Literature DB >> 33568830

How the human genome transformed study of rare diseases.

Fowzan S Alkuraya.   

Abstract

Entities:  

Keywords:  Genetics; Genomics; History; Medical research

Mesh:

Year:  2021        PMID: 33568830     DOI: 10.1038/d41586-021-00294-7

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


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  12 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

Review 2.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Authors:  Jessica X Chong; Kati J Buckingham; Shalini N Jhangiani; Corinne Boehm; Nara Sobreira; Joshua D Smith; Tanya M Harrell; Margaret J McMillin; Wojciech Wiszniewski; Tomasz Gambin; Zeynep H Coban Akdemir; Kimberly Doheny; Alan F Scott; Dimitri Avramopoulos; Aravinda Chakravarti; Julie Hoover-Fong; Debra Mathews; P Dane Witmer; Hua Ling; Kurt Hetrick; Lee Watkins; Karynne E Patterson; Frederic Reinier; Elizabeth Blue; Donna Muzny; Martin Kircher; Kaya Bilguvar; Francesc López-Giráldez; V Reid Sutton; Holly K Tabor; Suzanne M Leal; Murat Gunel; Shrikant Mane; Richard A Gibbs; Eric Boerwinkle; Ada Hamosh; Jay Shendure; James R Lupski; Richard P Lifton; David Valle; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2015-07-09       Impact factor: 11.025

3.  Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:  Dorota Monies; Mohammed Abouelhoda; Mirna Assoum; Nabil Moghrabi; Rafiullah Rafiullah; Naif Almontashiri; Mohammed Alowain; Hamad Alzaidan; Moeen Alsayed; Shazia Subhani; Edward Cupler; Maha Faden; Amal Alhashem; Alya Qari; Aziza Chedrawi; Hisham Aldhalaan; Wesam Kurdi; Sameena Khan; Zuhair Rahbeeni; Maha Alotaibi; Ewa Goljan; Hadeel Elbardisy; Mohamed ElKalioby; Zeeshan Shah; Hibah Alruwaili; Amal Jaafar; Ranad Albar; Asma Akilan; Hamsa Tayeb; Asma Tahir; Mohammed Fawzy; Mohammed Nasr; Shaza Makki; Abdullah Alfaifi; Hanna Akleh; Suad Yamani; Dalal Bubshait; Mohammed Mahnashi; Talal Basha; Afaf Alsagheir; Musad Abu Khaled; Khalid Alsaleem; Maisoon Almugbel; Manal Badawi; Fahad Bashiri; Saeed Bohlega; Raashida Sulaiman; Ehab Tous; Syed Ahmed; Talal Algoufi; Hamoud Al-Mousa; Emadia Alaki; Susan Alhumaidi; Hadeel Alghamdi; Malak Alghamdi; Ahmed Sahly; Shapar Nahrir; Ali Al-Ahmari; Hisham Alkuraya; Ali Almehaidib; Mohammed Abanemai; Fahad Alsohaibaini; Bandar Alsaud; Rand Arnaout; Ghada M H Abdel-Salam; Hasan Aldhekri; Suzan AlKhater; Khalid Alqadi; Essam Alsabban; Turki Alshareef; Khalid Awartani; Hanaa Banjar; Nada Alsahan; Ibraheem Abosoudah; Abdullah Alashwal; Wajeeh Aldekhail; Sami Alhajjar; Sulaiman Al-Mayouf; Abdulaziz Alsemari; Walaa Alshuaibi; Saeed Altala; Abdulhadi Altalhi; Salah Baz; Muddathir Hamad; Tariq Abalkhail; Badi Alenazi; Alya Alkaff; Fahad Almohareb; Fuad Al Mutairi; Mona Alsaleh; Abdullah Alsonbul; Somaya Alzelaye; Shakir Bahzad; Abdulaziz Bin Manee; Ola Jarrad; Neama Meriki; Bassem Albeirouti; Amal Alqasmi; Mohammed AlBalwi; Nawal Makhseed; Saeed Hassan; Isam Salih; Mustafa A Salih; Marwan Shaheen; Saadeh Sermin; Shamsad Shahrukh; Shahrukh Hashmi; Ayman Shawli; Ameen Tajuddin; Abdullah Tamim; Ahmed Alnahari; Ibrahim Ghemlas; Maged Hussein; Sami Wali; Hatem Murad; Brian F Meyer; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2019-05-23       Impact factor: 11.025

