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 *

383 related articles for article (PubMed ID: 33057194)

  • 1. Evidence for 28 genetic disorders discovered by combining healthcare and research data.
    Kaplanis J; Samocha KE; Wiel L; Zhang Z; Arvai KJ; Eberhardt RY; Gallone G; Lelieveld SH; Martin HC; McRae JF; Short PJ; Torene RI; de Boer E; Danecek P; Gardner EJ; Huang N; Lord J; Martincorena I; Pfundt R; Reijnders MRF; Yeung A; Yntema HG; ; Vissers LELM; Juusola J; Wright CF; Brunner HG; Firth HV; FitzPatrick DR; Barrett JC; Hurles ME; Gilissen C; Retterer K
    Nature; 2020 Oct; 586(7831):757-762. PubMed ID: 33057194
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
    Gennarino VA; Palmer EE; McDonell LM; Wang L; Adamski CJ; Koire A; See L; Chen CA; Schaaf CP; Rosenfeld JA; Panzer JA; Moog U; Hao S; Bye A; Kirk EP; Stankiewicz P; Breman AM; McBride A; Kandula T; Dubbs HA; Macintosh R; Cardamone M; Zhu Y; Ying K; Dias KR; Cho MT; Henderson LB; Baskin B; Morris P; Tao J; Cowley MJ; Dinger ME; Roscioli T; Caluseriu O; Suchowersky O; Sachdev RK; Lichtarge O; Tang J; Boycott KM; Holder JL; Zoghbi HY
    Cell; 2018 Feb; 172(5):924-936.e11. PubMed ID: 29474920
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.
    Kaplanis J; Akawi N; Gallone G; McRae JF; Prigmore E; Wright CF; Fitzpatrick DR; Firth HV; Barrett JC; Hurles ME;
    Genome Res; 2019 Jul; 29(7):1047-1056. PubMed ID: 31227601
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.
    Ropers HH; Wienker T
    Eur J Med Genet; 2015 Dec; 58(12):715-8. PubMed ID: 26506440
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
    Hunt D; Leventer RJ; Simons C; Taft R; Swoboda KJ; Gawne-Cain M; ; Magee AC; Turnpenny PD; Baralle D
    J Med Genet; 2014 Dec; 51(12):806-13. PubMed ID: 25342064
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo mutations in regulatory elements in neurodevelopmental disorders.
    Short PJ; McRae JF; Gallone G; Sifrim A; Won H; Geschwind DH; Wright CF; Firth HV; FitzPatrick DR; Barrett JC; Hurles ME
    Nature; 2018 Mar; 555(7698):611-616. PubMed ID: 29562236
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
    Rivière JB; van Bon BW; Hoischen A; Kholmanskikh SS; O'Roak BJ; Gilissen C; Gijsen S; Sullivan CT; Christian SL; Abdul-Rahman OA; Atkin JF; Chassaing N; Drouin-Garraud V; Fry AE; Fryns JP; Gripp KW; Kempers M; Kleefstra T; Mancini GM; Nowaczyk MJ; van Ravenswaaij-Arts CM; Roscioli T; Marble M; Rosenfeld JA; Siu VM; de Vries BB; Shendure J; Verloes A; Veltman JA; Brunner HG; Ross ME; Pilz DT; Dobyns WB
    Nat Genet; 2012 Feb; 44(4):440-4, S1-2. PubMed ID: 22366783
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
    Lohmann K; Masuho I; Patil DN; Baumann H; Hebert E; Steinrücke S; Trujillano D; Skamangas NK; Dobricic V; Hüning I; Gillessen-Kaesbach G; Westenberger A; Savic-Pavicevic D; Münchau A; Oprea G; Klein C; Rolfs A; Martemyanov KA
    Hum Mol Genet; 2017 Mar; 26(6):1078-1086. PubMed ID: 28087732
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
    Coe BP; Stessman HAF; Sulovari A; Geisheker MR; Bakken TE; Lake AM; Dougherty JD; Lein ES; Hormozdiari F; Bernier RA; Eichler EE
    Nat Genet; 2019 Jan; 51(1):106-116. PubMed ID: 30559488
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.
    Wang B; Ji T; Zhou X; Wang J; Wang X; Wang J; Zhu D; Zhang X; Sham PC; Zhang X; Ma X; Jiang Y
    Sci Rep; 2016 Jun; 6():25954. PubMed ID: 27257017
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.
    Bishop SL; Farmer C; Bal V; Robinson EB; Willsey AJ; Werling DM; Havdahl KA; Sanders SJ; Thurm A
    Am J Psychiatry; 2017 Jun; 174(6):576-585. PubMed ID: 28253736
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
    Dhamija R; Graham JM; Smaoui N; Thorland E; Kirmani S
    Eur J Med Genet; 2014 Mar; 57(4):181-4. PubMed ID: 24583203
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
    Campbell IM; Yuan B; Robberecht C; Pfundt R; Szafranski P; McEntagart ME; Nagamani SC; Erez A; Bartnik M; Wiśniowiecka-Kowalnik B; Plunkett KS; Pursley AN; Kang SH; Bi W; Lalani SR; Bacino CA; Vast M; Marks K; Patton M; Olofsson P; Patel A; Veltman JA; Cheung SW; Shaw CA; Vissers LE; Vermeesch JR; Lupski JR; Stankiewicz P
    Am J Hum Genet; 2014 Aug; 95(2):173-82. PubMed ID: 25087610
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.
    Belyeu JR; Brand H; Wang H; Zhao X; Pedersen BS; Feusier J; Gupta M; Nicholas TJ; Brown J; Baird L; Devlin B; Sanders SJ; Jorde LB; Talkowski ME; Quinlan AR
    Am J Hum Genet; 2021 Apr; 108(4):597-607. PubMed ID: 33675682
    [TBL] [Abstract][Full Text] [Related]  

  • 15. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
    Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X
    Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
    Popp B; Støve SI; Endele S; Myklebust LM; Hoyer J; Sticht H; Azzarello-Burri S; Rauch A; Arnesen T; Reis A
    Eur J Hum Genet; 2015 May; 23(5):602-9. PubMed ID: 25099252
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.
    Chen S; Fragoza R; Klei L; Liu Y; Wang J; Roeder K; Devlin B; Yu H
    Nat Genet; 2018 Jul; 50(7):1032-1040. PubMed ID: 29892012
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
    Powis Z; Petrik I; Cohen JS; Escolar D; Burton J; van Ravenswaaij-Arts CMA; Sival DA; Stegmann APA; Kleefstra T; Pfundt R; Chikarmane R; Begtrup A; Huether R; Tang S; Shinde DN
    Clin Genet; 2018 May; 93(5):1030-1038. PubMed ID: 29251763
    [TBL] [Abstract][Full Text] [Related]  

  • 19. DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
    Swaminathan GJ; Bragin E; Chatzimichali EA; Corpas M; Bevan AP; Wright CF; Carter NP; Hurles ME; Firth HV
    Hum Mol Genet; 2012 Oct; 21(R1):R37-44. PubMed ID: 22962312
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.
    Lelieveld SH; Wiel L; Venselaar H; Pfundt R; Vriend G; Veltman JA; Brunner HG; Vissers LELM; Gilissen C
    Am J Hum Genet; 2017 Sep; 101(3):478-484. PubMed ID: 28867141
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.