, Farkkila M, Faubion W, Ferreira M, Franchimont D, Gabriel SB, Ge T, Georges M, Gettler K, Giri M, Glaser B, Goerg S, Goyette P, Graham D, Hämäläinen E, Haritunians T, Heap GA, Hiltunen M, Hoeppner M, Horowitz JE, Irving P, Iyer V, Jalas C, Kelsen J, Khalili H, Kirschner BS, Kontula K, Koskela JT, Kugathasan S, Kupcinskas J, Lamb CA, Laudes M, Lévesque C, Levine AP, Lewis JD, Liefferinckx C, Loescher BS, Louis E, Mansfield J, May S, McCauley JL, Mengesha E, Mni M, Moayyedi P, Moran CJ, Newberry RD, O'Charoen S, Okou DT, Oldenburg B, Ostrer H, Palotie A, Paquette J, Pekow J, Peter I, Pierik MJ, Ponsioen CY, Pontikos N, Prescott N, Pulver AE, Rahmouni S, Rice DL, Saavalainen P, Sands B, Sartor RB, Schiff ER, Schreiber S, Schumm LP, Segal AW, Seksik P, Shawky R, Sheikh SZ, Silverberg MS, Simmons A, Skeiceviciene J, Sokol H, Solomonson M, Somineni H, Sun D, Targan S, Turner D, Uhlig HH, van der Meulen AE, Vermeire S, Verstockt S, Voskuil MD, Winter HS, Young J, Duerr RH, Franke A, Brant SR, Cho J, Weersma RK, Parkes M, Xavier RJ, Rivas MA, Rioux JD, McGovern DPB, Huang H, Anderson CA, Daly MJ. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility. Nat Genet. 2022 Sep;54(9):1275-1283. doi: 10.1038/s41588-022-01156-2. Epub 2022 Aug 29. PubMed PMID: 36038634; PubMed Central PMCID: PMC9700438.

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Ramirez AH, Sulieman L, Schlueter DJ, Halvorson A, Qian J, Ratsimbazafy F, Loperena R, Mayo K, Basford M, Deflaux N, Muthuraman KN, Natarajan K, Kho A, Xu H, Wilkins C, Anton-Culver H, Boerwinkle E, Cicek M, Clark CR, Cohn E, Ohno-Machado L, Schully SD, Ahmedani BK, Argos M, Cronin RM, O'Donnell C, Fouad M, Goldstein DB, Greenland P, Hebbring SJ, Karlson EW, Khatri P, Korf B, Smoller JW, Sodeke S, Wilbanks J, Hentges J, Mockrin S, Lunt C, Devaney SA, Gebo K, Denny JC, Carroll RJ, Glazer D, Harris PA, Hripcsak G, Philippakis A, Roden DM. The All of Us Research Program: Data quality, utility, and diversity. Patterns (N Y). 2022 Aug 12;3(8):100570. doi: 10.1016/j.patter.2022.100570. eCollection 2022 Aug 12. PubMed PMID: 36033590; PubMed Central PMCID: PMC9403360.

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Gudmundsson S, Singer-Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M, Rehm HL, MacArthur DG, O'Donnell-Luria A. Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat. 2022 Aug;43(8):1012-1030. doi: 10.1002/humu.24309. Epub 2021 Dec 16. Review. PubMed PMID: 34859531; PubMed Central PMCID: PMC9160216.

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Nova A, Baldrighi GN, Fazia T, Graziano F, Saddi V, Piras M, Beecham A, McCauley JL, Bernardinelli L. Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data. Life (Basel). 2022 Jul 21;12(7). doi: 10.3390/life12071101. PubMed PMID: 35888189; PubMed Central PMCID: PMC9317284.

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Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28. PubMed PMID: 35482014; PubMed Central PMCID: PMC9426662.

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Kohler JN, Kelley EG, Boyd BM, Sillari CH, Marwaha S, Wheeler MT. Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. J Genet Couns. 2022 Apr;31(2):326-337. doi: 10.1002/jgc4.1493. Epub 2021 Aug 10. PubMed PMID: 34374469.

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Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S, Bademci G, Tekin M. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Mol Genet Genomic Med. 2022 Apr;10(4):e1892. doi: 10.1002/mgg3.1892. Epub 2022 Mar 5. PubMed PMID: 35247231; PubMed Central PMCID: PMC9000935.

