Han G. Brunner
AuthID: R-00F-MR9
1
TITLE: Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
AUTHORS: Romy Van de Putte; Iris A L M Van Rooij; Carlo L M Marcelis; Michel H Guo; Han G Brunner; Marie Claude Addor; Clara Cavero Carbonell; Carlos M Dias; Elizabeth S Draper; Larraitz Etxebarriarteun; Miriam Gatt; Martin Haeusler; Babak Khoshnood; Kari Klungsoyr; Jenny J Kurinczuk; Monica Lanzoni; Anna Latos Bielenska; Karen Luyt; Mary T O'Mahony; Nicola Miller; ...More
PUBLISHED: 2020, SOURCE: PEDIATRIC RESEARCH, VOLUME: 87, ISSUE: 3
AUTHORS: Romy Van de Putte; Iris A L M Van Rooij; Carlo L M Marcelis; Michel H Guo; Han G Brunner; Marie Claude Addor; Clara Cavero Carbonell; Carlos M Dias; Elizabeth S Draper; Larraitz Etxebarriarteun; Miriam Gatt; Martin Haeusler; Babak Khoshnood; Kari Klungsoyr; Jenny J Kurinczuk; Monica Lanzoni; Anna Latos Bielenska; Karen Luyt; Mary T O'Mahony; Nicola Miller; ...More
PUBLISHED: 2020, SOURCE: PEDIATRIC RESEARCH, VOLUME: 87, ISSUE: 3
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Maternal risk factors for the VACTERL association: A EUROCAT case-control study
AUTHORS: Romy van de Putte; Iris A L M Van Rooij; Cynthia P Haanappel; Carlo L M Marcelis; Han G Brunner; Marie Claude Addor; Clara Cavero Carbonell; Carlos M Dias; Elizabeth S Draper; Larraitz Etxebarriarteun; Miriam Gatt; Babak Khoshnood; Agnieszka Kinsner Ovaskainen; Kari Klungsoyr; Jenny J Kurinczuk; Anna Latos Bielenska; Karen Luyt; Mary T O'Mahony; Nicola Miller; Carmel Mullaney; ...More
PUBLISHED: 2020, SOURCE: BIRTH DEFECTS RESEARCH, VOLUME: 112, ISSUE: 9
AUTHORS: Romy van de Putte; Iris A L M Van Rooij; Cynthia P Haanappel; Carlo L M Marcelis; Han G Brunner; Marie Claude Addor; Clara Cavero Carbonell; Carlos M Dias; Elizabeth S Draper; Larraitz Etxebarriarteun; Miriam Gatt; Babak Khoshnood; Agnieszka Kinsner Ovaskainen; Kari Klungsoyr; Jenny J Kurinczuk; Anna Latos Bielenska; Karen Luyt; Mary T O'Mahony; Nicola Miller; Carmel Mullaney; ...More
PUBLISHED: 2020, SOURCE: BIRTH DEFECTS RESEARCH, VOLUME: 112, ISSUE: 9
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant Full Text
AUTHORS: David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir Kwa; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 5
AUTHORS: David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir Kwa; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 5
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TITLE: Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing Full Text
AUTHORS: Pedro G Ferreira ; Martin Oti; Matthias Barann; Thomas Wieland; Suzana Ezquina; Marc R Friedländer; Manuel A Rivas; Anna Esteve-Codina; Xavier Estivill; Roderic Guigó; Emmanouil Dermitzakis; Stylianos Antonarakis; Thomas Meitinger; Tim M Strom; Aarno Palotie; Jean François Deleuze; Ralf Sudbrak; Hans Lerach; Ivo Gut; Ann-Christine Syvänen; ...More
PUBLISHED: 2016, SOURCE: SCIENTIFIC REPORTS, VOLUME: 6
AUTHORS: Pedro G Ferreira ; Martin Oti; Matthias Barann; Thomas Wieland; Suzana Ezquina; Marc R Friedländer; Manuel A Rivas; Anna Esteve-Codina; Xavier Estivill; Roderic Guigó; Emmanouil Dermitzakis; Stylianos Antonarakis; Thomas Meitinger; Tim M Strom; Aarno Palotie; Jean François Deleuze; Ralf Sudbrak; Hans Lerach; Ivo Gut; Ann-Christine Syvänen; ...More
PUBLISHED: 2016, SOURCE: SCIENTIFIC REPORTS, VOLUME: 6
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TITLE: Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome Full Text
AUTHORS: Lisenka E L M Vissers; Monica Bonetti; Jeroen Paardekooper Overman; Willy M Nillesen; Suzanna G M Frints; Joep de Ligt; Giuseppe Zampino; Ana Justino; Jose C Machado ; Marga Schepens; Han G Brunner; Joris A Veltman; Hans Scheffer; Piet Gros; Jose L Costa; Marco Tartaglia; Ineke van der Burgt; Helger G Yntema; Jeroen den Hertog;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3
