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Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Published in:
Human Genetics, 2024, v. 143, n. 11, p. 1379, doi. 10.1007/s00439-024-02706-w
By:
- Velde, Hedwig M.;
- Vaseghi-Shanjani, Maryam;
- Smits, Jeroen J.;
- Ramakrishnan, Gayatri;
- Oostrik, Jaap;
- Wesdorp, Mieke;
- Astuti, Galuh;
- Yntema, Helger G.;
- Hoefsloot, Lies;
- Lanting, Cris P.;
- Huynen, Martijn A.;
- Lehman, Anna;
- Turvey, Stuart E.;
- Aten, E.;
- van den Boogaard, M. J.;
- Cals, F. L. J.;
- van Dooren, M. F.;
- Ebbens, F. A.;
- Feenstra, I.;
- Free, R. H.
Publication type:
Article
Clinical geneticists' views on and experiences with unsolicited findings in next‐generation sequencing: "A great technology creating new dilemmas".
Published in:
Journal of Genetic Counseling, 2023, v. 32, n. 2, p. 387, doi. 10.1002/jgc4.1647
By:
- van der Schoot, Vyne;
- Damsté, Carlijn;
- Yntema, Helger G.;
- Brunner, Han G.;
- Oerlemans, Anke J. M.
Publication type:
Article
Phenotypic and molecular insights into CASK-related disorders in males.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0256-3
By:
- Moog, Ute;
- Bierhals, Tatjana;
- Brand, Kristina;
- Bautsch, Jan;
- Biskup, Saskia;
- Brune, Thomas;
- Denecke, Jonas;
- de Die-Smulders, Christine E.;
- Evers, Christina;
- Hempel, Maja;
- Henneke, Marco;
- Yntema, Helger;
- Menten, Björn;
- Pietz, Joachim;
- Pfundt, Rolph;
- Schmidtke, Jörg;
- Steinemann, Doris;
- Stumpel, Constance T.;
- Van Maldergem, Lionel;
- Kutsche, Kerstin
Publication type:
Article
Phenotypic and molecular insights into CASK-related disorders in males.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 44, doi. 10.1186/s13023-015-0256-3
By:
- Moog, Ute;
- Bierhals, Tatjana;
- Brand, Kristina;
- Bautsch, Jan;
- Biskup, Saskia;
- Brune, Thomas;
- Denecke, Jonas;
- de Die-Smulders, Christine E;
- Evers, Christina;
- Hempel, Maja;
- Henneke, Marco;
- Yntema, Helger;
- Menten, Björn;
- Pietz, Joachim;
- Pfundt, Rolph;
- Schmidtke, Jörg;
- Steinemann, Doris;
- Stumpel, Constance T;
- Van Maldergem, Lionel;
- Kutsche, Kerstin
Publication type:
Article
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6419, doi. 10.3390/ijms22126419
By:
- Reurink, Janine;
- Dockery, Adrian;
- Oziębło, Dominika;
- Farrar, G. Jane;
- Ołdak, Monika;
- ten Brink, Jacoline B.;
- Bergen, Arthur A.;
- Rinne, Tuula;
- Yntema, Helger G.;
- Pennings, Ronald J. E.;
- van den Born, L. Ingeborgh;
- Aben, Marco;
- Oostrik, Jaap;
- Venselaar, Hanka;
- Plomp, Astrid S.;
- Khan, M. Imran;
- van Wijk, Erwin;
- Cremers, Frans P. M.;
- Roosing, Susanne;
- Kremer, Hannie
Publication type:
Article
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Published in:
Human Genetics, 2024, v. 143, n. 5, p. 721, doi. 10.1007/s00439-024-02648-3
By:
- Colbert, Brett M.;
- Lanting, Cris;
- Smeal, Molly;
- Blanton, Susan;
- Dykxhoorn, Derek M.;
- Tang, Pei-Ciao;
- Getchell, Richard L.;
- Velde, Hedwig;
- Fehrmann, Mirthe;
- Thorpe, Ryan;
- Chapagain, Prem;
- Elkhaligy, Heidy;
- Kremer, Hannie;
- Yntema, Helger;
- Haer-Wigman, Lonneke;
- Redfield, Shelby;
- Sun, Tieqi;
- Bruijn, Saskia;
- Plomp, Astrid;
