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Current Opinion in Nephrology and Hypertension|July 29, 2008
PHEX, FGF23, DMP1 and beyondTim M Strom, Harald Jüppner
European Journal of Human Genetics : EJHG|February 20, 2019
Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishmentJasmin Beygo, Joachim Bürger, Tim M Strom, et al.
Human Molecular Genetics|December 14, 2004
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemiaAnna Benet-Pagès, Peter Orlik, Tim M Strom, et al.
American Journal of Human Genetics|February 9, 2010
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic ricketsBettina Lorenz-Depiereux, Dirk Schnabel, Dov Tiosano, et al.
Ebiomedicine|February 18, 2022
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databasesHana Kolarova, Jing Tan, Tim M Strom, et al.
American Journal of Medical Genetics. Part A|December 18, 2018
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencingMatthias Rath, Stefanie Spiegler, Tim M Strom, et al.
Intractable & Rare Diseases Research|February 22, 2021
A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North IndiaDevi Dayal, Shruti Gupta, Rakesh Kumar, et al.
BMC Genomics|October 22, 2015
Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chickenGuiyan Ni, Tim M Strom, Hubert Pausch, et al.
European Journal of Medical Genetics|July 9, 2017
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic featuresKatja Kloth, Jonas Denecke, Maja Hempel, et al.
Genome Biology|August 8, 2009
Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discoverySebastian H Eck, Anna Benet-Pagès, Krzysztof Flisikowski, et al.
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