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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT. Castilla-Vallmanya L, et al. Among authors: sadedin s. Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7. Genet Med. 2020. PMID: 32376980 Free PMC article.
Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
Srivastava AK, Wang Y, Huang R, Skinner C, Thompson T, Pollard L, Wood T, Luo F, Stevenson R, Polimanti R, Gelernter J, Lin X, Lim IY, Wu Y, Teh AL, Chen L, Aris IM, Soh SE, Tint MT, MacIsaac JL, Yap F, Kwek K, Saw SM, Kobor MS, Meaney MJ, Godfrey KM, Chong YS, Holbrook JD, Lee YS, Gluckman PD, Karnani N; GUSTO study group, Kapoor A, Lee D, Chakravarti A, Maercker C, Graf F, Boutros M, Stamoulis G, Santoni F, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Garieri M, Ribaux P, Falconnet E, Borel C, Antonarakis SE, Kumar S, Curran J, Blangero J, Chatterjee S, Kapoor A, Akiyama J, Auer D, Berrios C, Pennacchio L, Chakravarti A, Donti TR, Cappuccio G, Miller M, Atwal P, Kennedy A, Cardon A, Bacino C, Emrick L, Hertecant J, Baumer F, Porter B, Bainbridge M, Bonnen P, Graham B, Sutton R, Sun Q, Elsea S, Hu Z, Wang P, Zhu Y, Zhao J, Xiong M, Bennett DA, Hidalgo-Miranda A, Romero-Cordoba S, Rodriguez-Cuevas S, Rebollar-Vega R, Tagliabue E, Iorio M, D’Ippolito E, Baroni S, Kaczkowski B, Tanaka Y, Kawaji H, Sandelin A, Andersson R, Itoh M, Lassmann T; The FANTOM5 Consortium, Hayashizaki Y, Carninci P, Forrest ARR, Semple CA, Rosenthal EA, Shirts B, Amendola L, Gallego C, Horike-Pyne M, Burt A, Robertson P, Beyers P, Nefcy C, Veenstra D, Hisama F, Bennett R, Dorschner M, Nickerson D, Smith J, Patterson K, Crosslin D, Nassir R, Zubair N, Harrison T, Peters U, Jarvik G; NHLBI GO Exome Sequencing Project, Menghi F, Inaki K, Woo X, Kumar P, Grzeda K, Malhotra A, Kim H, Ucar D, Shreckengast P, Karuturi K, Keck J, Chuang J, Liu ET, Ji B, Tyler A, Ananda G, Carter G, Nikbakht H, Montagne M, Zeinieh M, Harutyunyan A, Mcconechy M, Jabado N, Lavigne P, Majewski J, Goldstein JB, Overman M, Varadhachary G, Shroff R, Wolff R, Javle M, Futreal A, Fogelman D, Bravo L, Fajardo W, Gomez H, Castaneda C, Rolfo C, Pinto JA, Akdemir KC, Chin L, Futreal A; ICGC PCAWG Structural Alterations Group, Patterson S, Statz C, Mockus S, Nikolaev SN, Bonilla XI, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy V, Sharpe H, McKee T, Letourneau A, Ribaux P, Popadin K, Basset-Seguin N, Chaabene RB, Santoni F, Andrianova M, Guipponi M, Garieri M, Verdan C, Grosdemange K, Sumara O, Eilers M, Aifantis I, Michielin O, de Sauvage F, Antonarakis S, Likhitrattanapisal S, Lincoln S, Kurian A, Desmond A, Yang S, Kobayashi Y, Ford J, Ellisen L, Peters TL, Alvarez KR, Hollingsworth EF, Lopez-Terrada DH, Hastie A, Dzakula Z, Pang AW, Lam ET, Anantharaman T, Saghbini M, Cao