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D

Danny E. Miller

Weill Cornell Medicine

31H指数
197论文数
7.7K被引数
收录论文 36
发表时间
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GREGoR: accelerating genomics for rare diseasesGREGoR：加速罕见病基因组学研究
errNature
IF48.5
err2025-11-12
err0
PREAI
errMoez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery
err分享
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Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya为肯尼亚II型黏多糖贮积症患者提供基因检测和咨询的挑战与机遇
errOrphanet Journal of Rare Diseases
IF3.5
err2025-11-05
err0
errOAAI
errLucy N. Wainaina Mungai; Charles Njeru; Allan Njoroge; Michuki Maina; Syokau Ilovi; Ruth W. Nduati; Dalton Wamalwa; Beatrice Odongkara; Danny E. Miller
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Long-read DNA sequencing resolves a rare case of alloimmune hemolysis mimicking autoimmune hemolysis长读长DNA测序解决了一例模拟自身免疫性溶血性贫血的 alloimmune hemolysis 的罕见病例。
errTransfusion
IF2
err2025-09-17
err0
PREAI
errHui Xiao Chao; Thomas Ma; Livia Hegerova; Theresa Nester; Nina Sen; LaySee Er; Samantha Harris; Tina Lockwood; Jillian G. Buchan; Kerry W. Lannert; Joseph Gasper; Joy Goffena; Miranda P. G. Zalusky; Sophie H. R. Storz; Celina Montemayor-Garcia; Monica B. Pagano; Jill M. Johnsen; Sandhya R. Panch; Danny E. Miller
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Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells靶向成人聚葡萄糖体病中一种致病性内含子变异的剪接调控反义寡核苷酸，能够纠正错剪接并在患者细胞中恢复酶活性。
errNUCLEIC ACIDS RESEARCH
IF13.1
err2025-07-22
err0
errOAAI
errThomas, Ria; Miyoshi, Emily; Akman, Hasan O.; Storz, Sophie H. R.; Goffena, Joy; Pytte, Julia; Miller, Danny E.; Skourti-Stathaki, Konstantina; Crooke, Stanley T.
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Genetic and epigenetic contributors and mimickers of phenotypic hypoxic-ischemic encephalopathy (HIE)遗传和表观遗传因素及其模拟物对表型性缺氧缺血性脑病（HIE）的贡献
errSeminars in Perinatology
IF3.2
err2025-07-02
err0
PREAI
errUlrike Mietzsch; Janessa B. Law; Basel Thayyil; Danny E. Miller; Thomas R. Wood; Niranjana Natarajan; Khorshid Mohammad
err分享
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Long-read sequencing is required for precision diagnosis of incontinentia pigmenti长读长测序技术对于色素失禁症的精准诊断是必需的。
errHuman Genetics and Genomics Advances
IF3.6
err2025-06-12
err0
errOAAI
errMonica H. Wojcik; Robin D. Clark; Abdallah F. Elias; Casie A. Genetti; Jill A. Madden; Dana Simpson; Linda Golkar; Miranda P.G. Zalusky; Angela L. Miller; Araceli Rodriguez; Joy Goffena; Camille A. Dash; Nikhita Damaraju; Sophia B. Gibson; Sophie H.R. Storz; Zachary B. Anderson; Jonas A. Gustafson; Isabelle Thiffault; Emily G. Farrow; Tomi Pastinen; Danny E. Miller
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Bidirectional disruption of GNAS transcripts causes broad methylation defects in pseudohypoparathyroidism type 1BGNAS转录本的双向破坏导致假性甲状旁腺功能减退症1B型出现广泛的甲基化缺陷
errPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
err2025-04-18
err0
errOAAI
errIwasaki, Yorihiro; Reyes, Monica; Ryabets-Lienhard, Anna; Gales, Barbara; Linglart, Agnes; Miller, Danny E.; Salusky, Isidro B.; Bastepe, Murat; Juppner, Harald
err分享
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Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes
errJOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
err2025-03-01
err0
errOAAI
errPaschal, Cate R.; Zalusky, Miranda P. G.; Beck, Anita E.; Gillentine, Madelyn A.; Narayanan, Jaya; Damaraju, Nikhita; Goffena, Joy; Storz, Sophie H. R.; Miller, Danny E.