4.  A genetic linkage map of the human genome.

Authors:  H Donis-Keller; P Green; C Helms; S Cartinhour; B Weiffenbach; K Stephens; T P Keith; D W Bowden; D R Smith; E S Lander
Journal:  Cell       Date:  1987-10-23       Impact factor: 41.582

Review 5.  Carrier screening for recessive disorders.

Authors:  Stylianos E Antonarakis
Journal:  Nat Rev Genet       Date:  2019-09       Impact factor: 53.242

6.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

7.  The sequence of the human genome.

Authors:  J C Venter; M D Adams; E W Myers; P W Li; R J Mural; G G Sutton; H O Smith; M Yandell; C A Evans; R A Holt; J D Gocayne; P Amanatides; R M Ballew; D H Huson; J R Wortman; Q Zhang; C D Kodira; X H Zheng; L Chen; M Skupski; G Subramanian; P D Thomas; J Zhang; G L Gabor Miklos; C Nelson; S Broder; A G Clark; J Nadeau; V A McKusick; N Zinder; A J Levine; R J Roberts; M Simon; C Slayman; M Hunkapiller; R Bolanos; A Delcher; I Dew; D Fasulo; M Flanigan; L Florea; A Halpern; S Hannenhalli; S Kravitz; S Levy; C Mobarry; K Reinert; K Remington; J Abu-Threideh; E Beasley; K Biddick; V Bonazzi; R Brandon; M Cargill; I Chandramouliswaran; R Charlab; K Chaturvedi; Z Deng; V Di Francesco; P Dunn; K Eilbeck; C Evangelista; A E Gabrielian; W Gan; W Ge; F Gong; Z Gu; P Guan; T J Heiman; M E Higgins; R R Ji; Z Ke; K A Ketchum; Z Lai; Y Lei; Z Li; J Li; Y Liang; X Lin; F Lu; G V Merkulov; N Milshina; H M Moore; A K Naik; V A Narayan; B Neelam; D Nusskern; D B Rusch; S Salzberg; W Shao; B Shue; J Sun; Z Wang; A Wang; X Wang; J Wang; M Wei; R Wides; C Xiao; C Yan; A Yao; J Ye; M Zhan; W Zhang; H Zhang; Q Zhao; L Zheng; F Zhong; W Zhong; S Zhu; S Zhao; D Gilbert; S Baumhueter; G Spier; C Carter; A Cravchik; T Woodage; F Ali; H An; A Awe; D Baldwin; H Baden; M Barnstead; I Barrow; K Beeson; D Busam; A Carver; A Center; M L Cheng; L Curry; S Danaher; L Davenport; R Desilets; S Dietz; K Dodson; L Doup; S Ferriera; N Garg; A Gluecksmann; B Hart; J Haynes; C Haynes; C Heiner; S Hladun; D Hostin; J Houck; T Howland; C Ibegwam; J Johnson; F Kalush; L Kline; S Koduru; A Love; F Mann; D May; S McCawley; T McIntosh; I McMullen; M Moy; L Moy; B Murphy; K Nelson; C Pfannkoch; E Pratts; V Puri; H Qureshi; M Reardon; R Rodriguez; Y H Rogers; D Romblad; B Ruhfel; R Scott; C Sitter; M Smallwood; E Stewart; R Strong; E Suh; R Thomas; N N Tint; S Tse; C Vech; G Wang; J Wetter; S Williams; M Williams; S Windsor; E Winn-Deen; K Wolfe; J Zaveri; K Zaveri; J F Abril; R Guigó; M J Campbell; K V Sjolander; B Karlak; A Kejariwal; H Mi; B Lazareva; T Hatton; A Narechania; K Diemer; A Muruganujan; N Guo; S Sato; V Bafna; S Istrail; R Lippert; R Schwartz; B Walenz; S Yooseph; D Allen; A Basu; J Baxendale; L Blick; M Caminha; J Carnes-Stine; P Caulk; Y H Chiang; M Coyne; C Dahlke; A Deslattes Mays; M Dombroski; M Donnelly; D Ely; S Esparham; C Fosler; H Gire; S Glanowski; K Glasser; A Glodek; M Gorokhov; K Graham; B Gropman; M Harris; J Heil; S Henderson; J Hoover; D Jennings; C Jordan; J Jordan; J Kasha; L Kagan; C Kraft; A Levitsky; M Lewis; X Liu; J Lopez; D Ma; W Majoros; J McDaniel; S Murphy; M Newman; T Nguyen; N Nguyen; M Nodell; S Pan; J Peck; M Peterson; W Rowe; R Sanders; J Scott; M Simpson; T Smith; A Sprague; T Stockwell; R Turner; E Venter; M Wang; M Wen; D Wu; M Wu; A Xia; A Zandieh; X Zhu
Journal:  Science       Date:  2001-02-16       Impact factor: 47.728

