Literature DB >> 31269367

Genetic Variation, Comparative Genomics, and the Diagnosis of Disease.

Evan E Eichler1.   

Abstract

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Year:  2019        PMID: 31269367      PMCID: PMC6681822          DOI: 10.1056/NEJMra1809315

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  60 in total

1.  Initial sequencing and analysis of the human genome.

Authors:  E S Lander; L M Linton; B Birren; C Nusbaum; M C Zody; J Baldwin; K Devon; K Dewar; M Doyle; W FitzHugh; R Funke; D Gage; K Harris; A Heaford; J Howland; L Kann; J Lehoczky; R LeVine; P McEwan; K McKernan; J Meldrim; J P Mesirov; C Miranda; W Morris; J Naylor; C Raymond; M Rosetti; R Santos; A Sheridan; C Sougnez; Y Stange-Thomann; N Stojanovic; A Subramanian; D Wyman; J Rogers; J Sulston; R Ainscough; S Beck; D Bentley; J Burton; C Clee; N Carter; A Coulson; R Deadman; P Deloukas; A Dunham; I Dunham; R Durbin; L French; D Grafham; S Gregory; T Hubbard; S Humphray; A Hunt; M Jones; C Lloyd; A McMurray; L Matthews; S Mercer; S Milne; J C Mullikin; A Mungall; R Plumb; M Ross; R Shownkeen; S Sims; R H Waterston; R K Wilson; L W Hillier; J D McPherson; M A Marra; E R Mardis; L A Fulton; A T Chinwalla; K H Pepin; W R Gish; S L Chissoe; M C Wendl; K D Delehaunty; T L Miner; A Delehaunty; J B Kramer; L L Cook; R S Fulton; D L Johnson; P J Minx; S W Clifton; T Hawkins; E Branscomb; P Predki; P Richardson; S Wenning; T Slezak; N Doggett; J F Cheng; A Olsen; S Lucas; C Elkin; E Uberbacher; M Frazier; R A Gibbs; D M Muzny; S E Scherer; J B Bouck; E J Sodergren; K C Worley; C M Rives; J H Gorrell; M L Metzker; S L Naylor; R S Kucherlapati; D L Nelson; G M Weinstock; Y Sakaki; A Fujiyama; M Hattori; T Yada; A Toyoda; T Itoh; C Kawagoe; H Watanabe; Y Totoki; T Taylor; J Weissenbach; R Heilig; W Saurin; F Artiguenave; P Brottier; T Bruls; E Pelletier; C Robert; P Wincker; D R Smith; L Doucette-Stamm; M Rubenfield; K Weinstock; H M Lee; J Dubois; A Rosenthal; M Platzer; G Nyakatura; S Taudien; A Rump; H Yang; J Yu; J Wang; G Huang; J Gu; L Hood; L Rowen; A Madan; S Qin; R W Davis; N A Federspiel; A P Abola; M J Proctor; R M Myers; J Schmutz; M Dickson; J Grimwood; D R Cox; M V Olson; R Kaul; C Raymond; N Shimizu; K Kawasaki; S Minoshima; G A Evans; M Athanasiou; R Schultz; B A Roe; F Chen; H Pan; J Ramser; H Lehrach; R Reinhardt; W R McCombie; M de la Bastide; N Dedhia; H Blöcker; K Hornischer; G Nordsiek; R Agarwala; L Aravind; J A Bailey; A Bateman; S Batzoglou; E Birney; P Bork; D G Brown; C B Burge; L Cerutti; H C Chen; D Church; M Clamp; R R Copley; T Doerks; S R Eddy; E E Eichler; T S Furey; J Galagan; J G Gilbert; C Harmon; Y Hayashizaki; D Haussler; H Hermjakob; K Hokamp; W Jang; L S Johnson; T A Jones; S Kasif; A Kaspryzk; S Kennedy; W J Kent; P Kitts; E V Koonin; I Korf; D Kulp; D Lancet; T M Lowe; A McLysaght; T Mikkelsen; J V Moran; N Mulder; V J Pollara; C P Ponting; G Schuler; J Schultz; G Slater; A F Smit; E Stupka; J Szustakowki; D Thierry-Mieg; J Thierry-Mieg; L Wagner; J Wallis; R Wheeler; A Williams; Y I Wolf; K H Wolfe; S P Yang; R F Yeh; F Collins; M S Guyer; J Peterson; A Felsenfeld; K A Wetterstrand; A Patrinos; M J Morgan; P de Jong; J J Catanese; K Osoegawa; H Shizuya; S Choi; Y J Chen; J Szustakowki
Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