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Patterns of crossover distribution in Drosophila mauritiana necessitate a re-thinking of the centromere effect on crossing over
errGENETICS
IF5.1
err2025-03-01
err0
PREAI
errHawley, R. Scott; Price, Andrew; Li, Hua; Jagannathan, Madhav; Staber, Cynthia; Hughes, Stacie E.; Williams, Stefanie; Perera, Anoja; Egidy, Rhonda R.; Lawlor, Amanda; Miller, Danny E.; Blumenstiel, Justin P.
err分享
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SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err1
errOAAI
errWenger, Tara L.; Scott, Abbey; Kruidenier, Lukas; Sikes, Megan; Keefe, Alexandra; Buckingham, Kati J.; Marvin, Colby T.; Shively, Kathryn M.; Bacus, Tamara; Sommerland, Olivia M.; Anderson, Kailyn; Gildersleeve, Heidi; Davis, Chayna J.; Love-Nichols, Jamie; Macduffie, Katherine E.; Miller, Danny E.; Yu, Joon-Ho; Snook, Amy; Johnson, Britt; Veenstra, David L.; Parish-Morris, Julia; Mcwalter, Kirsty; Retterer, Kyle; Copenheaver, Deborah; Friedman, Bethany; Juusola, Jane; Ryan, Erin; Varga, Renee; Doherty, Daniel A.; Dipple, Katrina; Chong, Jessica X.; Kruszka, Paul; Bamshad, Michael J.
err分享
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CFAP47 is Implicated in X-Linked Polycystic Kidney DiseaseCFAP47与X连锁多囊肾病有关
errKIDNEY INTERNATIONAL REPORTS
IF5.7
err2024-12-01
err0
errOAAI
errMori, Takayasu; Fujimaru, Takuya; Liu, Chunyu; Patterson, Karynne; Yamamoto, Kouhei; Suzuki, Takefumi; Chiga, Motoko; Sekine, Akinari; Ubara, Yoshifumi; Miller, Danny E.; Zalusky, Miranda P. G.; Mandai, Shintaro; Ando, Fumiaki; Mori, Yutaro; Kikuchi, Hiroaki; Susa, Koichiro; Univ Washington Ctr Rare Dis Res, Jessica X.; Chong, Jessica X.; Bamshad, Michael J.; Tan, Yue-Qiu; Zhang, Feng; Uchida, Shinichi; Sohara, Eisei
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High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation对来自1000基因组项目的样品进行高覆盖纳米孔测序，以建立人类遗传变异的综合目录
errGENOME RESEARCH
IF5.5
err2024-10-02
err7
PREAI
errGustafson, Jonas A.; Gibson, Sophia B.; Damaraju, Nikhita; Zalusky, Miranda P. G.; Hoekzema, Kendra; Twesigomwe, David; Yang, Lei; Snead, Anthony A.; Richmond, Phillip A.; De Coster, Wouter; Olson, Nathan D.; Guarracino, Andrea; Li, Qiuhui; Miller, Angela L.; Goffena, Joy; Anderson, Zachary B.; Storz, Sophie H. R.; Ward, Sydney A.; Sinha, Maisha; Gonzaga-Jauregui, Claudia; Clarke, Wayne E.; Basile, Anna O.; Corvelo, Andre; Reeves, Catherine; Helland, Adrienne; Musunuri, Rajeeva Lochan; Revsine, Mahler; Patterson, Karynne E.; Paschal, Cate R.; Zakarian, Christina; Goodwin, Sara; Jensen, Tanner D.; Robb, Esther; McCombie, William Richard; Sedlazeck, Fritz J.; Zook, Justin M.; Montgomery, Stephen B.; Garrison, Erik; Kolmogorov, Mikhail; Schatz, Michael C.; McLaughlin Jr, Richard N.; Dashnow, Harriet; Zody, Michael C.; Loose, Matt; Jain, Miten; Eichler, Evan E.; Miller, Danny E.
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Clinicopathologic Characterization of 2 Individuals With TBK1 Variants-1 Novel Splice Variant, 2 Proteinopathies A Case Series
errNEUROLOGY-GENETICS
IF3.7
err2024-08-01
err0
errOAAI
errDomoto-Reilly, Kimiko; Distad, B. Jane; Miller, Danny E.; Lin, Yi-Han; Ivanick, David; Warren, Andrew S.; Jayadev, Suman; Latimer, Caitlin S.
err分享
err收藏
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-04-11
err2
errOAAI
errFleming, Andrew; Galey, Miranda; Briggs, Lizi; Edwards, Matthew; Hogg, Claire; John, Shibu; Wilkinson, Sam; Quinn, Ellie; Rai, Ranjit; Burgoyne, Tom; Rogers, Andy; Patel, Mitali P.; Griffin, Paul; Muller, Steven; Carr, Siobhan B.; Loebinger, Michael R.; Lucas, Jane S.; Shah, Anand; Jose, Ricardo; Mitchison, Hannah M.; Shoemark, Amelia; Miller, Danny E.; Morris-Rosendahl, Deborah J.
