These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

326 related articles for article (PubMed ID: 35710456)

  • 1. Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
    Schobers G; Schieving JH; Yntema HG; Pennings M; Pfundt R; Derks R; Hofste T; de Wijs I; Wieskamp N; van den Heuvel S; Galbany JC; Gilissen C; Nelen M; Brunner HG; Kleefstra T; Kamsteeg EJ; Willemsen MAAP; Vissers LELM
    Genome Med; 2022 Jun; 14(1):66. PubMed ID: 35710456
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
    Surl D; Won D; Lee ST; Lee CS; Lee J; Lim HT; Chung SA; Song WK; Kim M; Kim SS; Shin S; Choi JR; Sangermano R; Byeon SH; Bujakowska KM; Han J
    JAMA Netw Open; 2024 May; 7(5):e2414198. PubMed ID: 38819824
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
    van Slobbe M; van Haeringen A; Vissers LELM; Bijlsma EK; Rutten JW; Suerink M; Nibbeling EAR; Ruivenkamp CAL; Koene S
    Eur J Pediatr; 2024 Jan; 183(1):345-355. PubMed ID: 37889289
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
    Tan NB; Stapleton R; Stark Z; Delatycki MB; Yeung A; Hunter MF; Amor DJ; Brown NJ; Stutterd CA; McGillivray G; Yap P; Regan M; Chong B; Fanjul Fernandez M; Marum J; Phelan D; Pais LS; White SM; Lunke S; Tan TY
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1508. PubMed ID: 32969205
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
    Zastrow DB; Kohler JN; Bonner D; Reuter CM; Fernandez L; Grove ME; Fisk DG; ; Yang Y; Eng CM; Ward PA; Bick D; Worthey EA; Fisher PG; Ashley EA; Bernstein JA; Wheeler MT
    J Genet Couns; 2019 Apr; 28(2):213-228. PubMed ID: 30964584
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
    Ediae GU; Lemire G; Chisholm C; Hartley T; Eaton A; Osmond M; Rojas SK; Huang L; Gillespie M; ; Sawyer SL; Boycott KM
    Am J Med Genet A; 2023 Feb; 191(2):338-347. PubMed ID: 36331261
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
    Vorsteveld EE; Van der Made CI; Smeekens SP; Schuurs-Hoeijmakers JH; Astuti G; Diepstra H; Gilissen C; Hoenselaar E; Janssen A; van Roozendaal K; Engelen JS; Steyaert W; Weiss MM; Yntema HG; Mantere T; AlZahrani MS; van Aerde K; Derfalvi B; Faqeih EA; Henriet SSV; van Hoof E; Idressi E; Issekutz TB; Jongmans MCJ; Keski-Filppula R; Krapels I; Te Loo M; Mulders-Manders CM; Ten Oever J; Potjewijd J; Sarhan NT; Slot MC; Terhal PA; Thijs H; Vandersteen A; Vanhoutte EK; van de Veerdonk F; van Well G; Netea MG; ; Simons A; Hoischen A
    Clin Immunol; 2024 Nov; 268():110375. PubMed ID: 39369972
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
    Bullich G; Matalonga L; Pujadas M; Papakonstantinou A; Piscia D; Tonda R; Artuch R; Gallano P; Garrabou G; González JR; Grinberg D; Guitart M; Laurie S; Lázaro C; Luengo C; Martí R; Milà M; Ovelleiro D; Parra G; Pujol A; Tizzano E; Macaya A; Palau F; Ribes A; Pérez-Jurado LA; Beltran S;
    J Mol Diagn; 2022 May; 24(5):529-542. PubMed ID: 35569879
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
    Baker SW; Murrell JR; Nesbitt AI; Pechter KB; Balciuniene J; Zhao X; Yu Z; Denenberg EH; DeChene ET; Wilkens AB; Bhoj EJ; Guan Q; Dulik MC; Conlin LK; Abou Tayoun AN; Luo M; Wu C; Cao K; Sarmady M; Bedoukian EC; Tarpinian J; Medne L; Skraban CM; Deardorff MA; Krantz ID; Krock BL; Santani AB
    J Mol Diagn; 2019 Jan; 21(1):38-48. PubMed ID: 30577886
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
    Wijngaard R; Demidov G; O'Gorman L; Corominas-Galbany J; Yaldiz B; Steyaert W; de Boer E; Vissers LELM; Kamsteeg EJ; Pfundt R; Swinkels H; den Ouden A; Te Paske IBAW; de Voer RM; Faivre L; Denommé-Pichon AS; Duffourd Y; Vitobello A; Chevarin M; Straub V; Töpf A; van der Kooi AJ; Magrinelli F; Rocca C; Hanna MG; Vandrovcova J; ; Ossowski S; Laurie S; Gilissen C
    Eur J Hum Genet; 2024 Feb; 32(2):200-208. PubMed ID: 37853102
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
    Schmitz-Abe K; Li Q; Rosen SM; Nori N; Madden JA; Genetti CA; Wojcik MH; Ponnaluri S; Gubbels CS; Picker JD; O'Donnell-Luria AH; Yu TW; Bodamer O; Brownstein CA; Beggs AH; Agrawal PB
    Eur J Hum Genet; 2019 Sep; 27(9):1398-1405. PubMed ID: 30979967
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Limitations of exome sequencing in detecting rare and undiagnosed diseases.
