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Year Number of Results
2000 1
2001 2
2002 1
2003 3
2004 2
2005 1
2006 6
2007 17
2008 36
2009 59
2010 56
2011 61
2012 60
2013 56
2014 50
2015 46
2016 43
2017 45
2018 36
2019 47
2020 29
2021 25
2022 28
2023 15
2024 18
2025 11
2026 2

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Page 1
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.
Silverstein S, Cassini T, Fu J, Pusey B, Macnamara E, Frost FG, Williams C, Huang Y, Tifft CJ; Undiagnosed Diseases Network; Gahl W, Malicdan MC, Adams DR. Silverstein S, et al. Mol Genet Metab. 2025 May;145(1):109105. doi: 10.1016/j.ymgme.2025.109105. Epub 2025 Apr 7. Mol Genet Metab. 2025. PMID: 40215727 Free PMC article.
Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Greene S, Soldatos A, Toro C, Zein WM, Snow J, Lehky TJ, Malicdan MCV, Introne WJ. Greene S, et al. Semin Pediatr Neurol. 2024 Dec;52:101168. doi: 10.1016/j.spen.2024.101168. Epub 2024 Nov 8. Semin Pediatr Neurol. 2024. PMID: 39622608 Free PMC article. Review.
Impairment of Renal Function in Hermansky-Pudlak Syndrome.
Yokoyama T, O'Brien KJ, Franklin TM, Zuo BLG, Zuo MXG, Merideth MA, Introne WJ, Gochuico BR. Yokoyama T, et al. Am J Nephrol. 2025;56(1):25-34. doi: 10.1159/000541835. Epub 2024 Oct 9. Am J Nephrol. 2025. PMID: 39383848 Free PMC article.
Advancing genomics to improve health equity.
Madden EB, Hindorff LA, Bonham VL, Akintobi TH, Burchard EG, Baker KE, Begay RL, Carpten JD, Cox NJ, Di Francesco V, Dillard DA, Fletcher FE, Fullerton SM, Garrison NA, Hammack-Aviran CM, Hiratsuka VY, Hildreth JEK, Horowitz CR, Hughes Halbert CA, Inouye M, Jackson A, Landry LG, Kittles RA, Leek JT, Limdi NA, Lockhart NC, Ofili EO, Pérez-Stable EJ, Sabatello M, Saulsberry L, Schools LE, Troyer JL, Wilfond BS, Wojcik GL, Cho JH, Lee SS, Green ED. Madden EB, et al. Nat Genet. 2024 May;56(5):752-757. doi: 10.1038/s41588-024-01711-z. Epub 2024 Apr 29. Nat Genet. 2024. PMID: 38684898 Free PMC article. Review.
Calciphylaxis in POEMS syndrome: Case report.
Novacic D, Uldrick T, Dulau-Florea A, Howe CE, Lee CR, Kong HH, Gahl WA. Novacic D, et al. Rare. 2024;2:100019. doi: 10.1016/j.rare.2024.100019. Epub 2024 Feb 1. Rare. 2024. PMID: 38435320 Free PMC article.
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Morimoto M, Nicoli ER, Kuptanon C, Roney JC, Serra-Vinardell J, Sharma P, Adams DR, Gallin JI, Holland SM, Rosenzweig SD, Barbot J, Ciccone C, Huizing M, Toro C, Gahl WA, Introne WJ, Malicdan MCV. Morimoto M, et al. J Med Genet. 2024 Feb 21;61(3):212-223. doi: 10.1136/jmg-2023-109420. J Med Genet. 2024. PMID: 37788905 Free PMC article. Review.
The complete sequence of a human Y chromosome.