H; BioNano Genomics, Gonzaga-Jauregui C, Ma L, King A, Rosenzweig EB, Krishnan U, Reid JG, Overton JD, Dewey F, Chung WK, Small K, DeLuca A, Cremers F, Lewis RA, Puech V, Bakall B, Silva-Garcia R, Rohrschneider K, Leys M, Shaya FS, Stone E, Sobreira NL, Schiettecatte F, Ling H, Pugh E, Witmer D, Hetrick K, Zhang P, Doheny K, Valle D, Hamosh A, Jhangiani SN, Akdemir ZC, Bainbridge MN, Charng W, Wiszniewski W, Gambin T, Karaca E, Bayram Y, Eldomery MK, Posey J, Doddapaneni H, Hu J, Sutton VR, Muzny DM, Boerwinkle EA, Valle D, Lupski JR, Gibbs RA, Shekar S, Salerno W, English A, Mangubat A, Bruestle J, Thorogood A, Knoppers BM; Global Alliance for Genomics and Health - Regulatory and Ethics Working Group, Takahashi H, Nitta KR, Kozhuharova A, Suzuki AM, Sharma H, Cotella D, Santoro C, Zucchelli S, Gustincich S, Carninci P, Mulvihill JJ, Baynam G, Gahl W, Groft SC, Kosaki K, Lasko P, Melegh B, Taruscio D, Ghosh R, Plon S, Scherer S, Qin X, Sanghvi R, Walker K, Chiang T, Muzny D, Wang L, Black J, Boerwinkle E, Weinshilboum R, Gibbs R, Karpinets T, Calderone T, Wani K, Yu X, Creasy C, Haymaker C, Forget M, Nanda V, Roszik J, Wargo J, Haydu L, Song X, Lazar A, Gershenwald J, Davies M, Bernatchez C, Zhang J, Futreal A, Woodman S, Chesler EJ, Reynolds T, Bubier JA, Phillips C, Langston MA, Baker EJ, Xiong M, Ma L, Lin N, Amos C, Lin N, Wang P, Zhu Y, Zhao J, Calhoun V, Xiong M, Dobretsberger O, Egger M, Leimgruber F, Sadedin S, Oshlack A; Melbourne Genomics Health Alliance, Antonio VAA, Ono N; Clark Kendrick C. Go, Ahmed Z, Bolisetty M, Zeeshan S, Anguiano E, Ucar D, Sarkar A, Nandineni MR, Zeng C, Shao J, Cao H, Hastie A, Pang AW, Lam ET, Liang T, Pham K, Saghbini M, Dzakula Z, Chee-Wei Y, Dongsheng L, Lai-Ping W, Lian D, Hee ROT, Yunus Y, Aghakhanian F, Mokhtar SS, Lok-Yung CV, Bhak J, Phipps M, Shuhua X, Yik-Ying T, Kumar V, Boon-Peng H, Campbell I, Young MA, James P; Lifepool, Rain M, Mohammad G, Kukreti R, Pasha Q, Akilzhanova AR, Guelly C, Abilova Z, Rakhimova S, Akhmetova A, Kairov U, Trajanoski S, Zhumadilov Z, Bekbossynova M, Schumacher C, Sandhu S, Harkins T, Makarov V, Doddapaneni H, Glenn R, Momin Z, Dilrukshi B, Chao H, Meng Q, Gudenkauf B, Kshitij R, Jayaseelan J, Nessner C, Lee S, Blankenberg K, Lewis L, Hu J, Han Y, Dinh H, Jireh S, Walker K, Boerwinkle E, Muzny D, Gibbs R, Hu J, Walker K, Buhay C, Liu X, Wang Q, Sanghvi R, Doddapaneni H, Ding Y, Veeraraghavan N, Yang Y, Boerwinkle E, Beaudet AL, Eng CM, Muzny DM, Gibbs RA, Worley KCC, Liu Y, Hughes DST, Murali SC, Harris RA, English AC, Qin X, Hampton OA, Larsen P, Beck C, Han Y, Wang M, Doddapaneni H, Kovar CL, Salerno WJ, Yoder A, Richards S, Rogers J, Lupski JR, Muzny DM, Gibbs RA, Meng Q, Bainbridge M, Wang M, Doddapaneni H, Han Y, Muzny D, Gibbs R, Harris RA, Raveenedran M, Xue C, Dahdouli