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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-04-01
err2
errOAAI
errMullegama, Sureni V.; Kiernan, Kaitlyn A.; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T.; Engleman, Kendra; Rush, Eric T.; Blocker, Karli; Dipple, Katrina M.; Fettig, Veronica M.; Hare, Heather; Glass, Ian; Grange, Dorothy K.; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E.; Thies, Jenny; Merritt II, J. Lawrence; Muller II, Eric; Osmond, Matthew; Sawyer, Sarah L.; Slaugh, Rachel; Hickey, Rachel E.; Wolf, Barry; Choudhary, Sanjeev; Simonovic, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M.; Morrow, Michelle M.; Monaghan, Kristin G.; Yang, Jun; Juusola, Jane
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A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development
errNATURE COMMUNICATIONS
IF15.7
err2024-01-02
err2
errOAAI
errWilderman, Andrea; D'haene, Eva; Baetens, Machteld; Yankee, Tara N.; Winchester, Emma Wentworth; Glidden, Nicole; Roets, Ellen; Van Dorpe, Jo; Janssens, Sandra; Miller, Danny E.; Galey, Miranda; Brown, Kari M.; Stottmann, Rolf W.; Vergult, Sarah; Weaver, K. Nicole; Brugmann, Samantha A.; Cox, Timothy C.; Cotney, Justin
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Advances in the discovery and analyses of human tandem repeats
errEMERGING TOPICS IN LIFE SCIENCES
IF3.3
err2023-10-31
err9
errOAAI
errChaisson, Mark J. P.; Sulovari, Arvis; Valdmanis, Paul N.; Miller, Danny E.; Eichler, Evan E.
err分享
err收藏
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A
errNEUROLOGY-GENETICS
IF3.7
err2023-10-01
err2
errOAAI
errStergachis, Andrew B.; Blue, Elizabeth E.; Gillentine, Madelyn A.; Wang, Lee-Kai; Schwarze, Ulrike; Cortes, Adriana Sedeno; Ranchalis, Jane; Allworth, Aimee; Bland, Austin E.; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B.; Glass, Ian; Horike-Pyne, Martha; Huang, Alden Y.; Khan, Alyna T.; Leppig, Kathleen A.; Miller, Danny E.; Mirzaa, Ghayda; Parhin, Azma; Raskind, Wendy H.; Rosenthal, Elisabeth A.; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P.; Tran, Thao T.; Wener, Mark H.; Byers, Peter H. H.; Nelson, Stanley F.; Bamshad, Michael J.; Dipple, Katrina M.; Jarvik, Gail P.; Hoppins, Suzanne; Hisama, Fuki M.
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Characteristics, Genetic Testing, and Diagnoses of Infants with Neonatal Encephalopathy Not Due to Hypoxic Ischemic Encephalopathy: A Cohort Study
errJOURNAL OF PEDIATRICS
IF3.5
err2023-09-01
err4
PREAI
errLenahan, Arthur; Mietzsch, Ulrike; Wood, Thomas R.; Callahan, Katharine Press; Weiss, Elliott M.; Miller, Danny E.; German, Kendell; Natarajan, Niranjana; Puia-Dumitrescu, Mihai; Esposito, Valentine; Kolnik, Sarah; Law, Janessa B.
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Beyond the exome: What's next in diagnostic testing for Mendelian conditions
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-08-01
err46
errOAAI
errWojcik, Monica H.; Reuter, Chloe M.; Marwaha, Shruti; Mahmoud, Medhat; Duyzend, Michael H.; Barseghyan, Hayk; Yuan, Bo; Boone, Philip M.; Groopman, Emily E.; Delot, Emmanuele C.; Jain, Deepti; Starita, Lea M.; Talkowski, Michael; Montgomery, Stephen B.; Bamshad, MichaelJ.; Chong, Jessica X.; Wheeler, Matthew T.; Berger, Seth I.; O'Donnell-Luria, Anne; Sedlazeck, Fritz J.; Miller, Danny E.; Sanchis-Juan, A.
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研究方向

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合作期刊
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