Rhie A, Nurk S, Cechova M, Hoyt SJ, Taylor DJ, Altemose N, Hook PW, Koren S, Rautiainen M, Alexandrov IA, Allen J, Asri M, Bzikadze AV, Chen NC, Chin CS, Diekhans M, Flicek P, Formenti G, Fungtammasan A, Garcia Giron C, Garrison E, Gershman A, Gerton JL, Grady PGS, Guarracino A, Haggerty L, Halabian R, Hansen NF, Harris R, Hartley GA, Harvey WT, Haukness M, Heinz J, Hourlier T, Hubley RM, Hunt SE, Hwang S, Jain M, Kesharwani RK, Lewis AP, Li H, Logsdon GA, Lucas JK, Makalowski W, Markovic C, Martin FJ, Mc Cartney AM, McCoy RC, McDaniel J, McNulty BM, Medvedev P, Mikheenko A, Munson KM, Murphy TD, Olsen HE, Olson ND, Paulin LF, Porubsky D, Potapova T, Ryabov F, Salzberg SL, Sauria MEG, Sedlazeck FJ, Shafin K, Shepelev VA, Shumate A, Storer JM, Surapaneni L, Taravella Oill AM, Thibaud-Nissen F, Timp W, Tomaszkiewicz M, Vollger MR, Walenz BP, Watwood AC, Weissensteiner MH, Wenger AM, Wilson MA, Zarate S, Zhu Y, Zook JM, Eichler EE, O'Neill RJ, Schatz MC, Miga KH, Makova KD, Phillippy AM. Rhie A, et al. Nature. 2023 Sep;621(7978):344-354. doi: 10.1038/s41586-023-06457-y. Epub 2023 Aug 23. Nature. 2023. PMID: 37612512 Free PMC article.
Genes, environment, and African ancestry in cardiometabolic disorders.
Doumatey AP, Bentley AR, Akinyemi R, Olanrewaju TO, Adeyemo A, Rotimi C. Doumatey AP, et al. Trends Endocrinol Metab. 2023 Oct;34(10):601-621. doi: 10.1016/j.tem.2023.07.007. Epub 2023 Aug 17. Trends Endocrinol Metab. 2023. PMID: 37598069 Free PMC article. Review.
Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease.
Martínez-López J, Márquez A, Pegoraro F, Ortiz-Fernández L, Acosta-Herrera M, Kerick M, Gelain E, Diamond EL, Durham BH, Abdel-Wahab O, Go RS, Koster MJ, Dagna L, Campochiaro C, Collin M, Milne P, Estrada-Veras JI, O'Brien K, Papo M, Cohen-Aubar F, Amoura Z, Haroche J, Martín J, Vaglio A. Martínez-López J, et al. Arthritis Rheumatol. 2024 Jan;76(1):141-145. doi: 10.1002/art.42673. Epub 2023 Nov 7. Arthritis Rheumatol. 2024. PMID: 37561109 Free PMC article.
Chediak-Higashi syndrome.
Talbert ML, Malicdan MCV, Introne WJ. Talbert ML, et al. Curr Opin Hematol. 2023 Jul 1;30(4):144-151. doi: 10.1097/MOH.0000000000000766. Epub 2023 Apr 25. Curr Opin Hematol. 2023. PMID: 37254856 Free PMC article. Review.
Telomere-to-telomere assembly of diploid chromosomes with Verkko.
Rautiainen M, Nurk S, Walenz BP, Logsdon GA, Porubsky D, Rhie A, Eichler EE, Phillippy AM, Koren S. Rautiainen M, et al. Nat Biotechnol. 2023 Oct;41(10):1474-1482. doi: 10.1038/s41587-023-01662-6. Epub 2023 Feb 16. Nat Biotechnol. 2023. PMID: 36797493 Free PMC article.
MYH2-associated myopathy caused by a novel splice-site variant.
Cassini TA, Malicdan MCV, Macnamara EF, Lehky T, Horkayne-Szakaly I, Huang Y, Jones R, Godfrey R, Wolfe L, Gahl WA, Toro C; Undiagnosed Diseases Network. Cassini TA, et al. Neuromuscul Disord. 2023 Mar;33(3):257-262. doi: 10.1016/j.nmd.2022.12.014. Epub 2022 Dec 28. Neuromuscul Disord. 2023. PMID: 36774715 Free PMC article.