AUTHORS: Lisenka E L M Vissers; Monica Bonetti; Jeroen Paardekooper Overman; Willy M Nillesen; Suzanna G M Frints; Joep de Ligt; Giuseppe Zampino; Ana Justino; Jose C Machado ; Marga Schepens; Han G Brunner; Joris A Veltman; Hans Scheffer; Piet Gros; Jose L Costa; Marco Tartaglia; Ineke van der Burgt; Helger G Yntema; Jeroen den Hertog;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3
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TITLE: DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
AUTHORS: Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hulya Kayserili; Elicia Estrella; Anneke T Vulto van Silfhout; Marloes Steehouwer; Donna M Muzny; Reid R Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; ...More
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 96, ISSUE: 4
AUTHORS: Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hulya Kayserili; Elicia Estrella; Anneke T Vulto van Silfhout; Marloes Steehouwer; Donna M Muzny; Reid R Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; ...More
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 96, ISSUE: 4
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TITLE: Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
AUTHORS: Charlotte W Ockeloen; Marjolein H Willemsen; Sonja de Munnik; Bregje W M van Bon; Nicole de Leeuw; Aad Verrips; Sarina G Kant; Elizabeth A Jones; Han G Brunner; Rosa L E van Loon; Eric E J Smeets; Mieke M van Haelst; Gijs van Haaften; Ann Nordgren; Helena Malmgren; Giedre Grigelioniene; Sascha Vermeer; Pedro Louro ; Lina Ramos; Thomas J J Maal; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
AUTHORS: Charlotte W Ockeloen; Marjolein H Willemsen; Sonja de Munnik; Bregje W M van Bon; Nicole de Leeuw; Aad Verrips; Sarina G Kant; Elizabeth A Jones; Han G Brunner; Rosa L E van Loon; Eric E J Smeets; Mieke M van Haelst; Gijs van Haaften; Ann Nordgren; Helena Malmgren; Giedre Grigelioniene; Sascha Vermeer; Pedro Louro ; Lina Ramos; Thomas J J Maal; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
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TITLE: Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
AUTHORS: Kaiser, FJ; Ansari, M; Braunholz, D; Gil Rodriguez, MC; Decroos, C; Wilde, JJ; Fincher, CT; Kaur, M; Bando, M; Amor, DJ; Atwal, PS; Bahlo, M; Bowman, CM; Bradley, JJ; Brunner, HG; Clark, D; Campo, MD; Di Donato, N; Diakumis, P; Dubbs, H; ...More
PUBLISHED: 2014, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 23, ISSUE: 11
AUTHORS: Kaiser, FJ; Ansari, M; Braunholz, D; Gil Rodriguez, MC; Decroos, C; Wilde, JJ; Fincher, CT; Kaur, M; Bando, M; Amor, DJ; Atwal, PS; Bahlo, M; Bowman, CM; Bradley, JJ; Brunner, HG; Clark, D; Campo, MD; Di Donato, N; Diakumis, P; Dubbs, H; ...More
PUBLISHED: 2014, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 23, ISSUE: 11
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TITLE: Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa Full Text
AUTHORS: Thatjana Gardeitchik; Miski Mohamed; Bjoern Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki Joong Kim; Bing C Lim; Johannes Haeberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leao; Riikka Keski Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; ...More
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 7
AUTHORS: Thatjana Gardeitchik; Miski Mohamed; Bjoern Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki Joong Kim; Bing C Lim; Johannes Haeberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leao; Riikka Keski Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; ...More
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 7
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TITLE: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Full Text
AUTHORS: Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destree; David Fitzpatrick; ...More
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
AUTHORS: Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destree; David Fitzpatrick; ...More
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
