Alexander Hoischen

Dikutip oleh

	Semua	Sejak 2020
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180 artikel

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Christian GilissenRadboud university medical centerEmail yang diverifikasi di radboudumc.nl
Joris VeltmanInstitute of Genetics & Cancer, University of Edinburgh, United KingdomEmail yang diverifikasi di ed.ac.uk
Lisenka VissersProfessor of Translational Genomics 🧬Email yang diverifikasi di radboudumc.nl
Mihai NeteaEmail yang diverifikasi di lembatherapeutics.com
Peer ArtsCentre for Cancer biology, an SA pathology and UniSA allianceEmail yang diverifikasi di unisa.edu.au
Leo JoostenRadboud UMC Nijmegen, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-NapocaEmail yang diverifikasi di radboudumc.nl
Hans SchefferAssoc. Prof. Clinical Molecular Genetics, RadboudumcEmail yang diverifikasi di radboudumc.nl
Peter LichterProfessor der BiologieEmail yang diverifikasi di dkfz.de
Rocío Acuña HidalgoNostos GenomicsEmail yang diverifikasi di nostos-genomics.com
Joep de LigtLead Data @ Hartwig Medical Foundation (NL)Email yang diverifikasi di hartwigmedicalfoundation.nl
Richarda de VoerRadboudumcEmail yang diverifikasi di radboudumc.nl
Rob CollinAssociate Professor, RadboudumcEmail yang diverifikasi di radboudumc.nl
Sanne SmeekensClinical Laboratory GeneticistEmail yang diverifikasi di radboudumc.nl
Evan EichlerProfessor of Genome Sciences, University of WashingtonEmail yang diverifikasi di gs.washington.edu
Hulya KayseriliProfessor of medical genetics, Koc university School of MedicineEmail yang diverifikasi di kuh.ku.edu.tr
Nicoline HoogerbruggeHoogleraar erfelijke kanker, medisch specialistEmail yang diverifikasi di gen.umcn.nl
Gunnar HougeProfessor, Dep med genetics, Haukeland University HospitalEmail yang diverifikasi di helse-bergen.no
Vidar M SteenUniversity of BergenEmail yang diverifikasi di helse-bergen.no
Desa LilicNewcastle University UKEmail yang diverifikasi di ncl.ac.uk
Richard RodenburgClinical Laboratory GeneticistEmail yang diverifikasi di radboudumc.nl

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Alexander Hoischen

Radboud University Medical Center, Nijmegen, The Netherlands

Email yang diverifikasi di radboudumc.nl - Beranda

Genomic technologies & immuno-genomics: genomes long-reads somatic mutations inborn errors of immunity clonal hematopoiesis


Judul Urutkan menurut kutipan Urutkan menurut tahun Urutkan menurut judul	Dikutip oleh Dikutip oleh	Tahun
Diagnostic exome sequencing in persons with severe intellectual disability J De Ligt, MH Willemsen, BWM Van Bon, T Kleefstra, HG Yntema, T Kroes, ... New England Journal of Medicine 367 (20), 1921-1929, 2012	1861	2012
Genome sequencing identifies major causes of severe intellectual disability C Gilissen, JY Hehir-Kwa, DT Thung, M Van De Vorst, BWM Van Bon, ... Nature 511 (7509), 344-347, 2014	1410	2014
A de novo paradigm for mental retardation LELM Vissers, J de Ligt, C Gilissen, I Janssen, M Steehouwer, P de Vries, ... Nature genetics 42 (12), 1109-1112, 2010	989	2010
Presence of genetic variants among young men with severe COVID-19 CI Van Der Made, A Simons, J Schuurs-Hoeijmakers, G van den Heuvel, ... Jama 324 (7), 663-673, 2020	798	2020
STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis FL van de Veerdonk, TS Plantinga, A Hoischen, SP Smeekens, ... New England Journal of Medicine 365 (1), 54-61, 2011	748	2011
Refining analyses of copy number variation identifies specific genes associated with developmental delay BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ... Nature genetics 46 (10), 1063-1071, 2014	698	2014
Disease gene identification strategies for exome sequencing C Gilissen, A Hoischen, HG Brunner, JA Veltman European Journal of Human Genetics 20 (5), 490-497, 2012	637	2012
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome A Hoischen, BWM van Bon, C Gilissen, P Arts, B van Lier, M Steehouwer, ... Nature genetics 42 (6), 483-485, 2010	619	2010
New insights into the generation and role of de novo mutations in health and disease R Acuna-Hidalgo, JA Veltman, A Hoischen Genome biology 17, 1-19, 2016	522	2016
Long-read sequencing emerging in medical genetics T Mantere, S Kersten, A Hoischen Frontiers in genetics 10, 432668, 2019	450	2019
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta J Becker, O Semler, C Gilissen, Y Li, HJ Bolz, C Giunta, C Bergmann, ... The American Journal of Human Genetics 88 (3), 362-371, 2011	430	2011
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer RDA Weren, MJL Ligtenberg, CM Kets, RM De Voer, ETP Verwiel, ... Nature genetics 47 (6), 668-671, 2015	415	2015
Unlocking Mendelian disease using exome sequencing C Gilissen, A Hoischen, HG Brunner, JA Veltman Genome biology 12 (9), 228, 2011	369	2011
Parent-of-origin-specific signatures of de novo mutations JM Goldmann, WSW Wong, M Pinelli, T Farrah, D Bodian, AB Stittrich, ... Nature genetics 48 (8), 935-939, 2016	352	2016
Human TLR10 is an anti-inflammatory pattern-recognition receptor M Oosting, SC Cheng, JM Bolscher, R Vestering-Stenger, TS Plantinga, ... Proceedings of the National Academy of Sciences 111 (42), E4478-E4484, 2014	350	2014
Next‐generation genetic testing for retinitis pigmentosa K Neveling, RWJ Collin, C Gilissen, RAC Van Huet, L Visser, MP Kwint, ... Human mutation 33 (6), 963-972, 2012	349	2012
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome C Gilissen, HH Arts, A Hoischen, L Spruijt, DA Mans, P Arts, B Van Lier, ... The American Journal of Human Genetics 87 (3), 418-423, 2010	348	2010
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome A Hoischen, BWM Van Bon, B Rodríguez-Santiago, C Gilissen, ... Nature genetics 43 (8), 729-731, 2011	330	2011
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ... Nature genetics 44 (4), 440-444, 2012	320	2012
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015	307	2015

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