Facial features of lysosomal storage disorders.
D'Souza A, Ryan E, Sidransky E. D'Souza A, et al. Expert Rev Endocrinol Metab. 2022 Nov;17(6):467-474. doi: 10.1080/17446651.2022.2144229. Epub 2022 Nov 16. Expert Rev Endocrinol Metab. 2022. PMID: 36384353 Free PMC article.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Shimada S, et al. J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print. J Med Genet. 2022. PMID: 35790351 Free PMC article.
Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies.
Mc Cartney AM, Shafin K, Alonge M, Bzikadze AV, Formenti G, Fungtammasan A, Howe K, Jain C, Koren S, Logsdon GA, Miga KH, Mikheenko A, Paten B, Shumate A, Soto DC, Sović I, Wood JMD, Zook JM, Phillippy AM, Rhie A. Mc Cartney AM, et al. Nat Methods. 2022 Jun;19(6):687-695. doi: 10.1038/s41592-022-01440-3. Epub 2022 Mar 31. Nat Methods. 2022. PMID: 35361931 Free PMC article.
The complete sequence of a human genome.
Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, Vollger MR, Altemose N, Uralsky L, Gershman A, Aganezov S, Hoyt SJ, Diekhans M, Logsdon GA, Alonge M, Antonarakis SE, Borchers M, Bouffard GG, Brooks SY, Caldas GV, Chen NC, Cheng H, Chin CS, Chow W, de Lima LG, Dishuck PC, Durbin R, Dvorkina T, Fiddes IT, Formenti G, Fulton RS, Fungtammasan A, Garrison E, Grady PGS, Graves-Lindsay TA, Hall IM, Hansen NF, Hartley GA, Haukness M, Howe K, Hunkapiller MW, Jain C, Jain M, Jarvis ED, Kerpedjiev P, Kirsche M, Kolmogorov M, Korlach J, Kremitzki M, Li H, Maduro VV, Marschall T, McCartney AM, McDaniel J, Miller DE, Mullikin JC, Myers EW, Olson ND, Paten B, Peluso P, Pevzner PA, Porubsky D, Potapova T, Rogaev EI, Rosenfeld JA, Salzberg SL, Schneider VA, Sedlazeck FJ, Shafin K, Shew CJ, Shumate A, Sims Y, Smit AFA, Soto DC, Sović I, Storer JM, Streets A, Sullivan BA, Thibaud-Nissen F, Torrance J, Wagner J, Walenz BP, Wenger A, Wood JMD, Xiao C, Yan SM, Young AC, Zarate S, Surti U, McCoy RC, Dennis MY, Alexandrov IA, Gerton JL, O'Neill RJ, Timp W, Zook JM, Schatz MC, Eichler EE, Miga KH, Phillippy AM. Nurk S, et al. Science. 2022 Apr;376(6588):44-53. doi: 10.1126/science.abj6987. Epub 2022 Mar 31. Science. 2022. PMID: 35357919 Free PMC article.
Natural and human-driven selection of a single non-coding body size variant in ancient and modern canids.
Plassais J, vonHoldt BM, Parker HG, Carmagnini A, Dubos N, Papa I, Bevant K, Derrien T, Hennelly LM, Whitaker DT, Harris AC, Hogan AN, Huson HJ, Zaibert VF, Linderholm A, Haile J, Fest T, Habib B, Sacks BN, Benecke N, Outram AK, Sablin MV, Germonpré M, Larson G, Frantz L, Ostrander EA. Plassais J, et al. Curr Biol. 2022 Feb 28;32(4):889-897.e9. doi: 10.1016/j.cub.2021.12.036. Epub 2022 Jan 31. Curr Biol. 2022. PMID: 35090588 Free PMC article.
