% alzhub.org library filter
% Source: https://alzhub.org/research?journal=American+Journal+of+Human+Genetics
% 41 entries, in the order the page lists them. Built from alzhub.org's own records.
% 0 entries have no readable author in the source record and carry no author field.

@article{trpchevska2022-35580588,
  author  = {Trpchevska, N. and Freidin, M. B. and Broer, L. and Oosterloo, B. C. and Yao, S. and Zhou, Y. and Vona, B. and Bishop, C. and others},
  title   = {{Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss}},
  journal = {American journal of human genetics},
  year    = {2022},
  doi     = {10.1016/j.ajhg.2022.04.010},
  pmid    = {35580588},
  url     = {https://doi.org/10.1016/j.ajhg.2022.04.010}
}

@article{dumanski2016-27231129,
  author  = {Dumanski, J. P. and Lambert, J. C. and Rasi, C. and Giedraitis, V. and Davies, H. and Grenier-Boley, B. and Lindgren, C. M. and Campion, D. and others},
  title   = {{Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease}},
  journal = {American journal of human genetics},
  year    = {2016},
  doi     = {10.1016/j.ajhg.2016.05.014},
  pmid    = {27231129},
  url     = {https://doi.org/10.1016/j.ajhg.2016.05.014}
}

@article{campion1999-10441572,
  author  = {Campion, D. and Dumanchin, C. and Hannequin, D. and Dubois, B. and Belliard, S. and Puel, M. and Thomas-Anterion, C. and Michon, A. and others},
  title   = {{Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum}},
  journal = {American journal of human genetics},
  year    = {1999},
  doi     = {10.1086/302553},
  pmid    = {10441572},
  url     = {https://doi.org/10.1086/302553}
}

@article{quenez2026-42648288,
  author  = {Quenez, O. and Schramm, C. and Cassinari, K. and Nicolas, A. and Groeneveld, J. and Huguet, G. and Grenier-Boley, B. and Hulsman, M. and Walters, G. B. and de Rojas, I. and Rovelet-Lecrux, A. and Feuillette, S. and others},
  title   = {{Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk}},
  journal = {American Journal of Human Genetics},
  year    = {2026},
  doi     = {10.1016/j.ajhg.2026.07.013},
  pmid    = {42648288},
  url     = {https://doi.org/10.1016/j.ajhg.2026.07.013}
}

@article{webster2009-19361613,
  author  = {Webster, J. A. and Gibbs, JR. and Clarke, J. and Ray, M. and Zhang, W. and Holmans, P. and Rohrer, K. and Zhao, A. and others},
  title   = {{Genetic control of human brain transcript expression in Alzheimer disease}},
  journal = {American journal of human genetics},
  year    = {2009},
  doi     = {10.1016/j.ajhg.2009.03.011},
  pmid    = {19361613},
  url     = {https://doi.org/10.1016/j.ajhg.2009.03.011}
}

@article{li2002-11875758,
  author  = {Li, Y. J. and Scott, W. K. and Hedges, D. J. and Zhang, F. and Gaskell, P. C. and Nance, M. A. and Watts, R. L. and Hubble, J. P. and others},
  title   = {{Age at onset in two common neurodegenerative diseases is genetically controlled}},
  journal = {American journal of human genetics},
  year    = {2002},
  doi     = {10.1086/339815},
  pmid    = {11875758},
  url     = {https://doi.org/10.1086/339815}
}

@article{smith2012-22608501,
  author  = {Smith, K. R. and Damiano, J. and Franceschetti, S. and Carpenter, S. and Canafoglia, L. and Morbin, M. and Rossi, G. and Pareyson, D. and others},
  title   = {{Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage}},
  journal = {American journal of human genetics},
  year    = {2012},
  doi     = {10.1016/j.ajhg.2012.04.021},
  pmid    = {22608501},
  url     = {https://doi.org/10.1016/j.ajhg.2012.04.021}
}