M, Cox L, Fan G, Ferguson B, Hovarth J, Johnson Z, Kanthaswamy S, Kubisch M, Platt M, Smith D, Vallender E, Wiseman R, Liu X, Below J, Muzny D, Gibbs R, Yu F, Rogers J, Lin J, Zhang Y, Ouyang Z, Moore A, Wang Z, Hofmann J, Purdue M, Stolzenberg-Solomon R, Weinstein S, Albanes D, Liu CS, Cheng WL, Lin TT, Lan Q, Rothman N, Berndt S, Chen ES, Bahrami H, Khoshzaban A, Keshal SH, Bahrami H, Khoshzaban A, Keshal SH, Alharbi KKR, Zhalbinova M, Akilzhanova A, Rakhimova S, Bekbosynova M, Myrzakhmetova S, Matar M, Mili N, Molinari R, Ma Y, Guerrier S, Elhawary N, Tayeb M, Bogari N, Qotb N, McClymont SA, Hook PW, Goff LA, McCallion A, Kong Y, Charette JR, Hicks WL, Naggert JK, Zhao L, Nishina PM, Edrees BM, Athar M, Al-Allaf FA, Taher MM, Khan W, Bouazzaoui A, Harbi NA, Safar R, Al-Edressi H, Anazi A, Altayeb N, Ahmed MA, Alansary K, Abduljaleel Z, Kratz A, Beguin P, Poulain S, Kaneko M, Takahiko C, Matsunaga A, Kato S, Suzuki AM, Bertin N, Lassmann T, Vigot R, Carninci P, Plessy C, Launey T, Graur D, Lee D, Kapoor A, Chakravarti A, Friis-Nielsen J, Izarzugaza JM, Brunak S, Chakraborty A, Basak J, Mukhopadhyay A, Soibam BS, Das D, Biswas N, Das S, Sarkar S, Maitra A, Panda C, Majumder P, Morsy H, Gaballah A, Samir M, Shamseya M, Mahrous H, Ghazal A, Arafat W, Hashish M, Gruber JJ, Jaeger N, Snyder M, Patel K, Bowman S, Davis T, Kraushaar D, Emerman A, Russello S, Henig N, Hendrickson C, Zhang K, Rodriguez-Dorantes M, Cruz-Hernandez CD, Garcia-Tobilla CDP, Solorzano-Rosales S, Jäger N, Chen J, Haile R, Hitchins M, Brooks JD, Snyder M, Jiménez-Morales S, Ramírez M, Nuñez J, Bekker V, Leal Y, Jiménez E, Medina A, Hidalgo A, Mejía J, Halytskiy V, Naggert J, Collin GB, DeMauro K, Hanusek R, Nishina PM, Belhassa K, Belhassan K, Bouguenouch L, Samri I, Sayel H, moufid FZ, El Bouchikhi I, Trhanint S, Hamdaoui H, Elotmani I, Khtiri I, Kettani O, Quibibo L, Ahagoud M, Abbassi M, Ouldim K, Marusin AV, Kornetov AN, Swarovskaya M, Vagaiceva K, Stepanov V, De La Paz EMC, Sy R, Nevado J, Reganit P, Santos L, Magno JD, Punzalan FE, Ona D, Llanes E, Santos-Cortes RL, Tiongco R, Aherrera J, Abrahan L, Pagauitan-Alan P; The Philippine Cardiogenomics Study Group, Morelli KH, Domire JS, Pyne N, Harper S, Burgess R, Zhalbinova M, Akilzhanova A, Rakhimova S, Bekbosynova M, Myrzakhmetova S, Gari MA, Dallol A, Alsehli H, Gari A, Gari M, Abuzenadah A, Thomas M, Sukhai M, Garg S, Misyura M, Zhang T, Schuh A, Stockley T, Kamel-Reid S, Sherry S, Xiao C, Slotta D, Rodarmer K, Feolo M, Kimelman M, Godynskiy G, O’Sullivan C, Yaschenko E, Xiao C, Yaschenko E, Sherry S, Rangel-Escareño C, Rueda-Zarate H, Tayubi IA, Mohammed R; on behalf of 1, Ahmed I, Ahmed T, Seth S, Amin S, Song X, Mao X, Sun H, Verhaak RG, Futreal A, Zhang J, Whiite SJ, Chiang T, English A, Farek J, Kahn Z, Salerno