Survivorship Issues in Adult Patients With Histiocytic Neoplasms.
O'Brien K, Dave R, Shekhar S, Hannah-Shmouni F, Comis LE, Solomon BI, Chen M, Gahl WA, FitzGibbon E, Gochuico BR, Estrada-Veras JI. O'Brien K, et al. J Natl Compr Canc Netw. 2021 Nov;19(11):1312-1318. doi: 10.6004/jnccn.2021.7096. J Natl Compr Canc Netw. 2021. PMID: 34781266 Free PMC article. Review.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, Lee PR, Toro C, Paul SM, Abdul-Rahman OA, Webb BD, Jabs EW, Moller HU, Larsen DA, Antony JH, Troedson C, Ma A, Ragnhild G, Wirgenes KV, Tham E, Kvarnung M, Maarup TJ, MacKinnon S, Hunter DG, Collins FS, Manoli I, Engle EC. Whitman MC, et al. Hum Genet. 2021 Dec;140(12):1709-1731. doi: 10.1007/s00439-021-02379-9. Epub 2021 Oct 15. Hum Genet. 2021. PMID: 34652576 Free PMC article.
EZH2 expression is associated with inferior overall survival in mantle cell lymphoma.
Martinez-Baquero D, Sakhdari A, Mo H, Kim DH, Kanagal-Shamanna R, Li S, Young KH, O'Malley DP, Dogan A, Jain P, Wang ML, McDonnell TJ, Miranda RN, Vega F, Medeiros LJ, Ok CY. Martinez-Baquero D, et al. Mod Pathol. 2021 Dec;34(12):2183-2191. doi: 10.1038/s41379-021-00885-9. Epub 2021 Aug 10. Mod Pathol. 2021. PMID: 34376807 Free PMC article.
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Rossignol F, Duarte Moreno MS, Benoist JF, Boehm M, Bourrat E, Cano A, Chabrol B, Cosson C, Díaz JLD, D'Harlingue A, Dimmock D, Freeman AF, García MT, Garganta C, Goerge T, Halbach SS, de Laffolie J, Lam CT, Martin L, Martins E, Meinhardt A, Melki I, Ombrello AK, Pérez N, Quelhas D, Scott A, Slavotinek AM, Soares AR, Stein SL, Süßmuth K, Thies J, Ferreira CR, Schiff M. Rossignol F, et al. Genet Med. 2021 Sep;23(9):1604-1615. doi: 10.1038/s41436-021-01200-2. Epub 2021 May 26. Genet Med. 2021. PMID: 34040193 Free PMC article.
Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.
Ekure EN, Adeyemo A, Liu H, Sokunbi O, Kalu N, Martinez AF, Owosela B, Tekendo-Ngongang C, Addissie YA, Olusegun-Joseph A, Ikebudu D, Berger SI, Muenke M, Han Z, Kruszka P. Ekure EN, et al. Circ Genom Precis Med. 2021 Feb;14(1):e003108. doi: 10.1161/CIRCGEN.120.003108. Epub 2021 Jan 15. Circ Genom Precis Med. 2021. PMID: 33448881 Free PMC article.
Chediak-Higashi syndrome: a review of the past, present, and future.
Sharma P, Nicoli ER, Serra-Vinardell J, Morimoto M, Toro C, Malicdan MCV, Introne WJ. Sharma P, et al. Drug Discov Today Dis Models. 2020 Summer;31:31-36. doi: 10.1016/j.ddmod.2019.10.008. Epub 2019 Dec 9. Drug Discov Today Dis Models. 2020. PMID: 33424983 Free PMC article.
Strategic vision for improving human health at The Forefront of Genomics.