@article{paloneva2002-12080485,
  author  = {Paloneva, J. and Manninen, T. and Christman, G. and Hovanes, K. and Mandelin, J. and Adolfsson, R. and Bianchin, M. and Bird, T. and others},
  title   = {{Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype}},
  journal = {American journal of human genetics},
  year    = {2002},
  doi     = {10.1086/342259},
  pmid    = {12080485},
  url     = {https://doi.org/10.1086/342259}
}

@article{lesage2016-26942284,
  author  = {Lesage, S. and Drouet, V. and Majounie, E. and Deramecourt, V. and Jacoupy, M. and Nicolas, A. and Cormier-Dequaire, F. and Hassoun, S. M. and others},
  title   = {{Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy}},
  journal = {American journal of human genetics},
  year    = {2016},
  doi     = {10.1016/j.ajhg.2016.01.014},
  pmid    = {26942284},
  url     = {https://doi.org/10.1016/j.ajhg.2016.01.014}
}

@article{zimprich2011-21763483,
  author  = {Zimprich, A. and Benet-Pagès, A. and Struhal, W. and Graf, E. and Eck, S. H. and Offman, M. N. and Haubenberger, D. and Spielberger, S. and others},
  title   = {{A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease}},
  journal = {American journal of human genetics},
  year    = {2011},
  doi     = {10.1016/j.ajhg.2011.06.008},
  pmid    = {21763483},
  url     = {https://doi.org/10.1016/j.ajhg.2011.06.008}
}

@article{daw2000-10631151,
  author  = {Daw, E. W. and Payami, H. and Nemens, E. J. and Nochlin, D. and Bird, T. D. and Schellenberg, G. D. and Wijsman, E. M.},
  title   = {{The number of trait loci in late-onset Alzheimer disease}},
  journal = {American journal of human genetics},
  year    = {2000},
  doi     = {10.1086/302710},
  pmid    = {10631151},
  url     = {https://doi.org/10.1086/302710}
}

@article{sun2026-42066773,
  author  = {Sun, X. and Mews, M. and Wheeler, N. R. and Benchek, P. and Gu, T. and Gomez, L. and Ray, N. and Reitz, C. and Naj, A. C. and Below, J. E. and Tosto, G. and Cornejo-Olivas, M. and others},
  title   = {{Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer disease}},
  journal = {American Journal of Human Genetics},
  year    = {2026},
  doi     = {10.1016/j.ajhg.2026.04.007},
  pmid    = {42066773},
  url     = {https://doi.org/10.1016/j.ajhg.2026.04.007}
}

@article{lu2017-29220677,
  author  = {Lu, Q. and Li, B. and Ou, D. and Erlendsdottir, M. and Powles, R. L. and Jiang, T. and Hu, Y. and Chang, D. and others},
  title   = {{A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics}},
  journal = {American journal of human genetics},
  year    = {2017},
  doi     = {10.1016/j.ajhg.2017.11.001},
  pmid    = {29220677},
  url     = {https://doi.org/10.1016/j.ajhg.2017.11.001}
}

@article{beecham2009-19118814,
  author  = {Beecham, G. W. and Martin, E. R. and Li, Y. J. and Slifer, M. A. and Gilbert, JR. and Haines, J. L. and Pericak-Vance, M. A.},
  title   = {{Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease}},
  journal = {American journal of human genetics},
  year    = {2009},
  doi     = {10.1016/j.ajhg.2008.12.008},
  pmid    = {19118814},
  url     = {https://doi.org/10.1016/j.ajhg.2008.12.008}
}

@article{liu2007-17564960,
  author  = {Liu, F. and Arias-Vásquez, A. and Sleegers, K. and Aulchenko, Y. S. and Kayser, M. and Sanchez-Juan, P. and Feng, B. J. and Bertoli-Avella, A. M. and others},
  title   = {{A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population}},
  journal = {American journal of human genetics},
  year    = {2007},
  doi     = {10.1086/518720},
  pmid    = {17564960},
  url     = {https://doi.org/10.1086/518720}
}

