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 *

267 related articles for article (PubMed ID: 29790871)

  • 1. Phenotypic expansion illuminates multilocus pathogenic variation.
    Karaca E; Posey JE; Coban Akdemir Z; Pehlivan D; Harel T; Jhangiani SN; Bayram Y; Song X; Bahrambeigi V; Yuregir OO; Bozdogan S; Yesil G; Isikay S; Muzny D; Gibbs RA; Lupski JR
    Genet Med; 2018 Dec; 20(12):1528-1537. PubMed ID: 29790871
    [TBL] [Abstract][Full Text] [Related]  

  • 2. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
    Mitani T; Isikay S; Gezdirici A; Gulec EY; Punetha J; Fatih JM; Herman I; Akay G; Du H; Calame DG; Ayaz A; Tos T; Yesil G; Aydin H; Geckinli B; Elcioglu N; Candan S; Sezer O; Erdem HB; Gul D; Demiral E; Elmas M; Yesilbas O; Kilic B; Gungor S; Ceylan AC; Bozdogan S; Ozalp O; Cicek S; Aslan H; Yalcintepe S; Topcu V; Bayram Y; Grochowski CM; Jolly A; Dawood M; Duan R; Jhangiani SN; Doddapaneni H; Hu J; Muzny DM; ; Marafi D; Akdemir ZC; Karaca E; Carvalho CMB; Gibbs RA; Posey JE; Lupski JR; Pehlivan D
    Am J Hum Genet; 2021 Oct; 108(10):1981-2005. PubMed ID: 34582790
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
    Posey JE; Harel T; Liu P; Rosenfeld JA; James RA; Coban Akdemir ZH; Walkiewicz M; Bi W; Xiao R; Ding Y; Xia F; Beaudet AL; Muzny DM; Gibbs RA; Boerwinkle E; Eng CM; Sutton VR; Shaw CA; Plon SE; Yang Y; Lupski JR
    N Engl J Med; 2017 Jan; 376(1):21-31. PubMed ID: 27959697
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
    BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
    Herman I; Jolly A; Du H; Dawood M; Abdel-Salam GMH; Marafi D; Mitani T; Calame DG; Coban-Akdemir Z; Fatih JM; Hegazy I; Jhangiani SN; Gibbs RA; Pehlivan D; Posey JE; Lupski JR
    Am J Med Genet A; 2022 Mar; 188(3):735-750. PubMed ID: 34816580
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
    Smith ED; Blanco K; Sajan SA; Hunter JM; Shinde DN; Wayburn B; Rossi M; Huang J; Stevens CA; Muss C; Alcaraz W; Hagman KDF; Tang S; Radtke K
    Genet Med; 2019 Oct; 21(10):2199-2207. PubMed ID: 30894705
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
    Wenger AM; Guturu H; Bernstein JA; Bejerano G
    Genet Med; 2017 Feb; 19(2):209-214. PubMed ID: 27441994
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
    Shamseldin HE; AlAbdi L; Maddirevula S; Alsaif HS; Alzahrani F; Ewida N; Hashem M; Abdulwahab F; Abuyousef O; Kuwahara H; Gao X; ; Alkuraya FS
    Genome Med; 2021 Oct; 13(1):161. PubMed ID: 34645488
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
    Al-Dewik N; Mohd H; Al-Mureikhi M; Ali R; Al-Mesaifri F; Mahmoud L; Shahbeck N; El-Akouri K; Almulla M; Al Sulaiman R; Musa S; Al-Marri AA; Richard G; Juusola J; Solomon BD; Alkuraya FS; Ben-Omran T
    Am J Med Genet A; 2019 Jun; 179(6):927-935. PubMed ID: 30919572
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
    Pehlivan D; Bayram Y; Gunes N; Coban Akdemir Z; Shukla A; Bierhals T; Tabakci B; Sahin Y; Gezdirici A; Fatih JM; Gulec EY; Yesil G; Punetha J; Ocak Z; Grochowski CM; Karaca E; Albayrak HM; Radhakrishnan P; Erdem HB; Sahin I; Yildirim T; Bayhan IA; Bursali A; Elmas M; Yuksel Z; Ozdemir O; Silan F; Yildiz O; Yesilbas O; Isikay S; Balta B; Gu S; Jhangiani SN; Doddapaneni H; Hu J; Muzny DM; ; Boerwinkle E; Gibbs RA; Tsiakas K; Hempel M; Girisha KM; Gul D; Posey JE; Elcioglu NH; Tuysuz B; Lupski JR
    Am J Hum Genet; 2019 Jul; 105(1):132-150. PubMed ID: 31230720
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Insights into genetics, human biology and disease gleaned from family based genomic studies.
    Posey JE; O'Donnell-Luria AH; Chong JX; Harel T; Jhangiani SN; Coban Akdemir ZH; Buyske S; Pehlivan D; Carvalho CMB; Baxter S; Sobreira N; Liu P; Wu N; Rosenfeld JA; Kumar S; Avramopoulos D; White JJ; Doheny KF; Witmer PD; Boehm C; Sutton VR; Muzny DM; Boerwinkle E; Günel M; Nickerson DA; Mane S; MacArthur DG; Gibbs RA; Hamosh A; Lifton RP; Matise TC; Rehm HL; Gerstein M; Bamshad MJ; Valle D; Lupski JR;
