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D

Danny E. Miller

Weill Cornell Medicine

31H-index
197Paper Count
7.7KCitation Count
Published Papers 36
Publication Date
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GREGoR: accelerating genomics for rare diseases
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
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errSave
Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya
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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errSave
Long-read DNA sequencing resolves a rare case of alloimmune hemolysis mimicking autoimmune hemolysis
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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errSave
Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells
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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errSave
Genetic and epigenetic contributors and mimickers of phenotypic hypoxic-ischemic encephalopathy (HIE)
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
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errSave
Long-read sequencing is required for precision diagnosis of incontinentia pigmenti
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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errSave
Bidirectional disruption of GNAS transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B
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
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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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errSave
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.
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errSave
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.
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errSave
CFAP47 is Implicated in X-Linked Polycystic Kidney Disease
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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errSave
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
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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errSave
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.
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errSave
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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errSave
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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errSave
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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errSave
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.
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errSave
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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errSave
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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errSave
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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errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
E
Evan E. Eichler
H-index: 191 · Papers: 864
J
James R. Lupski
H-index: 144 · Papers: 1.1K
D
Deborah A. Nickerson
H-index: 120 · Papers: 675
C
Corbin D. Jones
H-index: 110 · Papers: 360
M
Mary‐Claire King
H-index: 109 · Papers: 475
View more