K. Cremer

发表

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

D. Horn, T. Wieland, E. Schröck, 2012, The Lancet.

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

Dagmar Wieczorek, Stephan J Sigrist, Kirsten Cremer, 2012, American journal of human genetics.

Update on Kleefstra Syndrome

A. V. Vulto-van Silfhout, W. Reardon, N. Philip, 2012, Molecular Syndromology.

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

M. Nöthen, D. Horn, S. Mundlos, 2021, medRxiv.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

R. Pfundt, T. Strom, D. Wieczorek, 2015, American journal of human genetics.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature Genetics.

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

T. Wieland, T. Strom, D. Wieczorek, 2015, European Journal of Human Genetics.

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking

R. Wevers, S. Wortmann, U. Kornak, 2010, American journal of medical genetics. Part A.

E. Ringelstein, T. Strom, H. Lerche, 2019, Annals of clinical and translational neurology.

Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin

T. Klockgether, M. Sturm, M. Synofzik, 2022, Movement disorders : official journal of the Movement Disorder Society.

Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA)

E. Hattingen, K. Cremer, G. Kukuk, 2017, Clinical Neuroradiology.

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation

J. Epplen, K. Cremer, G. Dekomien, 2015, Journal of Neurological Sciences.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

A. Verloes, S. Banka, T. Reimand, 2020, Genetics in Medicine.

Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome

Alexej Knaus, Tzung-Chien Hsieh, P. Krawitz, 2022, Human mutation.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

M. Nöthen, D. Horn, S. Mundlos, 2022, Nature Genetics.

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

R. Pfundt, T. Strom, H. Brunner, 2016, Nature Genetics.

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

R. Pfundt, B. D. de Vries, E. Eichler, 2016, Human Genetics.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

T. Wieland, T. Strom, J. Veltman, 2014, Human Genetics.

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

T. Strom, D. Wieczorek, M. Sturm, 2018, Human Genetics.

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

T. Strom, D. Wieczorek, D. Lessel, 2020, American journal of medical genetics. Part A.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

T. Wieland, T. Strom, A. Schlessinger, 2014, European Journal of Human Genetics.

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID

T. Wieland, T. Strom, D. Wieczorek, 2017, European Journal of Human Genetics.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

L. Vissers, T. Wieland, T. Strom, 2014, Human Genetics.

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations

T. Wieland, T. Strom, D. Wieczorek, 2017, American journal of medical genetics. Part A.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Genetics.

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth

T. Wieland, T. Strom, D. Wieczorek, 2016, European Journal of Human Genetics.

Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.

K. Cremer, A. Zink, H. Engels, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected.

D. Wieczorek, K. Cremer, H. Lüdecke, 2008, European journal of medical genetics.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

S. Heilmann-Heimbach, A. Dufke, M. Bonin, 2015, Molecular Cytogenetics.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

Monogenic variants in dystonia: an exome-wide sequencing study

W. Chung, J. Volkmann, T. Strom, 2020, The Lancet Neurology.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

S. Heilmann-Heimbach, A. Dufke, M. Bonin, 2015, Molecular Cytogenetics.

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.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

Alyssa A. Tran, Undiagnosed Diseases Network, J. Rosenfeld, 2023, medRxiv.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Edward L. Huttlin, J. Mullikin, T. Meitinger, 2017, American journal of human genetics.

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

T. Strom, D. Wieczorek, M. Sturm, 2018, Human Genetics.

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

A. Jauch, P. Bauer, A. Ekici, 2011, European Journal of Human Genetics.

Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children

F. Laenger, B. Gérard, K. Cremer, 2023, Pediatric pulmonology.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2021, Nature Genetics.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

R. Pfundt, T. Strom, D. Wieczorek, 2015, American Journal of Human Genetics.

I. Scheffer, P. Striano, F. Alkuraya, 2023, European Journal of Human Genetics.