@article{martin2000-10869235,
  author  = {Martin, E. R. and Lai, E. H. and Gilbert, JR. and Rogala, A. R. and Afshari, A. J. and Riley, J. and Finch, K. L. and Stevens, J. F. and others},
  title   = {{SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease}},
  journal = {American journal of human genetics},
  year    = {2000},
  doi     = {10.1086/303003},
  pmid    = {10869235},
  url     = {https://doi.org/10.1086/303003}
}

@article{kobayashi2011-21683323,
  author  = {Kobayashi, H. and Abe, K. and Matsuura, T. and Ikeda, Y. and Hitomi, T. and Akechi, Y. and Habu, T. and Liu, W. and others},
  title   = {{Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement}},
  journal = {American journal of human genetics},
  year    = {2011},
  doi     = {10.1016/j.ajhg.2011.05.015},
  pmid    = {21683323},
  url     = {https://doi.org/10.1016/j.ajhg.2011.05.015}
}

@article{calderon2017-29106824,
  author  = {Calderon, D. and Bhaskar, A. and Knowles, D. A. and Golan, D. and Raj, T. and Fu, A. Q. and Pritchard, J. K.},
  title   = {{Inferring Relevant Cell Types for Complex Traits by Using Single-Cell Gene Expression}},
  journal = {American journal of human genetics},
  year    = {2017},
  doi     = {10.1016/j.ajhg.2017.09.009},
  pmid    = {29106824},
  url     = {https://doi.org/10.1016/j.ajhg.2017.09.009}
}

@article{wells2019-31564434,
  author  = {Wells, H. R. R. and Freidin, M. B. and Zainul Abidin, F. N. and Payton, A. and Dawes, P. and Munro, K. J. and Morton, C. C. and Moore, D. R. and others},
  title   = {{GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank}},
  journal = {American journal of human genetics},
  year    = {2019},
  doi     = {10.1016/j.ajhg.2019.09.008},
  pmid    = {31564434},
  url     = {https://doi.org/10.1016/j.ajhg.2019.09.008}
}

@article{alvarado2024-38181731,
  author  = {Alvarado, C. X. and Makarious, M. B. and Weller, C. A. and Vitale, D. and Koretsky, M. J. and Bandres-Ciga, S. and Iwaki, H. and Levine, K. and others},
  title   = {{omicSynth: An open multi-omic community resource for identifying druggable targets across neurodegenerative diseases}},
  journal = {American journal of human genetics},
  year    = {2024},
  doi     = {10.1016/j.ajhg.2023.12.006},
  pmid    = {38181731},
  url     = {https://doi.org/10.1016/j.ajhg.2023.12.006}
}

@article{theuns2006-16685645,
  author  = {Theuns, J. and Brouwers, N. and Engelborghs, S. and Sleegers, K. and Bogaerts, V. and Corsmit, E. and De Pooter, T. and van Duijn, C. M. and others},
  title   = {{Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease}},
  journal = {American journal of human genetics},
  year    = {2006},
  doi     = {10.1086/504044},
  pmid    = {16685645},
  url     = {https://doi.org/10.1086/504044}
}

@article{finckh2000-10631141,
  author  = {Finckh, U. and Müller-Thomsen, T. and Mann, U. and Eggers, C. and Marksteiner, J. and Meins, W. and Binetti, G. and Alberici, A. and others},
  title   = {{High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes}},
  journal = {American journal of human genetics},
  year    = {2000},
  doi     = {10.1086/302702},
  pmid    = {10631141},
  url     = {https://doi.org/10.1086/302702}
}

@article{reiner2012-22939635,
  author  = {Reiner, A. P. and Beleza, S. and Franceschini, N. and Auer, P. L. and Robinson, J. G. and Kooperberg, C. and Peters, U. and Tang, H.},
  title   = {{Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women}},
  journal = {American journal of human genetics},
  year    = {2012},
  doi     = {10.1016/j.ajhg.2012.07.023},
  pmid    = {22939635},
  url     = {https://doi.org/10.1016/j.ajhg.2012.07.023}
}