W, Veeraraghavan N, Boerwinkle E, Gibbs R, Kasukawa T, Lizio M, Harshbarger J, Hisashi S, Severin J, Imad A, Sahin S, Freeman TC, Baillie K, Sandelin A, Carninci P, Forrest ARR, Kawaji H; The FANTOM Consortium, Salerno W, English A, Shekar SN, Mangubat A, Bruestle J, Boerwinkle E, Gibbs RA, Salem AH, Ali M, Ibrahim A, Ibrahim M, Barrera HA, Garza L, Torres JA, Barajas V, Ulloa-Aguirre A, Kershenobich D, Mortaji S, Guizar P, Loera E, Moreno K, De León A, Monsiváis D, Gómez J, Cardiel R, Fernandez-Lopez JC, Bonifaz-Peña V, Rangel-Escareño C, Hidalgo-Miranda A, Contreras AV, Polfus L; CHARGE and NHLBI Exome Sequence Project Working Groups, Wang X, Philip V, Carter G, Abuzenadah AA, Gari M, Turki R, Dallol A, Uyar A, Kaygun A, Zaman S, Marquez E, George J, Ucar D, Hendrickson CL, Emerman A, Kraushaar D, Bowman S, Henig N, Davis T, Russello S, Patel K, Starr DB, Baird M, Kirkpatrick B, Sheets K, Nitsche R, Prieto-Lafuente L, Landrum M, Lee J, Rubinstein W, Maglott D, Thavanati PKR, de Dios AE, Hernandez REN, Aldrate MEA, Mejia MRR, Kanala KRR, Abduljaleel Z, Khan W, Al-Allaf FA, Athar M, Taher MM, Shahzad N, Bouazzaoui A, Huber E, Dan A, Al-Allaf FA, Herr W, Sprotte G, Köstler J, Hiergeist A, Gessner A, Andreesen R, Holler E, Al-Allaf F, Alashwal A, Abduljaleel Z, Taher M, Bouazzaoui A, Abalkhail H, Al-Allaf A, Bamardadh R, Athar M, Filiptsova O, Kobets M, Kobets Y, Burlaka I, Timoshyna I, Filiptsova O, Kobets MN, Kobets Y, Burlaka I, Timoshyna I, Filiptsova O, Kobets MN, Kobets Y, Burlaka I, Timoshyna I, Al-allaf FA, Mohiuddin MT, Zainularifeen A, Mohammed A, Abalkhail H, Owaidah T, Bouazzaoui A. Srivastava AK, et al. Among authors: sadedin s. Hum Genomics. 2016 May 26;10 Suppl 1(Suppl 1):12. doi: 10.1186/s40246-016-0063-5. Hum Genomics. 2016. PMID: 27294413 Free PMC article.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
Australian Genomics Health Alliance Acute Care Flagship, Lunke S, Eggers S, Wilson M, Patel C, Barnett CP, Pinner J, Sandaradura SA, Buckley MF, Krzesinski EI, de Silva MG, Brett GR, Boggs K, Mowat D, Kirk EP, Adès LC, Akesson LS, Amor DJ, Ayres S, Baxendale A, Borrie S, Bray A, Brown NJ, Chan CY, Chong B, Cliffe C, Delatycki MB, Edwards M, Elakis G, Fahey MC, Fennell A, Fowles L, Gallacher L, Higgins M, Howell KB, Hunt L, Hunter MF, Jones KJ, King S, Kumble S, Lang S, Le Moing M, Ma A, Phelan D, Quinn MCJ, Richards A, Richmond CM, Riseley J, Rodgers J, Sachdev R, Sadedin S, Schlapbach LJ, Smith J, Springer A, Tan NB, Tan TY, Temple SL, Theda C, Vasudevan A, White SM, Yeung A, Zhu Y, Martyn M, Best S, Roscioli T, Christodoulou J, Stark Z. Australian Genomics Health Alliance Acute Care Flagship, et al. Among authors: sadedin s. JAMA. 2020 Jun 23;323(24):2503-2511. doi: 10.1001/jama.2020.7671. JAMA. 2020. PMID: 32573669 Free PMC article.