- Goderie, Thadé
Publication type:
Article
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Published in:
Human Genetics, 2022, v. 141, n. 11, p. 1723, doi. 10.1007/s00439-022-02441-0
By:
- Velde, Hedwig M.;
- Reurink, Janine;
- Held, Sebastian;
- Li, Catherina H. Z.;
- Yzer, Suzanne;
- Oostrik, Jaap;
- Weeda, Jack;
- Haer-Wigman, Lonneke;
- Yntema, Helger G.;
- Roosing, Susanne;
- Pauleikhoff, Laurenz;
- Lange, Clemens;
- Whelan, Laura;
- Dockery, Adrian;
- Zhu, Julia;
- Keegan, David J.;
- Farrar, G. Jane;
- Kremer, Hannie;
- Lanting, Cornelis P.;
- Damme, Markus
Publication type:
Article
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1481
By:
- Geerts‐Haages, Amber;
- Bossuyt, Stijn N. V.;
- Besten, Inge;
- Bruggenwirth, Hennie;
- Burgt, Ineke;
- Yntema, Helger G.;
- Punt, A. Mattijs;
- Brooks, Alice;
- Elgersma, Ype;
- Distel, Ben;
- Valstar, Marlies
Publication type:
Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Published in:
Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
By:
- Schobers, Gaby;
- Schieving, Jolanda H.;
- Yntema, Helger G.;
- Pennings, Maartje;
- Pfundt, Rolph;
- Derks, Ronny;
- Hofste, Tom;
- de Wijs, Ilse;
- Wieskamp, Nienke;
- van den Heuvel, Simone;
- Galbany, Jordi Corominas;
- Gilissen, Christian;
- Nelen, Marcel;
- Brunner, Han G.;
- Kleefstra, Tjitske;
- Kamsteeg, Erik-Jan;
- Willemsen, Michèl A. A. P.;
- Vissers, Lisenka E. L. M.
Publication type:
Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
By:
- Schobers, Gaby;
- Schieving, Jolanda H.;
- Yntema, Helger G.;
- Pennings, Maartje;
- Pfundt, Rolph;
- Derks, Ronny;
- Hofste, Tom;
- de Wijs, Ilse;
- Wieskamp, Nienke;
- van den Heuvel, Simone;
- Galbany, Jordi Corominas;
- Gilissen, Christian;
- Nelen, Marcel;
- Brunner, Han G.;
- Kleefstra, Tjitske;
- Kamsteeg, Erik-Jan;
- Willemsen, Michèl A. A. P.;
- Vissers, Lisenka E. L. M.
Publication type:
Article
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 627, doi. 10.1002/ajmg.a.36309
By:
- Vanderver, Adeline;
- Tonduti, Davide;
- Kahn, Ilana;
- Schmidt, Johanna;
- Medne, Livija;
- Vento, Jodie;
- Chapman, Kimberly A.;
- Lanpher, Brendan;
- Pearl, Phillip;
- Gropman, Andrea;
- Lourenco, Charles;
- Bamforth, John‐Steven;
- Sharpe, Cynthia;
- Pineda, Mercédes;
- Schallner, Jens;
- Bodamer, Olaf;
- Orcesi, Simona;
- Oberstein, Saskia A. J. Lesnik;
- Sistermans, Erik A.;
- Yntema, Helger G.
Publication type:
Article
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 553, doi. 10.1002/ajmg.a.35202
By:
- Thompson, Miles D.;
- Roscioli, Tony;
- Marcelis, Carlo;
- Nezarati, Marjan M.;
- Stolte-Dijkstra, Irene;
- Sharom, Frances J.;
- Lu, Peihua;
- Phillips, John A.;
- Sweeney, Elizabeth;
- Robinson, Peter N.;
- Krawitz, Peter;
- Yntema, Helger G.;
- Andrade, Danielle M.;
- Brunner, Han G.;
- Cole, David E.C.
Publication type:
Article
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 455, doi. 10.1002/ajmg.a.34428
By:
- Moran, Rocio;
- Kuilenburg, André B.P.;
- Duley, John;
- Nabuurs, Sander B.;
- Retno-Fitri, Aditia;
- Christodoulou, John;
- Roelofsen, Jeroen;
- Yntema, Helger G.;
- Friedman, Neil R.;
- van Bokhoven, Hans;
- de Brouwer, Arjan P.M.
