I. Hüning

发表

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

K. Lohmann, D. Trujillano, G. Oprea, 2017, Human molecular genetics.

Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant

D. Wieczorek, G. Gillessen‐kaesbach, H. Lüdecke, 2021, European journal of human genetics : EJHG.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

A. Hoischen, J. Veltman, K. Lohmann, 2014, Epilepsia.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

K. Lohmann, A. Rolfs, C. Klein, 2018, Journal of Human Genetics.

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features

K. Lohmann, G. Gillessen‐kaesbach, J. Trinh, 2017, Journal of Human Genetics.

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

K. Kandaswamy, P. Bauer, F. Alkuraya, 2021, Genetics in Medicine.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

J. Rosenfeld, Long Guo, J. Clayton-Smith, 2023, American journal of human genetics.

TBC 1 D 24 genotype – phenotype correlation Epilepsies and other neurologic features

J. Rosenfeld, A. Pagnamenta, P. Verstreken, 2022 .

TBC1D24 genotype–phenotype correlation

J. Rosenfeld, I. Scheffer, J. Gécz, 2016, Neurology.

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly

M. Spielmann, A. Zibat, J. Altmüller, 2022, Human mutation.

Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures

T. Strom, T. Schwarzmayr, G. Gillessen‐kaesbach, 2014, American journal of medical genetics. Part A.

[Recommendations for the healthcare of patients with FOP].

D. Banholzer, O. Semler, H. Siggelkow, 2023, Orthopadie.

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

J. Goodship, S. Twigg, S. McGowan, 2012, American journal of human genetics.

Molecular Genetics of Fibrodysplasia Ossificans Progressiva

G. Gillessen‐kaesbach, Irina Hüning, G. Gillessen‐Kaesbach, 2016 .

Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

G. Gillessen‐kaesbach, Irina Hüning, G. Gillessen‐Kaesbach, 2014, Molecular Syndromology.

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome.

K. Kutsche, Lovisa Lovmar, M. Stefanova, 2013, European journal of medical genetics.