BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

591 related articles for article (PubMed ID: 30526868)

  • 1. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
    Stephen J; Maddirevula S; Nampoothiri S; Burke JD; Herzog M; Shukla A; Steindl K; Eskin A; Patil SJ; Joset P; Lee H; Garrett LJ; Yokoyama T; Balanda N; Bodine SP; Tolman NJ; Zerfas PM; Zheng A; Ramantani G; Girisha KM; Rivas C; Suresh PV; Elkahloun A; Alsaif HS; Wakil SM; Mahmoud L; Ali R; Prochazkova M; ; Kulkarni AB; Ben-Omran T; Colak D; Morris HD; Rauch A; Martinez-Agosto JA; Nelson SF; Alkuraya FS; Gahl WA; Malicdan MCV
    Am J Hum Genet; 2018 Dec; 103(6):948-967. PubMed ID: 30526868
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
    Fan Y; Yin W; Hu B; Kline AD; Zhang VW; Liang D; Sun Y; Wang L; Tang S; Powis Z; Li L; Yan H; Shi Z; Yang X; Chen Y; Wang J; Jiang Y; Tan H; Gu X; Wu L; Yu Y
    Am J Hum Genet; 2018 Sep; 103(3):448-455. PubMed ID: 30122539
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.
    Al-Hamed MH; Alsahan N; Tulbah M; Kurdi W; Ali W; Sayer JA; Imtiaz F
    Genes (Basel); 2020 Aug; 11(9):. PubMed ID: 32825426
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
    Kaiyrzhanov R; Rad A; Lin SJ; Bertoli-Avella A; Kallemeijn WW; Godwin A; Zaki MS; Huang K; Lau T; Petree C; Efthymiou S; Karimiani EG; Hempel M; Normand EA; Rudnik-Schöneborn S; Schatz UA; Baggelaar MP; Ilyas M; Sultan T; Alvi JR; Ganieva M; Fowler B; Aanicai R; Tayfun GA; Al Saman A; Alswaid A; Amiri N; Asilova N; Shotelersuk V; Yeetong P; Azam M; Babaei M; Monajemi GB; Mohammadi P; Samie S; Banu SH; Pinto Basto J; Kortüm F; Bauer M; Bauer P; Beetz C; Garshasbi M; Issa AH; Eyaid W; Ahmed H; Hashemi N; Hassanpour K; Herman I; Ibrohimov S; Abdul-Majeed BA; Imdad M; Isrofilov M; Kaiyal Q; Khan S; Kirmse B; Koster J; Lourenço CM; Mitani T; Moldovan O; Murphy D; Najafi M; Pehlivan D; Rocha ME; Salpietro V; Schmidts M; Shalata A; Mahroum M; Talbeya JK; Taylor RW; Vazquez D; Vetro A; Waterham HR; Zaman M; Schrader TA; Chung WK; Guerrini R; Lupski JR; Gleeson J; Suri M; Jamshidi Y; Bhatia KP; Vona B; Schrader M; Severino M; Guille M; Tate EW; Varshney GK; Houlden H; Maroofian R
    Brain; 2024 Apr; 147(4):1436-1456. PubMed ID: 37951597
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel unconventional variants expand the allelic spectrum of OPHN1 gene.