Publication type:
Article
A newborn with overlapping features of AEC and EEC syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3100, doi. 10.1002/ajmg.a.34328
By:
- Celik, Tolga Hasan;
- Buyukcam, Ayse;
- Simsek-Kiper, Pelin Ozlem;
- Utine, Gulen Eda;
- Ersoy-Evans, Sibel;
- Korkmaz, Ayse;
- Yntema, Helger G.;
- Bodugroglu, Koray;
- Yurdakok, Murat
Publication type:
Article
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Published in:
Nature Genetics, 2014, v. 46, n. 4, p. 380, doi. 10.1038/ng.2899
By:
- Helsmoortel, Céline;
- Vulto-van Silfhout, Anneke T;
- Coe, Bradley P;
- Vandeweyer, Geert;
- Rooms, Liesbeth;
- van den Ende, Jenneke;
- Schuurs-Hoeijmakers, Janneke H M;
- Marcelis, Carlo L;
- Willemsen, Marjolein H;
- Vissers, Lisenka E L M;
- Yntema, Helger G;
- Bakshi, Madhura;
- Wilson, Meredith;
- Witherspoon, Kali T;
- Malmgren, Helena;
- Nordgren, Ann;
- Annerén, Göran;
- Fichera, Marco;
- Bosco, Paolo;
- Romano, Corrado
Publication type:
Article
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Published in:
Nature Genetics, 2002, v. 30, n. 4, p. 436, doi. 10.1038/ng857
By:
- Meloni, Ilaria;
- Muscettola, Maddalena;
- Raynaud, Martine;
- Longo, Ilaria;
- Bruttini, Mirella;
- Moizard, Marie-Pierre;
- Gomot, Marie;
- Chelly, Jamel;
- des Portes, Vincent;
- Fryns, Jean-Pierre;
- Ropers, Hans-Hilger;
- Magi, Barbara;
- Bellan, Cristina;
- Volpi, Nila;
- Yntema, Helger G.;
- Lewis, Sarah E.;
- Schaffer, Jean E.;
- Renieri, Alessandra
Publication type:
Article
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
Published in:
Nature Genetics, 2000, v. 26, n. 2, p. 247, doi. 10.1038/80002
By:
- Kutsche, Kerstin;
- Yntema, Helger;
- Brandt, Alexander;
- Jantke, Inka;
- Gerd Nothwang, Hans;
- Orth, Ulrike;
- Boavida, Maria G.;
- David, Dezsö;
- Chelly, Jamel;
- Fryns, Jean-Pierre;
- Moraine, Claude;
- Ropers, Hans-Hilger;
- Hamel, Ben C.J.;
- van Bokhoven, Hans;
- Gal, Andreas
Publication type:
Article
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Published in:
Human Genetics, 2019, v. 138, n. 1, p. 61, doi. 10.1007/s00439-018-1965-1
By:
- DOOFNL Consortium;
- Beynon, Andy J.;
- Admiraal, Ronald J. C.;
- Lanting, Cornelis P.;
- Smits, Jeroen J.;
- Oostrik, Jaap;
- Pennings, Ronald J. E.;
- Kremer, Hannie;
- Schraders, Margit;
- Yntema, Helger G.;
- Kant, Sarina G.;
- de Koning Gans, Pia A. M.;
- Rotteveel, Liselotte J. C.;
- Klein Wassink-Ruiter, Jolien S.;
- Free, Rolien H.;
- Maas, Saskia M.;
- van de Kamp, Jiddeke;
- Merkus, Paul;
- Koole, Wouter;
- Feenstra, Ilse
Publication type:
Article
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00334-9
By:
- Haer-Wigman, Lonneke;
- den Ouden, Amber;
- van Genderen, Maria M.;
- Kroes, Hester Y.;
- Verheij, Joke;
- Smailhodzic, Dzenita;
- Hoekstra, Attje S.;
- Vijzelaar, Raymon;
- Blom, Jan;
- Derks, Ronny;
- Tjon-Pon-Fong, Menno;
- Yntema, Helger G.;
- Nelen, Marcel R.;
- Vissers, Lisenka E.L.M.;
- Lugtenberg, Dorien;
- Neveling, Kornelia
Publication type:
Article
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12435-8
By:
- Guo, Hui;
- Bettella, Elisa;
- Marcogliese, Paul C.;
- Zhao, Rongjuan;
- Andrews, Jonathan C.;
- Nowakowski, Tomasz J.;
- Gillentine, Madelyn A.;
- Hoekzema, Kendra;
- Wang, Tianyun;
- Wu, Huidan;
- Jangam, Sharayu;
- Liu, Cenying;
- Ni, Hailun;
- Willemsen, Marjolein H.;
- van Bon, Bregje W.;
- Rinne, Tuula;
- Stevens, Servi J. C.;
- Kleefstra, Tjitske;
- Brunner, Han G.;
- Yntema, Helger G.