@article{bertram2008-18976728,
  author  = {Bertram, L. and Lange, C. and Mullin, K. and Parkinson, M. and Hsiao, M. and Hogan, M. F. and Schjeide, B. M. and Hooli, B. and others},
  title   = {{Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE}},
  journal = {American journal of human genetics},
  year    = {2008},
  doi     = {10.1016/j.ajhg.2008.10.008},
  pmid    = {18976728},
  url     = {https://doi.org/10.1016/j.ajhg.2008.10.008}
}

@article{tsai1994-8128961,
  author  = {Tsai, M. S. and Tangalos, E. G. and Petersen, R. C. and Smith, G. E. and Schaid, D. J. and Kokmen, E. and Ivnik, R. J. and Thibodeau, S. N.},
  title   = {{Apolipoprotein E: risk factor for Alzheimer disease}},
  journal = {American journal of human genetics},
  year    = {1994},
  pmid    = {8128961}
}

@article{li2006-17186461,
  author  = {Li, D. and Parks, S. B. and Kushner, J. D. and Nauman, D. and Burgess, D. and Ludwigsen, S. and Partain, J. and Nixon, R. R. and others},
  title   = {{Mutations of presenilin genes in dilated cardiomyopathy and heart failure}},
  journal = {American journal of human genetics},
  year    = {2006},
  doi     = {10.1086/509900},
  pmid    = {17186461},
  url     = {https://doi.org/10.1086/509900}
}

@article{pericakvance1991-2035524,
  author  = {Pericak-Vance, M. A. and Bebout, J. L. and Gaskell, P. C. and Yamaoka, L. H. and Hung, W. Y. and Alberts, M. J. and Walker, A. P. and Bartlett, R. J. and others},
  title   = {{Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage}},
  journal = {American journal of human genetics},
  year    = {1991},
  pmid    = {2035524}
}

@article{luningham2020-32961112,
  author  = {Luningham, J. M. and Chen, J. and Tang, S. and De Jager, P. L. and Bennett, D. A. and Buchman, A. S. and Yang, J.},
  title   = {{Bayesian Genome-wide TWAS Method to Leverage both cis- and trans-eQTL Information through Summary Statistics}},
  journal = {American journal of human genetics},
  year    = {2020},
  doi     = {10.1016/j.ajhg.2020.08.022},
  pmid    = {32961112},
  url     = {https://doi.org/10.1016/j.ajhg.2020.08.022}
}

@article{payami1996-8644745,
  author  = {Payami, H. and Zareparsi, S. and Montee, K. R. and Sexton, G. J. and Kaye, J. A. and Bird, T. D. and Yu, C. E. and Wijsman, E. M. and others},
  title   = {{Gender difference in apolipoprotein E-associated risk for familial Alzheimer disease: a possible clue to the higher incidence of Alzheimer disease in women}},
  journal = {American journal of human genetics},
  year    = {1996},
  pmid    = {8644745}
}

@article{tang1996-8644717,
  author  = {Tang, M. X. and Maestre, G. and Tsai, W. Y. and Liu, X. H. and Feng, L. and Chung, W. Y. and Chun, M. and Schofield, P. and others},
  title   = {{Relative risk of Alzheimer disease and age-at-onset distributions, based on APOE genotypes among elderly African Americans, Caucasians, and Hispanics in New York City}},
  journal = {American journal of human genetics},
  year    = {1996},
  pmid    = {8644717}
}

@article{scott2000-10712207,
  author  = {Scott, W. K. and Grubber, J. M. and Conneally, P. M. and Small, G. W. and Hulette, C. M. and Rosenberg, C. K. and Saunders, A. M. and Roses, A. D. and others},
  title   = {{Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity}},
  journal = {American journal of human genetics},
  year    = {2000},
  doi     = {10.1086/302828},
  pmid    = {10712207},
  url     = {https://doi.org/10.1086/302828}
}