    Nuovo S; Brankovic V; Caputi C; Casella A; Nigro V; Leuzzi V; Valente EM
    Am J Med Genet A; 2021 May; 185(5):1575-1581. PubMed ID: 33638601
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
    Scala M; Khan K; Beneteau C; Fox RG; von Hardenberg S; Khan A; Joubert M; Fievet L; Musquer M; Le Vaillant C; Holsclaw JK; Lim D; Berking AC; Accogli A; Giacomini T; Nobili L; Striano P; Zara F; Torella A; Nigro V; Cogné B; Salick MR; Kaykas A; Eggan K; Capra V; Bézieau S; Davis EE; Wells MF
    Genet Med; 2024 Apr; 26(4):101057. PubMed ID: 38158856
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
    Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
    Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
    Chao HT; Davids M; Burke E; Pappas JG; Rosenfeld JA; McCarty AJ; Davis T; Wolfe L; Toro C; Tifft C; Xia F; Stong N; Johnson TK; Warr CG; ; Yamamoto S; Adams DR; Markello TC; Gahl WA; Bellen HJ; Wangler MF; Malicdan MCV
    Am J Hum Genet; 2017 Jan; 100(1):128-137. PubMed ID: 28017372
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
    Almannai M; Marafi D; Zaki MS; Maroofian R; Efthymiou S; Saadi NW; Filimban B; Dafsari HS; Rahman F; Maqbool S; Faqeih E; Al Mutairi F; Alsharhan H; Abdelaty O; Bin-Hasan S; Duan R; Noureldeen MM; Alqattan A; Houlden H; Hunter JV; Posey JE; Lupski JR; El-Hattab AW
    Clin Genet; 2024 Jun; 105(6):620-629. PubMed ID: 38356149
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
    Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; ; Campeau PM
    Am J Hum Genet; 2019 Jan; 104(1):164-178. PubMed ID: 30580808
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
    Weiss K; Lazar HP; Kurolap A; Martinez AF; Paperna T; Cohen L; Smeland MF; Whalen S; Heide S; Keren B; Terhal P; Irving M; Takaku M; Roberts JD; Petrovich RM; Schrier Vergano SA; Kenney A; Hove H; DeChene E; Quinonez SC; Colin E; Ziegler A; Rumple M; Jain M; Monteil D; Roeder ER; Nugent K; van Haeringen A; Gambello M; Santani A; Medne L; Krock B; Skraban CM; Zackai EH; Dubbs HA; Smol T; Ghoumid J; Parker MJ; Wright M; Turnpenny P; Clayton-Smith J; Metcalfe K; Kurumizaka H; Gelb BD; Baris Feldman H; Campeau PM; Muenke M; Wade PA; Lachlan K
    Genet Med; 2020 Feb; 22(2):389-397. PubMed ID: 31388190
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
    Rots D; Chater-Diehl E; Dingemans AJM; Goodman SJ; Siu MT; Cytrynbaum C; Choufani S; Hoang N; Walker S; Awamleh Z; Charkow J; Meyn S; Pfundt R; Rinne T; Gardeitchik T; de Vries BBA; Deden AC; Leenders E; Kwint M; Stumpel CTRM; Stevens SJC; Vermeulen JR; van Harssel JVT; Bosch DGM; van Gassen KLI; van Binsbergen E; de Geus CM; Brackel H; Hempel M; Lessel D; Denecke J; Slavotinek A; Strober J; Crunk A; Folk L; Wentzensen IM; Yang H; Zou F; Millan F; Person R; Xie Y; Liu S; Ousager LB; Larsen M; Schultz-Rogers L; Morava E; Klee EW; Berry IR; Campbell J; Lindstrom K; Pruniski B; Neumeyer AM; Radley JA; Phornphutkul C; Schmidt B; Wilson WG; Õunap K; Reinson K; Pajusalu S; van Haeringen A; Ruivenkamp C; Cuperus R; Santos-Simarro F; Palomares-Bralo M; Pacio-Míguez M; Ritter A; Bhoj E; Tønne E; Tveten K; Cappuccio G; Brunetti-Pierri N; Rowe L; Bunn J; Saenz M; Platzer K; Mertens M; Caluseriu O; Nowaczyk MJM; Cohn RD; Kannu P; Alkhunaizi E; Chitayat D; Scherer SW; Brunner HG; Vissers LELM; Kleefstra T; Koolen DA; Weksberg R
    Am J Hum Genet; 2021 Jun; 108(6):1053-1068. PubMed ID: 33909990
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