Publication type:
Article
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 6, p. 803, doi. 10.1038/ejhg.2014.173
By:
- Beunders, Gea;
- de Munnik, Sonja A;
- Van der Aa, Nathalie;
- Ceulemans, Berten;
- Voorhoeve, Els;
- Groffen, Alexander J;
- Nillesen, Willy M;
- Meijers-Heijboer, Elizabeth J;
- Frank Kooy, R;
- Yntema, Helger G;
- Sistermans, Erik A
Publication type:
Article
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 3, p. 317, doi. 10.1038/ejhg.2014.115
By:
- Vissers, Lisenka ELM;
- Bonetti, Monica;
- Paardekooper Overman, Jeroen;
- Nillesen, Willy M;
- Frints, Suzanna G M;
- de Ligt, Joep;
- Zampino, Giuseppe;
- Justino, Ana;
- Machado, José C;
- Schepens, Marga;
- Brunner, Han G;
- Veltman, Joris A;
- Scheffer, Hans;
- Gros, Piet;
- Costa, José L;
- Tartaglia, Marco;
- van der Burgt, Ineke;
- Yntema, Helger G;
- den Hertog, Jeroen
Publication type:
Article
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169
By:
- de Brouwer, Arjan PM;
- Nabuurs, Sander B;
- Verhaart, Ingrid EC;
- Oudakker, Astrid R;
- Hordijk, Roel;
- Yntema, Helger G;
- Hordijk-Hos, Jannet M;
- Voesenek, Krysta;
- de Vries, Bert BA;
- van Essen, Ton;
- Chen, Wei;
- Hu, Hao;
- Chelly, Jamel;
- den Dunnen, Johan T;
- Kalscheuer, Vera M;
- Aartsma-Rus, Annemieke M;
- Hamel, Ben CJ;
- van Bokhoven, Hans;
- Kleefstra, Tjitske
Publication type:
Article
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 9, p. 936, doi. 10.1038/ejhg.2012.285
By:
- Croonen, Ellen A;
- Nillesen, Willy M;
- Stuurman, Kyra E;
- Oudesluijs, Gretel;
- van de Laar, Ingrid M B M;
- Martens, Liesbeth;
- Ockeloen, Charlotte;
- Mathijssen, Inge B;
- Schepens, Marga;
- Ruiterkamp-Versteeg, Martina;
- Scheffer, Hans;
- Faas, Brigitte H W;
- van der Burgt, Ineke;
- Yntema, Helger G
Publication type:
Article
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 3, p. 263, doi. 10.1038/ejhg.2011.189
By:
- Glaudemans, Bob;
- Yntema, Helger G;
- San-Cristobal, Pedro;
- Schoots, Jeroen;
- Pfundt, Rolph;
- Kamsteeg, Erik-J;
- Bindels, René J;
- Knoers, Nine VAM;
- Hoenderop, Joost G;
- Hoefsloot, Lies H
Publication type:
Article
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1152, doi. 10.1038/ejhg.2011.120
By:
- Feenstra, Ilse;
- Hanemaaijer, Nicolien;
- Sikkema-Raddatz, Birgit;
- Yntema, Helger;
- Dijkhuizen, Trijnie;
- Lugtenberg, Dorien;
- Verheij, Joke;
- Green, Andrew;
- Hordijk, Roel;
- Reardon, William;
- Vries, Bert de;
- Brunner, Han;
- Bongers, Ernie;
- Leeuw, Nicole de;
- van Ravenswaaij-Arts, Conny
Publication type:
Article
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 8, p. 870, doi. 10.1038/ejhg.2011.37
By:
- Jongmans, Marjolijn C. J.;
- van der Burgt, Ineke;
- Hoogerbrugge, Peter M.;
- Noordam, Kees;
- Yntema, Helger G.;
- Nillesen, Willy M.;
- Kuiper, Roland P.;
- Ligtenberg, Marjolijn J. L.;
- van Kessel, Ad Geurts;
- van Krieken, J. Han J. M.;
- Kiemeney, Lambertus A. L. M.;
- Hoogerbrugge, Nicoline
Publication type:
Article
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
Published in:
2009
By:
- Lugtenberg, Dorien;
- Kleefstra, Tjitske;
- Oudakker, Astrid R.;
- Nillesen, Willy M;
- Yntema, Helger G.;
- Tzschach, Andreas;
- Raynaud, Martine;
- Rating, Dietz;
- Journel, Hubert;
- Chelly, Jamel;
- Goizet, Cyril;
- Lacombe, Didier;
- Pedespan, Jean-Michel;
- Echenne, Bernard;
- Tariverdian, Gholamali;
- O'Rourke, Declan;
- King, Mary D.;
- Green, Andrew;
- van Kogelenberg, Margriet;
- Van Esch, Hilde
Publication type:
Correction Notice
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 444, doi. 10.1038/ejhg.2008.208
By:
- Lugtenberg, Dorien;
- Kleefstra, Tjitske;
- Oudakker, Astrid R.;
- Nillesen, Willy M.;
- Yntema, Helger G.;
- Tzschach, Andreas;
- Raynaud, Martine;
- Rating, Dietz;
- Journel, Hubert;
- Chelly, Jamel;
- Goizet, Cyril;
- Lacombe, Didier;
- Pedespan, Jean-Michel;
- Echenne, Bernard;
- Tariverdian, Gholamali;
- O'Rourke, Declan;
- King, Mary D;
- Green, Andrew;
- van Kogelenberg, Margriet;
- Van Esch, Hilde
Publication type:
Article
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 1, p. 24, doi. 10.1038/sj.ejhg.5201080
By:
- Kleefstra, Tjitske;
- Yntema, Helger G.;
- Nillesen, Willy M.;
- Oudakker, Astrid R.;
- Mullaart, Reinier A.;
- Geerdink, Niels;
- Bokhoven, Hans van;
- de Vries, Bert B.A.;
- Sistermans, Erik A.;
- Hamel, Ben C.J.
Publication type:
Article
SINDROMUL LEOPARD. CAZURI FAMILIALE.
Published in:
Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2014, v. 63, n. 1, p. 109
By:
- Iurian, Sorin Ioan;
- Brunner, Han;
- Yntema, Helger;
- Mehedințu, Bogdan
Publication type:
Article
LEOPARD SYNDROME. FAMILIAL CASES.
Published in:
Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2014, v. 63, n. 1, p. 57
By:
- Iurian, Sorin Ioan;
- Brunner, Han;
- Yntema, Helger;
- Mehedintu, Bogdan
Publication type:
Article
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 1, p. 155, doi. 10.1111/epi.14618
By:
- Snoeijen‐Schouwenaars, Francesca M.;
- van Ool, Jans S.;
- Tan, In Y.;
- Verhoeven, Judith S.;
- Mierlo, Petra;
- Braakman, Hilde M. H.;
- Schelhaas, Helenius J.;
- Nicolai, Joost;
- Smeets, Eric E.;
- Stegmann, Alexander P.;
- Brunner, Han G.;
- Willemsen, Marjolein H.;
- Rouhl, Rob P. W.;
- Schoots, Jeroen;
- Yntema, Helger G.;
- Pfundt, Rolph;
- Kamsteeg, Erik‐Jan;
- Teunissen, Mariel W. A.
Publication type:
Article
A mother and son with Noonan syndrome resulting from a PTPN1 1 mutation: first report of molecularly proven cases from Turkey.
Published in:
Turkish Journal of Pediatrics, 2010, v. 52, n. 3, p. 321
By:
- Demir, Korcan;
- Yntema, Helger G.;
- Altıncık, Ayça;
- Böber, Ece
Publication type:
Article
Antimongoloid as a pejorative term.
Published in:
2014
By:
- Masukume, Gwinyai;
- Nosan, Gregor;
- Bertok, Sara;
- Vesel, Samo;
- Yntema, Helger G.;
- Paro-Panjan, Darja
Publication type:
Letter to the Editor
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.