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Peart LS, Gonzalez J, Bivona S, Latchman K, Torres L, Tekin M. Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant. Am J Med Genet A. 2022 Apr;188(4):1307-1310. doi: 10.1002/ajmg.a.62634. Epub 2022 Jan 7. PubMed PMID: 34995019.

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Jacobsen GE, Fernández I, Quintero MA, Santander AM, Pignac-Kobinger J, Damas OM, Deshpande AR, Kerman DH, Ban Y, Gao Z, Silva TC, Wang L, Beecham AH, McCauley JL, Burgueño JF, Abreu MT. Lamina Propria Phagocyte Profiling Reveals Targetable Signaling Pathways in Refractory Inflammatory Bowel Disease. Gastro Hep Adv. 2022;1(3):380-392. doi: 10.1016/j.gastha.2022.01.005. Epub 2022 Mar 30. PubMed PMID: 36061955; PubMed Central PMCID: PMC9438737.

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Laricchia KM, Lake NJ, Watts NA, Shand M, Haessly A, Gauthier L, Benjamin D, Banks E, Soto J, Garimella K, Emery J, Rehm HL, MacArthur DG, Tiao G, Lek M, Mootha VK, Calvo SE. Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Res. 2022 Mar;32(3):569-582. doi: 10.1101/gr.276013.121. Epub 2022 Jan 24. PubMed PMID: 35074858; PubMed Central PMCID: PMC8896463.

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Woo D, Comeau ME, Venema SU, Anderson CD, Flaherty M, Testai F, Kittner S, Frankel M, James ML, Sung G, Elkind M, Worrall B, Kidwell C, Gonzales N, Koch S, Hall C, Birnbaum L, Mayson D, Coull B, Malkoff M, Sheth KN, McCauley JL, Osborne J, Morgan M, Gilkerson L, Behymer T, Coleman ER, Rosand J, Sekar P, Moomaw CJ, Langefeld CD. Risk Factors Associated With Mortality and Neurologic Disability After Intracerebral Hemorrhage in a Racially and Ethnically Diverse Cohort. JAMA Netw Open. 2022 Mar 1;5(3):e221103. doi: 10.1001/jamanetworkopen.2022.1103. PubMed PMID: 35289861; PubMed Central PMCID: PMC8924717.

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McConkie-Rosell A, Schoch K, Sullivan J, Spillmann RC, Cope H, Tan QK, Palmer CGS, Hooper SR, Shashi V. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. J Genet Couns. 2022 Feb;31(1):59-70. doi: 10.1002/jgc4.1451. Epub 2021 Jun 11. PubMed PMID: 34115423; PubMed Central PMCID: PMC8664895.

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Schymick J, Leahy P, Cowan T, Ruzhnikov MRZ, Gates R, Fernandez L, Pramanik G, Yarlagadda V, Wheeler M, Bernstein JA, Enns GM, Lee C. Variable clinical severity in TANGO2 deficiency: Case series and literature review. Am J Med Genet A. 2022 Feb;188(2):473-487. doi: 10.1002/ajmg.a.62543. Epub 2021 Oct 19. Review. PubMed PMID: 34668327.

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Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Network UD, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 Jan 21;8(3):eabl5613. doi: 10.1126/sciadv.abl5613. Epub 2022 Jan 19. PubMed PMID: 35044823; PubMed Central PMCID: PMC8769555.

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Nova A, Fazia T, Beecham A, Saddi V, Piras M, McCauley JL, Berzuini C, Bernardinelli L. Plasma Protein Levels Analysis in Multiple Sclerosis Sardinian Families Identified C9 and CYP24A1 as Candidate Biomarkers. Life (Basel). 2022 Jan 20;12(2). doi: 10.3390/life12020151. PubMed PMID: 35207439; PubMed Central PMCID: PMC8879906.

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Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L, Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021 Dec;23(12):2467. doi: 10.1038/s41436-021-01189-8. PubMed PMID: 34667295; PubMed Central PMCID: PMC8629751.