    Muir AM; Cohen JL; Sheppard SE; Guttipatti P; Lo TY; Weed N; Doherty D; DeMarzo D; Fagerberg CR; Kjærsgaard L; Larsen MJ; Rump P; Löhner K; Hirsch Y; Zeevi DA; Zackai EH; Bhoj E; Song Y; Mefford HC
    Am J Hum Genet; 2020 May; 106(5):623-631. PubMed ID: 32275884
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
    Nabais Sá MJ; El Tekle G; de Brouwer APM; Sawyer SL; Del Gaudio D; Parker MJ; Kanani F; van den Boogaard MH; van Gassen K; Van Allen MI; Wierenga K; Purcarin G; Elias ER; Begtrup A; Keller-Ramey J; Bernasocchi T; van de Wiel L; Gilissen C; Venselaar H; Pfundt R; Vissers LELM; Theurillat JP; de Vries BBA
    Am J Hum Genet; 2020 Mar; 106(3):405-411. PubMed ID: 32109420
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
    Bostwick BL; McLean S; Posey JE; Streff HE; Gripp KW; Blesson A; Powell-Hamilton N; Tusi J; Stevenson DA; Farrelly E; Hudgins L; Yang Y; Xia F; Wang X; Liu P; Walkiewicz M; McGuire M; Grange DK; Andrews MV; Hummel M; Madan-Khetarpal S; Infante E; Coban-Akdemir Z; Miszalski-Jamka K; Jefferies JL; ; Rosenfeld JA; Emrick L; Nugent KM; Lupski JR; Belmont JW; Lee B; Lalani SR
    Genome Med; 2017 Aug; 9(1):73. PubMed ID: 28807008
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
    Chiu ATG; Pei SLC; Mak CCY; Leung GKC; Yu MHC; Lee SL; Vreeburg M; Pfundt R; van der Burgt I; Kleefstra T; Frederic TM; Nambot S; Faivre L; Bruel AL; Rossi M; Isidor B; Küry S; Cogne B; Besnard T; Willems M; Reijnders MRF; Chung BHY
    Clin Genet; 2018 Apr; 93(4):880-890. PubMed ID: 29240241
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
    Rots D; Rooney K; Relator R; Kerkhof J; McConkey H; Pfundt R; Marcelis C; Willemsen MH; van Hagen JM; Zwijnenburg P; Alders M; Õunap K; Reimand T; Fjodorova O; Berland S; Liahjell EB; Bojovic O; Kriek M; Ruivenkamp C; Bonati MT; Brunner HG; Vissers LELM; Sadikovic B; Kleefstra T
    Clin Genet; 2024 Jun; 105(6):655-660. PubMed ID: 38384171
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
    van den Akker WMR; Brummelman I; Martis LM; Timmermans RN; Pfundt R; Kleefstra T; Willemsen MH; Gerkes EH; Herkert JC; van Essen AJ; Rump P; Vansenne F; Terhal PA; van Haelst MM; Cristian I; Turner CE; Cho MT; Begtrup A; Willaert R; Fassi E; van Gassen KLI; Stegmann APA; de Vries BBA; Schuurs-Hoeijmakers JHM
    Clin Genet; 2018 May; 93(5):1000-1007. PubMed ID: 29393965
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
    Tan TY; Gonzaga-Jauregui C; Bhoj EJ; Strauss KA; Brigatti K; Puffenberger E; Li D; Xie L; Das N; Skubas I; Deckelbaum RA; Hughes V; Brydges S; Hatsell S; Siao CJ; Dominguez MG; Economides A; Overton JD; Mayne V; Simm PJ; Jones BO; Eggers S; Le Guyader G; Pelluard F; Haack TB; Sturm M; Riess A; Waldmueller S; Hofbeck M; Steindl K; Joset P; Rauch A; Hakonarson H; Baker NL; Farlie PG
    Am J Hum Genet; 2017 Dec; 101(6):985-994. PubMed ID: 29198724
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
    Usmani MA; Ahmed ZM; Magini P; Pienkowski VM; Rasmussen KJ; Hernan R; Rasheed F; Hussain M; Shahzad M; Lanpher BC; Niu Z; Lim FY; Pippucci T; Ploski R; Kraus V; Matuszewska K; Palombo F; Kianmahd J; ; Martinez-Agosto JA; Lee H; Colao E; Motazacker MM; Brigatti KW; Puffenberger EG; Riazuddin SA; Gonzaga-Jauregui C; Chung WK; Wagner M; Schultz MJ; Seri M; Kievit AJA; Perrotti N; Wassink-Ruiter JSK; van Bokhoven H; Riazuddin S; Riazuddin S
    Am J Hum Genet; 2021 Jul; 108(7):1330-1341. PubMed ID: 34102099
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 30.