Published in:
2013
By:
- Nosan, Gregor;
- Bertok, Sara;
- Vesel, Samo;
- Yntema, Helger G.;
- Paro-Panjan, Darja
Publication type:
Case Study
Trends in genetic diagnostics of hereditary hearing loss.
Published in:
2016
By:
- Pennings, Ronald;
- Seco, Celia Zazo;
- Wesdorp, Mieke;
- Feenstra, Ilse;
- Kremer, Hannie;
- Hoefsloot, Lies;
- Schraders, Margit;
- Yntema, Helger G.
Publication type:
Abstract
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Published in:
Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00485-5
By:
- Yaldiz, Burcu;
- Kucuk, Erdi;
- Hampstead, Juliet;
- Hofste, Tom;
- Pfundt, Rolph;
- Corominas Galbany, Jordi;
- Rinne, Tuula;
- Yntema, Helger G.;
- Hoischen, Alexander;
- Nelen, Marcel;
- Gilissen, Christian;
- Solve-RD consortium;
- Riess, Olaf;
- Haack, Tobias B.;
- Graessner, Holm;
- Zurek, Birte;
- Ellwanger, Kornelia;
- Ossowski, Stephan;
- Demidov, German;
- Sturm, Marc
Publication type:
Article
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.
Published in:
Familial Cancer, 2014, v. 13, n. 1, p. 57, doi. 10.1007/s10689-013-9674-3
By:
- Nieuwenhuis, Marry;
- Kets, C.;
- Murphy-Ryan, Maureen;
- Yntema, Helger;
- Evans, D.;
- Colas, Chrystelle;
- Møller, Pal;
- Hes, Frederik;
- Hodgson, Shirley;
- Olderode-Berends, Maran;
- Aretz, Stefan;
- Heinimann, Karl;
- Gómez García, Encarna;
- Douglas, Fiona;
- Spigelman, Allan;
- Timshel, Susanne;
- Lindor, Noralane;
- Vasen, Hans
Publication type:
Article
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.
Published in:
Genes, Chromosomes & Cancer, 2010, v. 49, n. 7, p. 635, doi. 10.1002/gcc.20773
By:
- Jongmans, Marjolijn C. J.;
- Hoogerbrugge, Peter M.;
- Hilkens, Linda;
- Flucke, Uta;
- van der Burgt, Ineke;
- Noordam, Kees;
- Ruiterkamp-Versteeg, Martina;
- Yntema, Helger G.;
- Nillesen, Willy M.;
- Ligtenberg, Marjolijn J. L.;
- van Kessel, Ad Geurts;
- Kuiper, Roland P.;
- Hoogerbrugge, Nicoline
Publication type:
Article
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Published in:
American Journal of Hematology, 2014, v. 89, n. 3, p. 315, doi. 10.1002/ajh.23616
By:
- Campagna, Dean R.;
- Bie, Charlotte I.;
- Schmitz-Abe, Klaus;
- Sweeney, Marion;
- Sendamarai, Anoop K.;
- Schmidt, Paul J.;
- Heeney, Matthew M.;
- Yntema, Helger G.;
- Kannengiesser, Caroline;
- Grandchamp, Bernard;
- Niemeyer, Charlotte M.;
- Knoers, Nine V.A.M.;
- Swart, Sonia;
- Marron, Gordon;
- Wijk, Richard;
- Raymakers, Reinier A.;
- May, Alison;
- Markianos, Kyriacos;
- Bottomley, Sylvia S.;
- Swinkels, Dorine W.
Publication type:
Article
Genome sequencing identifies major causes of severe intellectual disability.
Published in:
Nature, 2014, v. 511, n. 7509, p. 344, doi. 10.1038/nature13394
By:
- Gilissen, Christian;
- Hehir-Kwa, Jayne Y.;
- Thung, Djie Tjwan;
- van de Vorst, Maartje;
- van Bon, Bregje W. M.;
- Willemsen, Marjolein H.;
- Kwint, Michael;
- Janssen, Irene M.;
- Hoischen, Alexander;
- Schenck, Annette;
- Leach, Richard;
- Klein, Robert;
- Tearle, Rick;
- Bo, Tan;
- Pfundt, Rolph;
- Yntema, Helger G.;
- de Vries, Bert B. A.;
- Kleefstra, Tjitske;
- Brunner, Han G.;
- Vissers, Lisenka E. L. M.
Publication type:
Article
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.
