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Molecular Syndromology|October 23, 2014
Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlationIrina Hüning, Gabriele Gillessen-Kaesbach
European Journal of Human Genetics : EJHG|March 31, 2021
Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variantBritta Hanker, Gabriele Gillessen-Kaesbach, Irina Hüning, et al.
Clinical Genetics|December 9, 2020
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5Thomas Eggermann, Florian Kraft, Katja Kloth, et al.
European Journal of Medical Genetics|January 29, 2013
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndromeIrina Hüning, Kerstin Kutsche, Saideh Rajaei, et al.
American Journal of Medical Genetics. Part A|May 7, 2014
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizuresKonrad Platzer, Irina Hüning, Carolin Obieglo, et al.
Journal of Human Genetics|June 15, 2018
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delayJoanne Trinh, Irina Hüning, Zafer Yüksel, et al.
Epilepsia|March 4, 2014
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalitiesAnna-Lena Baasch, Irina Hüning, Christian Gilissen, et al.
Clinical and Translational Allergy|February 28, 2019
Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedemaAndreas Recke, Elisabeth G Massalme, Uta Jappe, et al.
European Journal of Medical Genetics|April 29, 2023
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencingNadja Baalmann, Malte Spielmann, Gabriele Gillessen-Kaesbach, et al.
Human Molecular Genetics|January 15, 2017
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humansKatja Lohmann, Ikuo Masuho, Dipak N Patil, et al.
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