@article{fullerton2000-10986041,
  author  = {Fullerton, S. M. and Clark, A. G. and Weiss, K. M. and Nickerson, D. A. and Taylor, S. L. and Stengârd, J. H. and Salomaa, V. and Vartiainen, E. and others},
  title   = {{Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism}},
  journal = {American journal of human genetics},
  year    = {2000},
  doi     = {10.1086/303070},
  pmid    = {10986041},
  url     = {https://doi.org/10.1086/303070}
}

@article{hu2024-39079537,
  author  = {Hu, Tingyang and Parrish, Randy L and Dai, Qile and Buchman, Aron S and Tasaki, Shinya and Bennett, David A and Seyfried, Nicholas T and Epstein, Michael P and others},
  title   = {{Omnibus proteome-wide association study identifies 43 risk genes for Alzheimer disease dementia}},
  journal = {American journal of human genetics},
  year    = {2024},
  doi     = {10.1016/j.ajhg.2024.07.001},
  pmid    = {39079537},
  url     = {https://doi.org/10.1016/j.ajhg.2024.07.001}
}

@article{fang2025-39793580,
  author  = {Fang, Lei and Xue, Haoran and Lin, Zhaotong and Pan, Wei},
  title   = {{Multivariate proteome-wide association study to identify causal proteins for Alzheimer disease}},
  journal = {American journal of human genetics},
  year    = {2025},
  doi     = {10.1016/j.ajhg.2024.12.010},
  pmid    = {39793580},
  url     = {https://doi.org/10.1016/j.ajhg.2024.12.010}
}

@article{tian2019-31178126,
  author  = {Tian, Y. and Wang, J. L. and Huang, W. and Zeng, S. and Jiao, B. and Liu, Z. and Chen, Z. and Li, Y. and others},
  title   = {{Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders}},
  journal = {American journal of human genetics},
  year    = {2019},
  doi     = {10.1016/j.ajhg.2019.05.013},
  pmid    = {31178126},
  url     = {https://doi.org/10.1016/j.ajhg.2019.05.013}
}

@article{holt1990-2137962,
  author  = {Holt, I. J. and Harding, A. E. and Petty, R. K. and Morgan-Hughes, J. A.},
  title   = {{A new mitochondrial disease associated with mitochondrial DNA heteroplasmy}},
  journal = {American journal of human genetics},
  year    = {1990},
  pmid    = {2137962}
}

@article{korenberg1992-1531166,
  author  = {Korenberg, JR. and Bradley, C. and Disteche, C. M.},
  title   = {{Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis}},
  journal = {American journal of human genetics},
  year    = {1992},
  pmid    = {1531166}
}

@article{bickeboller1997-9012418,
  author  = {Bickeböller, H. and Campion, D. and Brice, A. and Amouyel, P. and Hannequin, D. and Didierjean, O. and Penet, C. and Martin, C. and others},
  title   = {{Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex}},
  journal = {American journal of human genetics},
  year    = {1997},
  pmid    = {9012418}
}

@article{schellenberg1991-1679288,
  author  = {Schellenberg, G. D. and Anderson, L. and O'dahl, S. and Wisjman, E. M. and Sadovnick, A. D. and Ball, M. J. and Larson, E. B. and Kukull, W. A. and others},
  title   = {{APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease}},
  journal = {American journal of human genetics},
  year    = {1991},
  pmid    = {1679288}
}

@article{kamino1992-1415269,
  author  = {Kamino, K. and Orr, H. T. and Payami, H. and Wijsman, E. M. and Alonso, M. E. and Pulst, S. M. and Anderson, L. and O'dahl, S. and others},
  title   = {{Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region}},
  journal = {American journal of human genetics},
  year    = {1992},
  pmid    = {1415269}
}

@article{yu1992-1642227,
  author  = {Yu, J. and Hartz, J. and Xu, Y. and Gemmill, R. M. and Korenberg, JR. and Patterson, D. and Kao, F. T.},
  title   = {{Isolation, characterization, and regional mapping of microclones from a human chromosome 21 microdissection library}},
  journal = {American journal of human genetics},
  year    = {1992},
  pmid    = {1642227}
}