Published in:
Nucleic Acids Research, 2022, v. 50, n. 17, p. e97, doi. 10.1093/nar/gkac511
By:
- Khazeeva, Gelana;
- Sablauskas, Karolis;
- van der Sanden, Bart;
- Steyaert, Wouter;
- Kwint, Michael;
- Rots, Dmitrijs;
- Hinne, Max;
- van Gerven, Marcel;
- Yntema, Helger;
- Vissers, Lisenka;
- Gilissen, Christian
Publication type:
Article
Clinical Phenotype of 5 Females With a CDKL5 Mutation.
Published in:
2012
By:
- Stalpers, Xenia L.;
- Spruijt, Liesbeth;
- Yntema, Helger G.;
- Verrips, Aad
Publication type:
Case Study
Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.
Published in:
Prenatal Diagnosis, 2024, v. 44, n. 11, p. 1304, doi. 10.1002/pd.6595
By:
- Smeekens, Sanne P.;
- Leferink, Maike.;
- Yntema, Helger G.;
- Kamsteeg, Erik‐Jan
Publication type:
Article
Clinical exome sequencing—Mistakes and caveats.
Published in:
Human Mutation, 2022, v. 43, n. 8, p. 1041, doi. 10.1002/humu.24360
By:
- Corominas, Jordi;
- Smeekens, Sanne P.;
- Nelen, Marcel R.;
- Yntema, Helger G.;
- Kamsteeg, Erik‐Jan;
- Pfundt, Rolph;
- Gilissen, Christian
Publication type:
Article
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases.
Published in:
Human Mutation, 2013, v. 34, n. 12, p. 1721, doi. 10.1002/humu.22450
By:
- Neveling, Kornelia;
- Feenstra, Ilse;
- Gilissen, Christian;
- Hoefsloot, Lies H.;
- Kamsteeg, Erik‐Jan;
- Mensenkamp, Arjen R.;
- Rodenburg, Richard J. T.;
- Yntema, Helger G.;
- Spruijt, Liesbeth;
- Vermeer, Sascha;
- Rinne, Tuula;
- Gassen, Koen L.;
- Bodmer, Danielle;
- Lugtenberg, Dorien;
- Reuver, Rick;
- Buijsman, Wendy;
- Derks, Ronny C.;
- Wieskamp, Nienke;
- Heuvel, Bert;
- Ligtenberg, Marjolijn J.L.
Publication type:
Article
Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics.
Published in:
Human Mutation, 2013, v. 34, n. 10, p. 1322, doi. 10.1002/humu.22370
By:
- Rigter, Tessel;
- Henneman, Lidewij;
- Kristoffersson, Ulf;
- Hall, Alison;
- Yntema, Helger G.;
- Borry, Pascal;
- Tönnies, Holger;
- Waisfisz, Quinten;
- Elting, Mariet W.;
- Dondorp, Wybo J.;
- Cornel, Martina C.
Publication type:
Article
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
Published in:
Human Mutation, 2011, v. 32, n. 7, p. 853, doi. 10.1002/humu.21523
By:
- Nillesen, Willy M.;
- Yntema, Helger G.;
- Moscarda, Marco;
- Verbeek, Nienke E.;
- Wilson, Louise C.;
- Cowan, Frances;
- Schepens, Marga;
- Raas-Rothschild, Annick;
- Gafni-Weinstein, Orly;
- Zollino, Marcella;
- Vijzelaar, Raymon;
- Neri, Giovanni;
- Nelen, Marcel;
- Bokhoven, Hans van;
- Giltay, Jacques;
- Kleefstra, Tjitske
Publication type:
Article
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
Published in:
Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482
By:
- de Brouwer, Arjan P.M.;
- Yntema, Helger G.;
- Kleefstra, Tjitske;
- Lugtenberg, Dorien;
- Oudakker, Astrid R.;
- de Vries, Bert B.A.;
- van Bokhoven, Hans;
- Van Esch, Hilde;
- Frints, Suzanne G.M.;
- Froyen, Guy;
- Fryns, Jean-Pierre;
- Raynaud, Martine;
- Moizard, Marie-Pierre;
- Ronce, Nathalie;
- Bensalem, Anissa;
- Moraine, Claude;
- Poirier, Karine;
- Castelnau, Laetitia;
- Saillour, Yoann;
- Bienvenu, Thierry
Publication type:
Article

Found: 57