Green ED, Gunter C, Biesecker LG, Di Francesco V, Easter CL, Feingold EA, Felsenfeld AL, Kaufman DJ, Ostrander EA, Pavan WJ, Phillippy AM, Wise AL, Dayal JG, Kish BJ, Mandich A, Wellington CR, Wetterstrand KA, Bates SA, Leja D, Vasquez S, Gahl WA, Graham BJ, Kastner DL, Liu P, Rodriguez LL, Solomon BD, Bonham VL, Brody LC, Hutter CM, Manolio TA. Green ED, et al. Nature. 2020 Oct;586(7831):683-692. doi: 10.1038/s41586-020-2817-4. Epub 2020 Oct 28. Nature. 2020. PMID: 33116284 Free PMC article. Review.
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley IR, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal MZ, Levine MA, Gafni RI, Gahl WA. Ferreira CR, et al. Genet Med. 2021 Feb;23(2):396-407. doi: 10.1038/s41436-020-00983-0. Epub 2020 Oct 2. Genet Med. 2021. PMID: 33005041 Free PMC article.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Bayat A, et al. Epilepsia. 2020 Jun;61(6):1142-1155. doi: 10.1111/epi.16545. Epub 2020 May 26. Epilepsia. 2020. PMID: 32452540 Free PMC article. Review.
Whole Exome Sequencing of Highly Aggregated Lung Cancer Families Reveals Linked Loci for Increased Cancer Risk on Chromosomes 12q, 7p, and 4q.
Musolf AM, Moiz BA, Sun H, Pikielny CW, Bossé Y, Mandal D, de Andrade M, Gaba C, Yang P, Li Y, You M, Govindan R, Wilson RK, Kupert EY, Anderson MW, Schwartz AG, Pinney SM, Amos CI, Bailey-Wilson JE. Musolf AM, et al. Cancer Epidemiol Biomarkers Prev. 2020 Feb;29(2):434-442. doi: 10.1158/1055-9965.EPI-19-0887. Epub 2019 Dec 11. Cancer Epidemiol Biomarkers Prev. 2020. PMID: 31826912 Free PMC article.
Genomic medicine for undiagnosed diseases.
Wise AL, Manolio TA, Mensah GA, Peterson JF, Roden DM, Tamburro C, Williams MS, Green ED. Wise AL, et al. Lancet. 2019 Aug 10;394(10197):533-540. doi: 10.1016/S0140-6736(19)31274-7. Epub 2019 Aug 5. Lancet. 2019. PMID: 31395441 Free PMC article. Review.
Opportunities, resources, and techniques for implementing genomics in clinical care.
Manolio TA, Rowley R, Williams MS, Roden D, Ginsburg GS, Bult C, Chisholm RL, Deverka PA, McLeod HL, Mensah GA, Relling MV, Rodriguez LL, Tamburro C, Green ED. Manolio TA, et al. Lancet. 2019 Aug 10;394(10197):511-520. doi: 10.1016/S0140-6736(19)31140-7. Epub 2019 Aug 5. Lancet. 2019. PMID: 31395439 Free PMC article. Review.
Phenotype delineation of ZNF462 related syndrome.
Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Kruszka P, et al. Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361404 Free PMC article.
Treatment Strategies for Deficiency of Adenosine Deaminase 2.
Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, Romeo T, Barham B, Pinto-Patarroyo G, Toro C, Soldatos A, Zhou Q, Deuitch N, Aksentijevich I, Sheldon SL, Kelly S, Man A, Barron K, Hershfield M, Flegel WA, Kastner DL. Ombrello AK, et al. N Engl J Med. 2019 Apr 18;380(16):1582-1584. doi: 10.1056/NEJMc1801927. N Engl J Med. 2019. PMID: 30995379 Free PMC article. No abstract available.
Echocardiographic screening of 4107 Nigerian school children for rheumatic heart disease.
