E. Graf

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.

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

M. Nöthen, A. Munnich, T. Strom, 2011, American journal of human genetics.

An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics

Fabian J Theis, M. Mann, L. Simon, 2018, Nature Communications.

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

T. Wieland, J. Hardy, T. Meitinger, 2012, American journal of human genetics.

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Thomas Meitinger, Gabi Kastenmüller, Jerzy Adamski, 2017, Nature Communications.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Robert W. Taylor, Daniel M Bader, J. Gagneur, 2017, Nature Communications.

VALIDATION OF AN IMU-SYSTEM (GAIT-UP) TO IDENTIFY GAIT PARAMETERS IN NORMAL AND INDUCED LIMPING WALKING CONDITIONS

Hermann Schwameder, Gerda Strutzenberger, H. Schwameder, 2016 .

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.

T. Meitinger, T. Strom, H. Prokisch, 2019, JIMD reports.

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.

T. Wieland, T. Meitinger, T. Strom, 2012, American journal of human genetics.

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

T. Wieland, T. Strom, H. Prokisch, 2017, European Journal of Human Genetics.

Adaptive mitochondrial regulation of the proteasome

H. Prokisch, H. Zischka, T. Schwarzmayr, 2020, bioRxiv.

Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes

T. Meitinger, T. Strom, E. Pataraia, 2020, Journal of Medical Genetics.

Prediction of Adipose Browning Capacity by Systematic Integration of Transcriptional Profiles.

T. Strom, A. Hauser, M. Tschöp, 2018, Cell reports.

Mutations in the deubiquitinase gene USP8 cause Cushing's disease

T. Wieland, T. Meitinger, T. Strom, 2014, Nature Genetics.

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

T. Hornemann, T. Wieland, T. Strom, 2013, European journal of medical genetics.

Molecular Integration of Incretin and Glucocorticoid Action Reverses Immunometabolic Dysfunction and Obesity.

T. Strom, R. Seeley, D. Cota, 2017, Cell metabolism.

Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing

T. Meitinger, R. Oberhoffer, E. Rieger-Fackeldey, 2019, Clinical genetics.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

T. Meitinger, T. Strom, H. Prokisch, 2018, American journal of human genetics.

Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants

Thomas Meitinger, Peter J. Schwartz, Walter J. Chazin, 2013, Circulation.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Medical Genetics.

Intermuscular adipose tissue (IMAT) directly modulates 1 skeletal muscle insulin sensitivity in humans 2

Tzulip Phang, T. Schwarzmayr, B. Bergman, 2018 .

Fast versus slow disease progression in amyotrophic lateral sclerosis–clinical and genetic factors at the edges of the survival spectrum

J. Winkelmann, A. Ludolph, E. Graf, 2022, Neurobiology of Aging.

Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3

T. Meitinger, T. Strom, T. Haack, 2017, Pediatric Research.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

T. Meitinger, T. Strom, H. Prokisch, 2016, American journal of human genetics.

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

T. Wieland, T. Strom, T. Pieber, 2012, American journal of human genetics.

Homozygous XYLT2 variants as a cause of spondyloocular syndrome

T. Meitinger, T. Strom, G. Eckstein, 2018, Clinical genetics.

Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants

J. Dengjel, Jochen H Weishaupt, E. Graf, 2022, Life Science Alliance.

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

Marc N. Offman, A. Peters, B. Rost, 2011, American journal of human genetics.

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype

E. Graf, M. Wagner, P. Scholze, 2022, Epilepsia.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

M. Baumgartner, T. Wieland, T. Meitinger, 2012, American journal of human genetics.

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

T. Meitinger, T. Strom, T. Haack, 2017, European Journal of Human Genetics.

KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism

T. Strom, F. Beuschlein, X. Jeunemaître, 2012, Hypertension.

Clonal Hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.

T. Meitinger, T. Strom, K. Götze, 2022, Human molecular genetics.

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

T. Meitinger, T. Strom, H. Prokisch, 2013, Journal of Inherited Metabolic Disease.

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

T. Wieland, T. Meitinger, T. Strom, 2013, BMC Genomics.

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

T. Wieland, T. Strom, H. Prokisch, 2016, European Journal of Human Genetics.

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

T. Meitinger, T. Strom, R. Jech, 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

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

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

T. Wieland, T. Meitinger, T. Strom, 2015, Nature Neuroscience.

An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics

Fabian J Theis, M. Mann, L. Simon, 2018, bioRxiv.

Identi ﬁ cation and characterization of distinct brown adipocyte subtypes in C57BL/6J mice

Fabian J Theis, David S. Fischer, A. Feuchtinger, 2022 .

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

T. Wieland, J. Erdmann, C. Hengstenberg, 2015, European Journal of Human Genetics.

Rare variants in LRRK1 and Parkinson's disease

C. Gieger, A. Peters, H. Mewes, 2013, neurogenetics.

Rare Variants in PLXNA4 and Parkinson’s Disease

C. Gieger, A. Peters, B. Mollenhauer, 2013, PloS one.

Rare variants in LRRK 1 and Parkinson ’ s disease

Juliane, Winkelmann, Manzoni, 2013 .

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.

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Inherited Metabolic Disease.