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Deuitch NT, Beckman E, Halley MC, Young JL, Reuter CM, Kohler J, Bernstein JA, Wheeler MT, Ormond KE, Tabor HK. "Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey. J Genet Couns. 2021 Dec;30(6):1707-1718. doi: 10.1002/jgc4.1438. Epub 2021 Jun 6. PubMed PMID: 34096130; PubMed Central PMCID: PMC8777467.

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Fazia T, Marzanati D, Carotenuto AL, Beecham A, Hadjixenofontos A, McCauley JL, Saddi V, Piras M, Bernardinelli L, Gentilini D. Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families. Curr Issues Mol Biol. 2021 Oct 27;43(3):1778-1793. doi: 10.3390/cimb43030125. PubMed PMID: 34889895; PubMed Central PMCID: PMC8929092.

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Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Rush E, Pitt GS, Au PYB, Shashi V. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. PubMed PMID: 34163037; PubMed Central PMCID: PMC8488020.

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Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 Oct;23(10):1889-1900. doi: 10.1038/s41436-021-01216-8. Epub 2021 Jun 10. PubMed PMID: 34113007; PubMed Central PMCID: PMC8487929.

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Brokamp E, Koziura ME, Phillips JA 3rd, Tang LA, Cogan JD, Rives LC, Robertson AK, Duncan L, Bican A, Peterson JF, Newman JH, Hamid R, Bastarache L. One is the loneliest number: genotypic matchmaking using the electronic health record. Genet Med. 2021 Oct;23(10):1830-1832. doi: 10.1038/s41436-021-01179-w. Epub 2021 Jul 6. PubMed PMID: 34230636.

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Kittner SJ, Sekar P, Comeau ME, Anderson CD, Parikh GY, Tavarez T, Flaherty ML, Testai FD, Frankel MR, James ML, Sung G, Elkind MSV, Worrall BB, Kidwell CS, Gonzales NR, Koch S, Hall CE, Birnbaum L, Mayson D, Coull B, Malkoff MD, Sheth KN, McCauley JL, Osborne J, Morgan M, Gilkerson LA, Behymer TP, Demel SL, Moomaw CJ, Rosand J, Langefeld CD, Woo D. Ethnic and Racial Variation in Intracerebral Hemorrhage Risk Factors and Risk Factor Burden. JAMA Netw Open. 2021 Aug 2;4(8):e2121921. doi: 10.1001/jamanetworkopen.2021.21921. PubMed PMID: 34424302; PubMed Central PMCID: PMC8383133.

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Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet Med. 2021 Aug;23(8):1465-1473. doi: 10.1038/s41436-021-01152-7. Epub 2021 Apr 8. PubMed PMID: 33833410; PubMed Central PMCID: PMC8354857.

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Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S, Bi W. PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021 Aug;100(2):227-233. doi: 10.1111/cge.13979. Epub 2021 Jun 1. PubMed PMID: 33963760.

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Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K, Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gérard B, Bloch-Zupan A, Smith RJ, Klee EW. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. Am J Med Genet A. 2021 Aug;185(8):2417-2433. doi: 10.1002/ajmg.a.62347. Epub 2021 May 27. PubMed PMID: 34042254; PubMed Central PMCID: PMC8361973.

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Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS, Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 Aug;185(8):2315-2324. doi: 10.1002/ajmg.a.62232. Epub 2021 May 5. PubMed PMID: 33949769; PubMed Central PMCID: PMC8562426.

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Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A, Vilain E, Shashi V. Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Mol Genet Genomic Med. 2021 Jul;9(7):e1665. doi: 10.1002/mgg3.1665. Epub 2021 May 6. PubMed PMID: 33955715; PubMed Central PMCID: PMC8372083.

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Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4. PubMed PMID: 33944996; PubMed Central PMCID: PMC8197709.

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Chandler PD, Clark CR, Zhou G, Noel NL, Achilike C, Mendez L, Ramirez AH, Loperena-Cortes R, Mayo K, Cohn E, Ohno-Machado L, Boerwinkle E, Cicek M, Qian J, Schully S, Ratsimbazafy F, Mockrin S, Gebo K, Dedier JJ, Murphy SN, Smoller JW, Karlson EW. Hypertension prevalence in the All of Us Research Program among groups traditionally underrepresented in medical research. Sci Rep. 2021 Jun 22;11(1):12849. doi: 10.1038/s41598-021-92143-w. PubMed PMID: 34158555; PubMed Central PMCID: PMC8219813.