Ekure EN, Amadi C, Sokunbi O, Kalu N, Olusegun-Joseph A, Kushimo O, Hassan O, Ikebudu D, Onyia S, Onwudiwe C, Nwankwo V, Akinwunmi R, Awusa F, Akere Z, Dele-Salawu O, Ajayi E, Ale O, Muoneke D, Muenke M, Kruszka P, Beaton A, Sable C, Adeyemo A. Ekure EN, et al. Trop Med Int Health. 2019 Jun;24(6):757-765. doi: 10.1111/tmi.13235. Epub 2019 Apr 8. Trop Med Int Health. 2019. PMID: 30938017 Free PMC article.
Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
Bentley AR, Sung YJ, Brown MR, Winkler TW, Kraja AT, Ntalla I, Schwander K, Chasman DI, Lim E, Deng X, Guo X, Liu J, Lu Y, Cheng CY, Sim X, Vojinovic D, Huffman JE, Musani SK, Li C, Feitosa MF, Richard MA, Noordam R, Baker J, Chen G, Aschard H, Bartz TM, Ding J, Dorajoo R, Manning AK, Rankinen T, Smith AV, Tajuddin SM, Zhao W, Graff M, Alver M, Boissel M, Chai JF, Chen X, Divers J, Evangelou E, Gao C, Goel A, Hagemeijer Y, Harris SE, Hartwig FP, He M, Horimoto ARVR, Hsu FC, Hung YJ, Jackson AU, Kasturiratne A, Komulainen P, Kühnel B, Leander K, Lin KH, Luan J, Lyytikäinen LP, Matoba N, Nolte IM, Pietzner M, Prins B, Riaz M, Robino A, Said MA, Schupf N, Scott RA, Sofer T, Stancáková A, Takeuchi F, Tayo BO, van der Most PJ, Varga TV, Wang TD, Wang Y, Ware EB, Wen W, Xiang YB, Yanek LR, Zhang W, Zhao JH, Adeyemo A, Afaq S, Amin N, Amini M, Arking DE, Arzumanyan Z, Aung T, Ballantyne C, Barr RG, Bielak LF, Boerwinkle E, Bottinger EP, Broeckel U, Brown M, Cade BE, Campbell A, Canouil M, Charumathi S, Chen YI, Christensen K; COGENT-Kidney Consortium; Concas MP, Connell JM, de las Fuentes L, de Silva HJ, de Vries PS, Doumatey A, Duan Q, Eaton CB, Eppinga RN, Faul JD, Floyd JS, Forouhi NG… See abstract for full author list ➔ Bentley AR, et al. Nat Genet. 2019 Apr;51(4):636-648. doi: 10.1038/s41588-019-0378-y. Epub 2019 Mar 29. Nat Genet. 2019. PMID: 30926973 Free PMC article.
Cornelia de Lange syndrome in diverse populations.
Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. Dowsett L, et al. Am J Med Genet A. 2019 Feb;179(2):150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6. Am J Med Genet A. 2019. PMID: 30614194 Free PMC article.
Genetic history of Chad.
Shriner D, Rotimi CN. Shriner D, et al. Am J Phys Anthropol. 2018 Dec;167(4):804-812. doi: 10.1002/ajpa.23711. Epub 2018 Sep 27. Am J Phys Anthropol. 2018. PMID: 30259956 Free PMC article.
Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort.
Li J, Wen WX, Eklund M, Kvist A, Eriksson M, Christensen HN, Torstensson A, Bajalica-Lagercrantz S, Dunning AM, Decker B, Allen J, Luccarini C, Pooley K, Simard J, Dorling L, Easton DF, Teo SH, Hall P, Borg Å, Grönberg H, Czene K. Li J, et al. Int J Cancer. 2019 Mar 1;144(5):1195-1204. doi: 10.1002/ijc.31841. Epub 2018 Nov 9. Int J Cancer. 2019. PMID: 30175445 Free PMC article.
A proposed nosology of inborn errors of metabolism.
Ferreira CR, van Karnebeek CDM, Vockley J, Blau N. Ferreira CR, et al. Genet Med. 2019 Jan;21(1):102-106. doi: 10.1038/s41436-018-0022-8. Epub 2018 Jun 8. Genet Med. 2019. PMID: 29884839 Free PMC article.