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.

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

M. Nöthen, J. Ott, N. Samani, 2013, Nature.

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia

Gerhard K. H. Przemeck, H. Fuchs, T. Wieland, 2016, Mammalian Genome.

A marker for Stevens-Johnson syndrome …: ethnicity matters

M. Schumacher, M. Mockenhaupt, J. Roujeau, 2006, The Pharmacogenomics Journal.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

P. Svenningsson, T. Meitinger, T. Strom, 2016, American journal of human genetics.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of 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.

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

C. Delacourt, T. Wieland, T. Meitinger, 2015, American journal of human genetics.

Maintenance of epithelial traits and resistance to mesenchymal reprogramming promote proliferation in metastatic breast cancer

A. Schneeweiss, S. Haas, A. Trumpp, 2020, bioRxiv.

Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice

H. Fuchs, T. Schwarzmayr, M. Tschöp, 2020, Nature Communications.

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.

T. Strom, T. Schwarzmayr, E. Watrin, 2020, Cell reports.

MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL

T. Strom, T. Schwarzmayr, E. Watrin, 2018, bioRxiv.

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Michael T. Zimmermann, Nikita R. Dsouza, A. Green, 2020, Genetics in Medicine.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

Long-Term Cold Adaptation Does Not Require FGF21 or UCP1.

T. Schwarzmayr, M. Tschöp, F. Neff, 2017, Cell metabolism.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

Fabian Grubert, T. Wieland, A. Urban, 2012, Human molecular genetics.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

R. Durbin, T. Meitinger, T. Strom, 2016, American Journal of Human Genetics.

Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing.

T. Meitinger, T. Strom, T. Volz, 2021, The CRISPR journal.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

T. Strom, H. Prokisch, P. Charbel Issa, 2021, The Journal of clinical investigation.

Mitochondrial Regulation of the 26S Proteasome.

H. Prokisch, H. Zischka, T. Schwarzmayr, 2020, Cell reports.

A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2

A. Rump, R. Abou Jamra, E. Graf, 2022, medRxiv.

Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

T. Meitinger, T. Strom, H. Prokisch, 2019, Journal of inherited metabolic disease.

Functional identity of hypothalamic melanocortin neurons depends on Tbx3

Ilona C. Grunwald Kadow, T. Strom, S. Woods, 2019, Nature Metabolism.

Functional identity of hypothalamic melanocortin neurons depends on Tbx3

Ilona C. Grunwald Kadow, M. Mann, T. Strom, 2019, Nature metabolism.

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

E. Bertini, T. Meitinger, T. Strom, 2015, American journal of human genetics.

TPP2 mutation associated with sterile brain inflammation mimicking MS

T. Wieland, A. Deutschländer, T. Strom, 2018, Neurology: Genetics.

TPP 2 mutation associated with sterile brain in fl ammation mimicking MS

T. Wieland, A. Deutschländer, T. Strom, 2022 .

Reduced expression of β-catenin inhibitor Chibby in colon carcinoma cell lines

A. Bosserhoff, K. Takemaru, E. Graf, 2006 .

Reduced expression of beta-catenin inhibitor Chibby in colon carcinoma cell lines.

A. Bosserhoff, K. Takemaru, E. Graf, 2006, World Journal of Gastroenterology.

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

T. Wieland, T. Meitinger, T. Strom, 2013, Nature Genetics.

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia

Gerhard K. H. Przemeck, H. Fuchs, T. Wieland, 2016, Mammalian Genome.

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

T. Strom, G. Eckstein, P. Lichtner, 2012, American journal of human genetics.

Author Correction: Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice

H. Fuchs, T. Schwarzmayr, M. Tschöp, 2021, Nature Communications.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

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

Identification and characterization of distinct murine brown adipocyte lineages

Fabian J Theis, David S. Fischer, A. Feuchtinger, 2020, bioRxiv.

Interplay of cell–cell contacts and RhoA/MRTF‐A signaling regulates cardiomyocyte identity

L. Iop, T. Meitinger, Austin G Smith, 2018, The EMBO journal.

Monogenic variants in dystonia: an exome-wide sequencing study

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

Driver mutations in USP8 wild-type Cushing’s disease

T. Strom, J. Honegger, G. Assié, 2019, Neuro-oncology.

A. Blaschek, E. Graf, R. Berutti, 2023, Parkinsonism & related disorders.

Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans.

Tzulip Phang, T. Schwarzmayr, B. Bergman, 2019, American journal of physiology. Endocrinology and metabolism.

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

A. Hoischen, S. Lalani, D. Wieczorek, 2023, Genetics in Medicine.

Prenatal Diagnosis of Fetal Lymphocytes in the Maternal Blood

E. Graf, R. Martin-du-Pan, A. Schindler, 1972, Obstetrics and gynecology.

Absence of the Autophagy Adaptor SQSTM 1 / p 62 Causes Childhood-Onset Neurodegeneration with Ataxia , Dystonia , and Gaze Palsy Haack

P. Svenningsson, T. Meitinger, T. Strom, 2022 .

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.

Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch

R. Jech, J. Winkelmann, A. Blaschek, 2023, Movement Disorders Clinical Practice.