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Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ, Sunyaev SR, Kohane IS. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. PubMed PMID: 33580225; PubMed Central PMCID: PMC8187147.

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Sturrock BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J, Tifft CJ, Gordon-Lipkin E. Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum. Mol Genet Genomic Med. 2021 Jun;9(6):e1692. doi: 10.1002/mgg3.1692. Epub 2021 May 7. PubMed PMID: 33960148; PubMed Central PMCID: PMC8222855.

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LeBlanc K, Kelley EG, Nagy A, Bater J, Berro T, McGuinness MA, Studwell C, Might M. Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network. Orphanet J Rare Dis. 2021 May 10;16(1):210. doi: 10.1186/s13023-021-01825-1. PubMed PMID: 33971915; PubMed Central PMCID: PMC8108446.

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Baldridge D, Wangler MF, Bowman AN, Yamamoto S, Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M. Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021 May 7;16(1):206. doi: 10.1186/s13023-021-01839-9. PubMed PMID: 33962631; PubMed Central PMCID: PMC8103593.

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Studwell CM, Kelley EG, Sinsheimer JS, Palmer CGS, LeBlanc K. Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. J Genet Couns. 2021 Apr;30(2):439-447. doi: 10.1002/jgc4.1329. Epub 2020 Oct 27. PubMed PMID: 33108040; PubMed Central PMCID: PMC8207526.

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Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L, Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26. PubMed PMID: 33239752; PubMed Central PMCID: PMC8026396.

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Somineni HK, Nagpal S, Venkateswaran S, Cutler DJ, Okou DT, Haritunians T, Simpson CL, Begum F, Datta LW, Quiros AJ, Seminerio J, Mengesha E, Alexander JS, Baldassano RN, Dudley-Brown S, Cross RK, Dassopoulos T, Denson LA, Dhere TA, Iskandar H, Dryden GW, Hou JK, Hussain SZ, Hyams JS, Isaacs KL, Kader H, Kappelman MD, Katz J, Kellermayer R, Kuemmerle JF, Lazarev M, Li E, Mannon P, Moulton DE, Newberry RD, Patel AS, Pekow J, Saeed SA, Valentine JF, Wang MH, McCauley JL, Abreu MT, Jester T, Molle-Rios Z, Palle S, Scherl EJ, Kwon J, Rioux JD, Duerr RH, Silverberg MS, Zwick ME, Stevens C, Daly MJ, Cho JH, Gibson G, McGovern DPB, Brant SR, Kugathasan S. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet. 2021 Mar 4;108(3):431-445. doi: 10.1016/j.ajhg.2021.02.001. Epub 2021 Feb 17. PubMed PMID: 33600772; PubMed Central PMCID: PMC8008495.

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Chiong-Rivero H, Robers M, Martinez A, Manrique CP, Diaz A, Polito K, Vajdi B, Chan C, Burnett M, Delgado SR, Chinea A, McCauley JL, Amezcua L. Effectiveness of film as a health communication tool to improve perceptions and attitudes in multiple sclerosis. Mult Scler J Exp Transl Clin. 2021 Jan-Mar;7(1):2055217321995947. doi: 10.1177/2055217321995947. eCollection 2021 Jan-Mar. PubMed PMID: 33717502; PubMed Central PMCID: PMC7923991.

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Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT, Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. PubMed PMID: 33093671; PubMed Central PMCID: PMC7867619.

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Placek K, Benatar M, Wuu J, Rampersaud E, Hennessy L, Van Deerlin VM, Grossman M, Irwin DJ, Elman L, McCluskey L, Quinn C, Granit V, Statland JM, Burns TM, Ravits J, Swenson A, Katz J, Pioro EP, Jackson C, Caress J, So Y, Maiser S, Walk D, Lee EB, Trojanowski JQ, Cook P, Gee J, Sha J, Naj AC, Rademakers R, Chen W, Wu G, Paul Taylor J, McMillan CT. Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis. EMBO Mol Med. 2021 Jan 11;13(1):e12595. doi: 10.15252/emmm.202012595. Epub 2020 Dec 3. PubMed PMID: 33270986; PubMed Central PMCID: PMC7799365.