Molecular testing in holoprosencephaly.
Kruszka P, Martinez AF, Muenke M. Kruszka P, et al. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):187-193. doi: 10.1002/ajmg.c.31617. Epub 2018 May 17. Am J Med Genet C Semin Med Genet. 2018. PMID: 29771000 Free PMC article.
Syndromes associated with holoprosencephaly.
Kruszka P, Muenke M. Kruszka P, et al. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):229-237. doi: 10.1002/ajmg.c.31620. Epub 2018 May 17. Am J Med Genet C Semin Med Genet. 2018. PMID: 29770994 Free PMC article.
Williams-Beuren syndrome in diverse populations.
Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M. Kruszka P, et al. Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672. Am J Med Genet A. 2018. PMID: 29681090 Free PMC article.
Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.
Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R, Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI, Sidransky E. Tayebi N, et al. Mol Genet Metab. 2017 Dec;122(4):198-208. doi: 10.1016/j.ymgme.2017.11.001. Epub 2017 Nov 21. Mol Genet Metab. 2017. PMID: 29173981 Free PMC article.
Prioritizing diversity in human genomics research.
Hindorff LA, Bonham VL, Brody LC, Ginoza MEC, Hutter CM, Manolio TA, Green ED. Hindorff LA, et al. Nat Rev Genet. 2018 Mar;19(3):175-185. doi: 10.1038/nrg.2017.89. Epub 2017 Nov 20. Nat Rev Genet. 2018. PMID: 29151588 Free PMC article. Review.
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, Santani A, Sarmady M, Rehm HL, Biesecker LG, Nickerson DA, Hutter CM, Garraway L, Muzny DM, Wagle N; NHGRI Clinical Sequencing Exploratory Research (CSER) Consortium. Sanghvi RV, et al. Genet Med. 2018 Aug;20(8):855-866. doi: 10.1038/gim.2017.192. Epub 2017 Nov 16. Genet Med. 2018. PMID: 29144510 Free PMC article.
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, Gunay-Aygun M; NISC Comparative Sequencing Program. Strongin A, et al. J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816. J Pediatr Gastroenterol Nutr. 2018. PMID: 29112083 Free PMC article. Clinical Trial.
Research Directions in Genetic Predispositions to Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis.
Manolio TA, Hutter CM, Avigan M, Cibotti R, Davis RL, Denny JC, Grenade L, Wheatley LM, Carrington MN, Chantratita W, Chung WH, Dalton AD, Hung SI, Lee MTM, Leeder JS, Lertora JJL, Mahasirimongkol S, McLeod HL, Mockenhaupt M, Pacanowski M, Phillips EJ, Pinheiro S, Pirmohamed M, Sung C, Suwankesawong W, Trepanier L, Tumminia SJ, Veenstra D, Yuliwulandari R, Shear NH. Manolio TA, et al. Clin Pharmacol Ther. 2018 Mar;103(3):390-394. doi: 10.1002/cpt.890. Epub 2017 Nov 6. Clin Pharmacol Ther. 2018. PMID: 29105735 Free PMC article. Review.
Noonan syndrome in diverse populations.
Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Kruszka P, et al. Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27. Am J Med Genet A. 2017. PMID: 28748642 Free PMC article.
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.
Xu X, Wang AQ, Latham LL, Celeste F, Ciccone C, Malicdan MC, Goldspiel B, Terse P, Cradock J, Yang N, Yorke S, McKew JC, Gahl WA, Huizing M, Carrillo N. Xu X, et al. Mol Genet Metab. 2017 Sep;122(1-2):126-134. doi: 10.1016/j.ymgme.2017.04.010. Epub 2017 Apr 26. Mol Genet Metab. 2017. PMID: 28641925 Free PMC article. Clinical Trial.
The clinical spectrum of Erdheim-Chester disease: an observational cohort study.