8.  Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.

Authors:  Mohamed Abouelhoda; Turki Sobahy; Mohamed El-Kalioby; Nisha Patel; Hanan Shamseldin; Dorota Monies; Nada Al-Tassan; Khushnooda Ramzan; Faiqa Imtiaz; Ranad Shaheen; Fowzan S Alkuraya
Journal:  Genet Med       Date:  2016-04-28       Impact factor: 8.822

9.  Clinical outcomes of a genomic screening program for actionable genetic conditions.

Authors:  Adam H Buchanan; H Lester Kirchner; Marci L B Schwartz; Melissa A Kelly; Tara Schmidlen; Laney K Jones; Miranda L G Hallquist; Heather Rocha; Megan Betts; Rachel Schwiter; Loren Butry; Amanda L Lazzeri; Lauren R Frisbie; Alanna Kulchak Rahm; Jing Hao; Huntington F Willard; Christa L Martin; David H Ledbetter; Marc S Williams; Amy C Sturm
Journal:  Genet Med       Date:  2020-06-30       Impact factor: 8.864

10.  Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Authors:  Cristopher V Van Hout; Ioanna Tachmazidou; Joshua D Backman; Joshua D Hoffman; Daren Liu; Ashutosh K Pandey; Claudia Gonzaga-Jauregui; Shareef Khalid; Bin Ye; Nilanjana Banerjee; Alexander H Li; Colm O'Dushlaine; Anthony Marcketta; Jeffrey Staples; Claudia Schurmann; Alicia Hawes; Evan Maxwell; Leland Barnard; Alexander Lopez; John Penn; Lukas Habegger; Andrew L Blumenfeld; Xiaodong Bai; Sean O'Keeffe; Ashish Yadav; Kavita Praveen; Marcus Jones; William J Salerno; Wendy K Chung; Ida Surakka; Cristen J Willer; Kristian Hveem; Joseph B Leader; David J Carey; David H Ledbetter; Lon Cardon; George D Yancopoulos; Aris Economides; Giovanni Coppola; Alan R Shuldiner; Suganthi Balasubramanian; Michael Cantor; Matthew R Nelson; John Whittaker; Jeffrey G Reid; Jonathan Marchini; John D Overton; Robert A Scott; Gonçalo R Abecasis; Laura Yerges-Armstrong; Aris Baras
Journal:  Nature       Date:  2020-10-21       Impact factor: 69.504

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  1 in total

1.  Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Authors:  Bo Yuan; Katharina V Schulze; Nurit Assia Batzir; Jefferson Sinson; Hongzheng Dai; Wenmiao Zhu; Francia Bocanegra; Chin-To Fong; Jimmy Holder; Joanne Nguyen; Christian P Schaaf; Yaping Yang; Weimin Bi; Christine Eng; Chad Shaw; James R Lupski; Pengfei Liu
Journal:  Genome Med       Date:  2022-09-30       Impact factor: 15.266

  1 in total

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