    Burdick KJ; Cogan JD; Rives LC; Robertson AK; Koziura ME; Brokamp E; Duncan L; Hannig V; Pfotenhauer J; Vanzo R; Paul MS; Bican A; Morgan T; Duis J; Newman JH; Hamid R; Phillips JA;
    Am J Med Genet A; 2020 Jun; 182(6):1400-1406. PubMed ID: 32190976
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
    Seo GH; Lee H; Lee J; Han H; Cho YK; Kim M; Choi Y; Choi J; Choi IH; Rhie S; Chae KY; Kim YM; Cheon CK; Kim SJ; Lee J; Kang E; Byeon JH; Yu HJ; Shin YL; Oh A; Kim WJ; Yum MS; Lee BH; Eun BL
    Mol Med; 2022 Mar; 28(1):38. PubMed ID: 35346031
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exome/Genome Sequencing in Undiagnosed Syndromes.
    Sullivan JA; Schoch K; Spillmann RC; Shashi V
    Annu Rev Med; 2023 Jan; 74():489-502. PubMed ID: 36706750
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
    Hartley T; Marshall D; Acker M; Fooks K; Gillespie MK; Price EM; Graham ID; White-Brown A; MacKay L; Macdonald SK; Brady L; Hui AY; Andrews JD; Chowdhury A; Wall E; Soubry É; Ediae GU; Rojas S; Assamad D; Dyment D; Tarnopolsky M; Sawyer SL; Chisholm C; Lemire G; Amburgey K; Lazier J; Mendoza-Londono R; Dowling JJ; Balci TB; Armour CM; Bhola PT; Costain G; Dupuis L; Carter M; Badalato L; Richer J; Boswell-Patterson C; Kannu P; Cordeiro D; Warman-Chardon J; Graham G; Siu VM; Cytrynbaum C; Rusnak A; Aul RB; Yoon G; Gonorazky H; McNiven V; Mercimek-Andrews S; Guerin A; Deshwar AR; Marwaha A; Weksberg R; Karp N; Campbell M; Al-Qattan S; Shuen AY; Inbar-Feigenberg M; Cohn R; Szuto A; Inglese C; Poirier M; Chad L; Potter B; Boycott KM; Hayeems R;
    Genet Med; 2024 Feb; 26(2):101012. PubMed ID: 37924259
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
    Wright CF; McRae JF; Clayton S; Gallone G; Aitken S; FitzGerald TW; Jones P; Prigmore E; Rajan D; Lord J; Sifrim A; Kelsell R; Parker MJ; Barrett JC; Hurles ME; FitzPatrick DR; Firth HV;
    Genet Med; 2018 Oct; 20(10):1216-1223. PubMed ID: 29323667
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
    Shashi V; Schoch K; Spillmann R; Cope H; Tan QK; Walley N; Pena L; McConkie-Rosell A; Jiang YH; Stong N; Need AC; Goldstein DB;
    Genet Med; 2019 Jan; 21(1):161-172. PubMed ID: 29907797
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genome Sequencing for Diagnosing Rare Diseases.
    Wojcik MH; Lemire G; Berger E; Zaki MS; Wissmann M; Win W; White SM; Weisburd B; Wieczorek D; Waddell LB; Verboon JM; VanNoy GE; Töpf A; Tan TY; Syrbe S; Strehlow V; Straub V; Stenton SL; Snow H; Singer-Berk M; Silver J; Shril S; Seaby EG; Schneider R; Sankaran VG; Sanchis-Juan A; Russell KA; Reinson K; Ravenscroft G; Radtke M; Popp D; Polster T; Platzer K; Pierce EA; Place EM; Pajusalu S; Pais L; Õunap K; Osei-Owusu I; Opperman H; Okur V; Oja KT; O'Leary M; O'Heir E; Morel CF; Merkenschlager A; Marchant RG; Mangilog BE; Madden JA; MacArthur D; Lovgren A; Lerner-Ellis JP; Lin J; Laing N; Hildebrandt F; Hentschel J; Groopman E; Goodrich J; Gleeson JG; Ghaoui R; Genetti CA; Gburek-Augustat J; Gazda HT; Ganesh VS; Ganapathi M; Gallacher L; Fu JM; Evangelista E; England E; Donkervoort S; DiTroia S; Cooper ST; Chung WK; Christodoulou J; Chao KR; Cato LD; Bujakowska KM; Bryen SJ; Brand H; Bönnemann CG; Beggs AH; Baxter SM; Bartolomaeus T; Agrawal PB; Talkowski M; Austin-Tse C; Abou Jamra R; Rehm HL; O'Donnell-Luria A
    N Engl J Med; 2024 Jun; 390(21):1985-1997. PubMed ID: 38838312
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
    Cloney T; Gallacher L; Pais LS; Tan NB; Yeung A; Stark Z; Brown NJ; McGillivray G; Delatycki MB; de Silva MG; Downie L; Stutterd CA; Elliott J; Compton AG; Lovgren A; Oertel R; Francis D; Bell KM; Sadedin S; Lim SC; Helman G; Simons C; Macarthur DG; Thorburn DR; O'Donnell-Luria AH; Christodoulou J; White SM; Tan TY
    J Med Genet; 2022 Aug; 59(8):748-758. PubMed ID: 34740920
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.
    Li J; Gao K; Yan H; Xiangwei W; Liu N; Wang T; Xu H; Lin Z; Xie H; Wang J; Wu Y; Jiang Y
    Gene; 2019 Jun; 700():168-175. PubMed ID: 30904718
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.