2.  Detection of large-scale variation in the human genome.

Authors:  A John Iafrate; Lars Feuk; Miguel N Rivera; Marc L Listewnik; Patricia K Donahoe; Ying Qi; Stephen W Scherer; Charles Lee
Journal:  Nat Genet       Date:  2004-08-01       Impact factor: 38.330

3.  Segmental duplications and copy-number variation in the human genome.

Authors:  Andrew J Sharp; Devin P Locke; Sean D McGrath; Ze Cheng; Jeffrey A Bailey; Rhea U Vallente; Lisa M Pertz; Royden A Clark; Stuart Schwartz; Rick Segraves; Vanessa V Oseroff; Donna G Albertson; Daniel Pinkel; Evan E Eichler
Journal:  Am J Hum Genet       Date:  2005-05-25       Impact factor: 11.025

4.  A high-resolution survey of deletion polymorphism in the human genome.

Authors:  Donald F Conrad; T Daniel Andrews; Nigel P Carter; Matthew E Hurles; Jonathan K Pritchard
Journal:  Nat Genet       Date:  2005-12-04       Impact factor: 38.330

5.  Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Authors:  Andrew J Sharp; Sierra Hansen; Rebecca R Selzer; Ze Cheng; Regina Regan; Jane A Hurst; Helen Stewart; Sue M Price; Edward Blair; Raoul C Hennekam; Carrie A Fitzpatrick; Rick Segraves; Todd A Richmond; Cheryl Guiver; Donna G Albertson; Daniel Pinkel; Peggy S Eis; Stuart Schwartz; Samantha J L Knight; Evan E Eichler
Journal:  Nat Genet       Date:  2006-08-13       Impact factor: 38.330

Review 6.  The molecular basis of variation in human color vision.

Authors:  S S Deeb
Journal:  Clin Genet       Date:  2005-05       Impact factor: 4.438

7.  Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype.

Authors:  T Hayashi; A G Motulsky; S S Deeb
Journal:  Nat Genet       Date:  1999-05       Impact factor: 38.330

8.  Strong association of de novo copy number mutations with autism.

Authors:  Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal:  Science       Date:  2007-03-15       Impact factor: 47.728

9.  Paired-end mapping reveals extensive structural variation in the human genome.

Authors:  Jan O Korbel; Alexander Eckehart Urban; Jason P Affourtit; Brian Godwin; Fabian Grubert; Jan Fredrik Simons; Philip M Kim; Dean Palejev; Nicholas J Carriero; Lei Du; Bruce E Taillon; Zhoutao Chen; Andrea Tanzer; A C Eugenia Saunders; Jianxiang Chi; Fengtang Yang; Nigel P Carter; Matthew E Hurles; Sherman M Weissman; Timothy T Harkins; Mark B Gerstein; Michael Egholm; Michael Snyder
Journal:  Science       Date:  2007-09-27       Impact factor: 47.728

10.  Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

Authors:  Jeffrey A Bailey; Amy M Yavor; Luigi Viggiano; Doriana Misceo; Juliann E Horvath; Nicoletta Archidiacono; Stuart Schwartz; Mariano Rocchi; Evan E Eichler
Journal:  Am J Hum Genet       Date:  2001-11-30       Impact factor: 11.025

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  35 in total

Review 1.  mRatBN7.2: familiar and unfamiliar features of a new rat genome reference assembly.

Authors:  Tristan V de Jong; Hao Chen; Wesley A Brashear; Kelli J Kochan; Andrew E Hillhouse; Yaming Zhu; Isha S Dhande; Elizabeth A Hudson; Mary H Sumlut; Melissa L Smith; Theodore S Kalbfleisch; Peter A Doris
Journal:  Physiol Genomics       Date:  2022-05-11       Impact factor: 4.297

2.  Ancestry adjustment improves genome-wide estimates of regional intolerance.

Authors:  Tristan J Hayeck; Nicholas Stong; Evan Baugh; Ryan Dhindsa; Tychele N Turner; Ayan Malakar; Timothy L Mosbruger; Grace Tzun-Wen Shaw; Yuncheng Duan; Iuliana Ionita-Laza; David Goldstein; Andrew S Allen
Journal:  Genetics       Date:  2022-05-31       Impact factor: 4.402

Review 3.  An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.