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Among authors: sadedin s. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Missense variant contribution to USP9X-female syndrome.
Jolly LA, Parnell E, Gardner AE, Corbett MA, Pérez-Jurado LA, Shaw M, Lesca G, Keegan C, Schneider MC, Griffin E, Maier F, Kiss C, Guerin A, Crosby K, Rosenbaum K, Tanpaiboon P, Whalen S, Keren B, McCarrier J, Basel D, Sadedin S, White SM, Delatycki MB, Kleefstra T, Küry S, Brusco A, Sukarova-Angelovska E, Trajkova S, Yoon S, Wood SA, Piper M, Penzes P, Gecz J. Jolly LA, et al. Among authors: sadedin s. NPJ Genom Med. 2020 Dec 9;5(1):53. doi: 10.1038/s41525-020-00162-9. NPJ Genom Med. 2020. PMID: 33298948 Free PMC article.
Dual-phase evolution in complex adaptive systems.
Paperin G, Green DG, Sadedin S. Paperin G, et al. Among authors: sadedin s. J R Soc Interface. 2011 May 6;8(58):609-29. doi: 10.1098/rsif.2010.0719. Epub 2011 Jan 19. J R Soc Interface. 2011. PMID: 21247947 Free PMC article. Review.
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ, Jaillard S, Grover SR, van den Bergen J, Robevska G, Bell KM, Sadedin S, Hanna C, Dulon J, Touraine P, Sinclair AH. Tucker EJ, et al. Among authors: sadedin s. Hum Mutat. 2019 Jul;40(7):886-892. doi: 10.1002/humu.23744. Epub 2019 Mar 29. Hum Mutat. 2019. PMID: 30924587
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Tan TY, Sedmík J, Fitzgerald MP, Halevy RS, Keegan LP, Helbig I, Basel-Salmon L, Cohen L, Straussberg R, Chung WK, Helal M, Maroofian R, Houlden H, Juusola J, Sadedin S, Pais L, Howell KB, White SM, Christodoulou J, O'Connell MA. Tan TY, et al. Among authors: sadedin s. Am J Hum Genet. 2020 Apr 2;106(4):467-483. doi: 10.1016/j.ajhg.2020.02.015. Epub 2020 Mar 26. Am J Hum Genet. 2020. PMID: 32220291 Free PMC article.
SYT1-associated neurodevelopmental disorder: a case series.
Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S; Broad Center for Mendelian Genomics, Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL. Baker K, et al. Among authors: sadedin s. Brain. 2018 Sep 1;141(9):2576-2591. doi: 10.1093/brain/awy209. Brain. 2018. PMID: 30107533 Free PMC article.
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH. Lenk GM, et al. Among authors: sadedin s. Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28. Hum Mutat. 2019. PMID: 30740813 Free PMC article.
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