    Genet Med; 2019 Apr; 21(4):798-812. PubMed ID: 30655598
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
    Seo GH; Kim T; Choi IH; Park JY; Lee J; Kim S; Won DG; Oh A; Lee Y; Choi J; Lee H; Kang HG; Cho HY; Cho MH; Kim YJ; Yoon YH; Eun BL; Desnick RJ; Keum C; Lee BH
    Clin Genet; 2020 Dec; 98(6):562-570. PubMed ID: 32901917
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Monogenic variants in dystonia: an exome-wide sequencing study.
    Zech M; Jech R; Boesch S; Škorvánek M; Weber S; Wagner M; Zhao C; Jochim A; Necpál J; Dincer Y; Vill K; Distelmaier F; Stoklosa M; Krenn M; Grunwald S; Bock-Bierbaum T; Fečíková A; Havránková P; Roth J; Příhodová I; Adamovičová M; Ulmanová O; Bechyně K; Danhofer P; Veselý B; Haň V; Pavelekova P; Gdovinová Z; Mantel T; Meindl T; Sitzberger A; Schröder S; Blaschek A; Roser T; Bonfert MV; Haberlandt E; Plecko B; Leineweber B; Berweck S; Herberhold T; Langguth B; Švantnerová J; Minár M; Ramos-Rivera GA; Wojcik MH; Pajusalu S; Õunap K; Schatz UA; Pölsler L; Milenkovic I; Laccone F; Pilshofer V; Colombo R; Patzer S; Iuso A; Vera J; Troncoso M; Fang F; Prokisch H; Wilbert F; Eckenweiler M; Graf E; Westphal DS; Riedhammer KM; Brunet T; Alhaddad B; Berutti R; Strom TM; Hecht M; Baumann M; Wolf M; Telegrafi A; Person RE; Zamora FM; Henderson LB; Weise D; Musacchio T; Volkmann J; Szuto A; Becker J; Cremer K; Sycha T; Zimprich F; Kraus V; Makowski C; Gonzalez-Alegre P; Bardakjian TM; Ozelius LJ; Vetro A; Guerrini R; Maier E; Borggraefe I; Kuster A; Wortmann SB; Hackenberg A; Steinfeld R; Assmann B; Staufner C; Opladen T; Růžička E; Cohn RD; Dyment D; Chung WK; Engels H; Ceballos-Baumann A; Ploski R; Daumke O; Haslinger B; Mall V; Oexle K; Winkelmann J
    Lancet Neurol; 2020 Nov; 19(11):908-918. PubMed ID: 33098801
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A Genocentric Approach to Discovery of Mendelian Disorders.
    Hansen AW; Murugan M; Li H; Khayat MM; Wang L; Rosenfeld J; Andrews BK; Jhangiani SN; Coban Akdemir ZH; Sedlazeck FJ; Ashley-Koch AE; Liu P; Muzny DM; ; Davis EE; Katsanis N; Sabo A; Posey JE; Yang Y; Wangler MF; Eng CM; Sutton VR; Lupski JR; Boerwinkle E; Gibbs RA
    Am J Hum Genet; 2019 Nov; 105(5):974-986. PubMed ID: 31668702
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
    Bozkurt-Yozgatli T; Pehlivan D; Gibbs RA; Sezerman U; Posey JE; Lupski JR; Coban-Akdemir Z
    BMC Med Genomics; 2024 Apr; 17(1):85. PubMed ID: 38622594
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
    Balci TB; Hartley T; Xi Y; Dyment DA; Beaulieu CL; Bernier FP; Dupuis L; Horvath GA; Mendoza-Londono R; Prasad C; Richer J; Yang XR; Armour CM; Bareke E; Fernandez BA; McMillan HJ; Lamont RE; Majewski J; Parboosingh JS; Prasad AN; Rupar CA; Schwartzentruber J; Smith AC; Tétreault M; ; ; Innes AM; Boycott KM
    Clin Genet; 2017 Sep; 92(3):281-289. PubMed ID: 28170084
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights.
    Akcan MB; Silan F
    J Pediatr Gastroenterol Nutr; 2024 Jun; 78(6):1251-1260. PubMed ID: 38682389
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
    Marinakis NM; Svingou M; Veltra D; Kekou K; Sofocleous C; Tilemis FN; Kosma K; Tsoutsou E; Fryssira H; Traeger-Synodinos J
    Am J Med Genet A; 2021 Aug; 185(8):2561-2571. PubMed ID: 34008892
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
    Hiraide T; Yamoto K; Masunaga Y; Asahina M; Endoh Y; Ohkubo Y; Matsubayashi T; Tsurui S; Yamada H; Yanagi K; Nakashima M; Hirano K; Sugimura H; Fukuda T; Ogata T; Saitsu H
    Clin Genet; 2021 Jul; 100(1):40-50. PubMed ID: 33644862
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
    Zhu X; Petrovski S; Xie P; Ruzzo EK; Lu YF; McSweeney KM; Ben-Zeev B; Nissenkorn A; Anikster Y; Oz-Levi D; Dhindsa RS; Hitomi Y; Schoch K; Spillmann RC; Heimer G; Marek-Yagel D; Tzadok M; Han Y; Worley G; Goldstein J; Jiang YH; Lancet D; Pras E; Shashi V; McHale D; Need AC; Goldstein DB
    Genet Med; 2015 Oct; 17(10):774-81. PubMed ID: 25590979
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.