Nuria C. Bramswig

发表

Epigenetics and diabetes treatment: an unrealized promise?

Klaus H. Kaestner, K. Kaestner, N. Bramswig, 2012, Trends in Endocrinology & Metabolism.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

MicroRNAs control intestinal epithelial differentiation, architecture, and barrier function.

Jonathan Schug, J. Schug, K. Kaestner, 2010, Gastroenterology.

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.

H. Cavé, M. Ahmadian, M. Tartaglia, 2019, American journal of human genetics.

Epigenomic plasticity enables human pancreatic α to β cell reprogramming.

J. Schug, K. Kaestner, L. Everett, 2013, The Journal of clinical investigation.

Epigenetic regulation of the DLK1-MEG3 microRNA cluster in human type 2 diabetic islets.

Jonathan Schug, Kyoung-Jae Won, Kumar Vivek, 2014, Cell metabolism.

Organogenesis and functional genomics of the endocrine pancreas

K. Kaestner, N. Bramswig, Nuria C. Bramswig, 2012, Cellular and Molecular Life Sciences.

Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution.

D. Wieczorek, M. Kuhlen, M. Frühwald, 2023, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Transcriptional and epigenetic regulation in human islets

K. Kaestner, N. Bramswig, Nuria C. Bramswig, 2014, Diabetologia.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

C. Depienne, A. Afenjar, D. Wieczorek, 2023, Frontiers in Cell and Developmental Biology.

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

S. Julia, D. Wieczorek, H. Van Esch, 2022, International journal of molecular sciences.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

T. Strom, M. Lek, B. Lenhard, 2018, Brain : a journal of neurology.

Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome

M. Speicher, D. Wieczorek, L. Klein-Hitpass, 2019, Cytogenetic and Genome Research.

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

T. Strom, J. Clayton-Smith, A. Ekici, 2018, American journal of human genetics.

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

T. Strom, D. Wieczorek, E. Watrin, 2017, Human Genetics.

ANKRD11 variants: KBG syndrome and beyond

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

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

T. Wieland, T. Strom, D. Wieczorek, 2015, Human Genetics.

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

R. Pfundt, T. Strom, D. Wieczorek, 2015, Human Genetics.

Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue

D. Wieczorek, K. Rostásy, B. Horsthemke, 2018, Cytogenetic and Genome Research.

Epilepsy in KCNH1-related syndromes.

I. Scheffer, V. Shashi, K. Schoch, 2016, Epileptic disorders : international epilepsy journal with videotape.

X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy

D. Wieczorek, D. Schindler, C. Roll, 2016, Clinical dysmorphology.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, S. Mundlos, B. Tüysüz, 2015, Human mutation.

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

R. Pfundt, T. Strom, D. Wieczorek, 2015, Human Genetics.

Epigenetic regulation of the MEG3-DLK1 microRNA cluster in human Type 2 diabetic islets

Anastassios, J. Schug, K. Kaestner, 2014 .

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

T. Wieland, T. Strom, D. Lowenstein, 2017, Human Genetics.

Adult syndromology: challenges, opportunities and perspectives

Nuria C. Bramswig, M. Ballesta-Martínez, Ariane Schmetz, 2024, Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V.

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Tzung-Chien Hsieh, K. Chrzanowska, C. Philippe, 2023, Human genetics.