Authors:  Marie Saitou; Omer Gokcumen
Journal:  J Mol Evol       Date:  2019-09-14       Impact factor: 2.395

Review 4.  Cognitive Genomics: Recent Advances and Current Challenges.

Authors:  Joan Fitzgerald; Derek W Morris; Gary Donohoe
Journal:  Curr Psychiatry Rep       Date:  2020-01-10       Impact factor: 5.285

5.  Targeted long-read sequencing identifies missing disease-causing variation.

Authors:  Danny E Miller; Arvis Sulovari; Tianyun Wang; Hailey Loucks; Kendra Hoekzema; Katherine M Munson; Alexandra P Lewis; Edith P Almanza Fuerte; Catherine R Paschal; Tom Walsh; Jenny Thies; James T Bennett; Ian Glass; Katrina M Dipple; Karynne Patterson; Emily S Bonkowski; Zoe Nelson; Audrey Squire; Megan Sikes; Erika Beckman; Robin L Bennett; Dawn Earl; Winston Lee; Rando Allikmets; Seth J Perlman; Penny Chow; Anne V Hing; Tara L Wenger; Margaret P Adam; Angela Sun; Christina Lam; Irene Chang; Xue Zou; Stephanie L Austin; Erin Huggins; Alexias Safi; Apoorva K Iyengar; Timothy E Reddy; William H Majoros; Andrew S Allen; Gregory E Crawford; Priya S Kishnani; Mary-Claire King; Tim Cherry; Jessica X Chong; Michael J Bamshad; Deborah A Nickerson; Heather C Mefford; Dan Doherty; Evan E Eichler
Journal:  Am J Hum Genet       Date:  2021-07-02       Impact factor: 11.025

6.  Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.

Authors:  Xuefang Zhao; Ryan L Collins; Wan-Ping Lee; Alexandra M Weber; Yukyung Jun; Qihui Zhu; Ben Weisburd; Yongqing Huang; Peter A Audano; Harold Wang; Mark Walker; Chelsea Lowther; Jack Fu; Mark B Gerstein; Scott E Devine; Tobias Marschall; Jan O Korbel; Evan E Eichler; Mark J P Chaisson; Charles Lee; Ryan E Mills; Harrison Brand; Michael E Talkowski
Journal:  Am J Hum Genet       Date:  2021-03-30       Impact factor: 11.025

7.  Familial thrombocytopenia: The long and short of it.

Authors:  Lauren Murphy; Adam J Mead
Journal:  J Exp Med       Date:  2021-05-20       Impact factor: 14.307

Review 8.  Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

Authors:  Carmen Espinós; Peter Ferenci
Journal:  JHEP Rep       Date:  2020-04-18

9.  Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.

Authors:  Thomas J Nicholas; Najla Al-Sweel; Andrew Farrell; Rong Mao; Pinar Bayrak-Toydemir; Christine E Miller; Dawn Bentley; Rachel Palmquist; Barry Moore; Edgar J Hernandez; Michael J Cormier; Eric Fredrickson; Katherine Noble; Shawn Rynearson; Carson Holt; Mary Anne Karren; Joshua L Bonkowsky; Martin Tristani-Firouzi; Mark Yandell; Gabor Marth; Aaron R Quinlan; Luca Brunelli; Reha M Toydemir; Brian J Shayota; John C Carey; Steven E Boyden; Sabrina Malone Jenkins
Journal:  Mol Genet Genomic Med       Date:  2022-02-04       Impact factor: 2.183

10.  Precise breakpoint detection in a patient with 9p- syndrome.

Authors:  Jeffrey Ng; Eleanor Sams; Dustin Baldridge; Milinn Kremitzki; Daniel J Wegner; Tina Lindsay; Robert Fulton; F Sessions Cole; Tychele N Turner
Journal:  Cold Spring Harb Mol Case Stud       Date:  2020-06-12
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