| Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes S Endele, G Rosenberger, K Geider, B Popp, C Tamer, I Stefanova, ... Nature genetics 42 (11), 1021-1026, 2010 | 586 | 2010 |
| Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability J Hoyer, AB Ekici, S Endele, B Popp, C Zweier, A Wiesener, E Wohlleber, ... The American Journal of Human Genetics 90 (3), 565-572, 2012 | 300 | 2012 |
| Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature NN Hauer, B Popp, E Schoeller, S Schuhmann, KE Heath, A Hisado-Oliva, ... Genetics in Medicine 20 (6), 630-638, 2018 | 149 | 2018 |
| De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females B Popp, SI Støve, S Endele, LM Myklebust, J Hoyer, H Sticht, ... European Journal of Human Genetics 23 (5), 602-609, 2015 | 103 | 2015 |
| Expanding the phenotype associated with NAA10‐related N‐terminal acetylation deficiency C Saunier, SI Støve, B Popp, B Gérard, M Blenski, N Ahmew, C De Bie, ... Human Mutation 37 (8), 755-764, 2016 | 98 | 2016 |
| Mutations in MBOAT7, encoding lysophosphatidylinositol acyltransferase I, lead to intellectual disability accompanied by epilepsy and autistic features A Johansen, RO Rosti, D Musaev, E Sticca, R Harripaul, M Zaki, ... The American Journal of Human Genetics 99 (4), 912-916, 2016 | 94 | 2016 |
| Haploinsufficiency of the chromatin remodeler BPTF causes syndromic developmental and speech delay, postnatal microcephaly, and dysmorphic features P Stankiewicz, TN Khan, P Szafranski, L Slattery, H Streff, F Vetrini, ... The American Journal of Human Genetics 101 (4), 503-515, 2017 | 92 | 2017 |
| Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function GI Rice, S Park, F Gavazzi, LA Adang, LA Ayuk, L Van Eyck, L Seabra, ... Human mutation 41 (4), 837-849, 2020 | 89 | 2020 |
| Exome Pool-Seq in neurodevelopmental disorders B Popp, AB Ekici, CT Thiel, J Hoyer, A Wiesener, C Kraus, A Reis, ... European Journal of Human Genetics 25 (12), 1364-1376, 2017 | 84 | 2017 |
| Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome G Vasileiou, S Vergarajauregui, S Endele, B Popp, C Büttner, AB Ekici, ... The American Journal of Human Genetics 102 (3), 468-479, 2018 | 80 | 2018 |
| Need for high-resolution genetic analysis in iPSC: results and lessons from the ForIPS consortium B Popp, M Krumbiegel, J Grosch, A Sommer, S Uebe, Z Kohl, S Plötz, ... Scientific reports 8 (1), 17201, 2018 | 77 | 2018 |
| CUSHAW3: sensitive and accurate base-space and color-space short-read alignment with hybrid seeding Y Liu, B Popp, B Schmidt PloS one 9 (1), e86869, 2014 | 77 | 2014 |
| The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy M Hebebrand, U Hüffmeier, R Trollmann, U Hehr, S Uebe, AB Ekici, ... Orphanet Journal of Rare Diseases 14, 1-13, 2019 | 65 | 2019 |
| Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene I Freunscht, B Popp, R Blank, S Endele, U Moog, H Petri, EC Prott, A Reis, ... Behavioral and Brain Functions 9, 1-11, 2013 | 61 | 2013 |
| TRIM28 haploinsufficiency predisposes to Wilms tumor IJ Diets, J Hoyer, AB Ekici, B Popp, N Hoogerbrugge, SV van Reijmersdal, ... International journal of cancer 145 (4), 941-951, 2019 | 59 | 2019 |
| Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations A Wenzel, J Altmueller, AB Ekici, B Popp, K Stueber, H Thiele, A Pannes, ... Scientific reports 8 (1), 4170, 2018 | 54 | 2018 |
| The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals P Zacher, T Mayer, F Brandhoff, T Bartolomaeus, D Le Duc, M Finzel, ... Genetics in Medicine 23 (8), 1492-1497, 2021 | 41 | 2021 |
| DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects K Kessler, I Wunderlich, S Uebe, NS Falk, A Gießl, J Helmut Brandstätter, ... Scientific reports 5 (1), 11649, 2015 | 40 | 2015 |
| New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin … A Begemann, H Sticht, A Begtrup, A Vitobello, L Faivre, S Banka, ... Genetics in Medicine 23 (3), 543-554, 2021 | 39 | 2021 |
| Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes R Schönauer, S Baatz, M Nemitz-Kliemchen, V Frank, F Petzold, ... Genetics in Medicine 22 (8), 1374-1383, 2020 | 38 | 2020 |
Yongchao LiuStaff Engineer, Ant Group (China)Verified email at antgroup.com
