Bernt Popp
Bernt Popp
Resident at Institute of Human Genetics, University of Leipzig Hospitals and Clinics
Verified email at medizin.uni-leipzig.de - Homepage
Title
Cited by
Cited by
Year
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
4212010
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
2102012
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
672015
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
642014
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
552018
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
532016
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
512016
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), 1-11, 2013
422013
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
412017
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
362017
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
322018
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects
K Kessler, I Wunderlich, S Uebe, NS Falk, A Gießl, JH Brandstätter, ...
Scientific reports 5 (1), 1-12, 2015
292015
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), 1-14, 2018
262018
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
222019
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), 1-12, 2018
172018
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
162020
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), 1-13, 2019
142019
Biallelic expression of mucin-1 in autosomal dominant tubulointerstitial kidney disease: implications for nongenetic disease recognition
KX Knaup, T Hackenbeck, B Popp, J Stoeckert, A Wenzel, ...
Journal of the American Society of Nephrology 29 (9), 2298-2309, 2018
132018
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1
B Popp, R Trollmann, C Büttner, A Caliebe, CT Thiel, U Hüffmeier, A Reis, ...
European journal of medical genetics 59 (10), 549-553, 2016
132016
SWI/SNF protein expression status in fumarate hydratase–deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients
A Agaimy, MB Amin, AJ Gill, B Popp, A Reis, DM Berney, C Magi-Galluzzi, ...
Human pathology 77, 139-146, 2018
102018
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