Estrada-Veras JI, O'Brien KJ, Boyd LC, Dave RH, Durham B, Xi L, Malayeri AA, Chen MY, Gardner PJ, Alvarado-Enriquez JR, Shah N, Abdel-Wahab O, Gochuico BR, Raffeld M, Jaffe ES, Gahl WA. Estrada-Veras JI, et al. Blood Adv. 2017 Feb 14;1(6):357-366. doi: 10.1182/bloodadvances.2016001784. Blood Adv. 2017. PMID: 28553668 Free PMC article.
Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.
Demirkaya E, Zhou Q, Smith CK, Ombrello MJ, Deuitch N, Tsai WL, Hoffmann P, Remmers EF, Takeuchi M, Park YH, Chae J, Barut K, Simsek D, Adrovic A, Sahin S, Caliskan S, Chandrasekharappa SC, Hasni SA, Ombrello AK, Gadina M, Kastner DL, Kaplan MJ, Kasapcopur O, Aksentijevich I. Demirkaya E, et al. Arthritis Rheumatol. 2017 Sep;69(9):1832-1839. doi: 10.1002/art.40158. Epub 2017 Jul 10. Arthritis Rheumatol. 2017. PMID: 28544690 Free PMC article.
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Vilboux T, Gahl WA, Gunay-Aygun M. Summers AC, et al. Am J Med Genet A. 2017 Jul;173(7):1796-1812. doi: 10.1002/ajmg.a.38272. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28497568 Free PMC article.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C. Manolio TA, et al. Cell. 2017 Mar 23;169(1):6-12. doi: 10.1016/j.cell.2017.03.005. Cell. 2017. PMID: 28340351 Free PMC article.
22q11.2 deletion syndrome in diverse populations.
Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. Kruszka P, et al. Am J Med Genet A. 2017 Apr;173(4):879-888. doi: 10.1002/ajmg.a.38199. Am J Med Genet A. 2017. PMID: 28328118 Free PMC article.
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M. Stephen J, et al. Hum Genet. 2017 Apr;136(4):399-408. doi: 10.1007/s00439-017-1765-z. Epub 2017 Feb 20. Hum Genet. 2017. PMID: 28220259 Free PMC article.
Defining personal utility in genomics: A Delphi study.
Kohler JN, Turbitt E, Lewis KL, Wilfond BS, Jamal L, Peay HL, Biesecker LG, Biesecker BB. Kohler JN, et al. Clin Genet. 2017 Sep;92(3):290-297. doi: 10.1111/cge.12998. Epub 2017 Apr 19. Clin Genet. 2017. PMID: 28218387 Free PMC article.
Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.
Takeuchi M, Mizuki N, Meguro A, Ombrello MJ, Kirino Y, Satorius C, Le J, Blake M, Erer B, Kawagoe T, Ustek D, Tugal-Tutkun I, Seyahi E, Ozyazgan Y, Sousa I, Davatchi F, Francisco V, Shahram F, Abdollahi BS, Nadji A, Shafiee NM, Ghaderibarmi F, Ohno S, Ueda A, Ishigatsubo Y, Gadina M, Oliveira SA, Gül A, Kastner DL, Remmers EF. Takeuchi M, et al. Nat Genet. 2017 Mar;49(3):438-443. doi: 10.1038/ng.3786. Epub 2017 Feb 6. Nat Genet. 2017. PMID: 28166214 Free PMC article.
A taxonomy of medical uncertainties in clinical genome sequencing.
Han PKJ, Umstead KL, Bernhardt BA, Green RC, Joffe S, Koenig B, Krantz I, Waterston LB, Biesecker LG, Biesecker BB. Han PKJ, et al. Genet Med. 2017 Aug;19(8):918-925. doi: 10.1038/gim.2016.212. Epub 2017 Jan 19. Genet Med. 2017. PMID: 28102863 Free PMC article.
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