C. Thiel

发表

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome.

H. Dörr, C. Thiel, B. Knebel, 2008, Molecular genetics and metabolism.

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.

ADP-dependent glucokinase regulates energy metabolism via ER-localized glucose sensing

M. Carl, A. Tandon, M. Völkers, 2019, Scientific Reports.

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2012, Human molecular genetics.

Identification of Alu elements mediating a partial PMP22 deletion

C. Sommer, K. Huehne, B. Rautenstrauss, 2006, Neurogenetics.

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

A. Ekici, E. Boltshauser, C. Thiel, 2010, Molecular Syndromology.

Key features and clinical variability of COG6-CDG.

Gert Matthijs, Uwe Kornak, Hubertus C M T Prinsen, 2015, Molecular genetics and metabolism.

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

A. Ekici, E. Klopocki, C. Thiel, 2018, European journal of medical genetics.

Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.

N. Blau, C. Thiel, J. Okun, 2016, Molecular genetics and metabolism.

Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder.

F. Kerling, C. Thiel, A. Reis, 2020, European journal of medical genetics.

Therapies and therapeutic approaches in Congenital Disorders of Glycosylation

C. Thiel, C. Körner, 2012, Glycoconjugate Journal.

Mouse models for congenital disorders of glycosylation

C. Thiel, C. Körner, 2011, Journal of Inherited Metabolic Disease.

Congenital Disorder of Glycosylation (CDG)-Ih

C. Thiel, 2003 .

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

H. Freeze, F. Tort, Christina Lam, 2020, Journal of inherited metabolic disease.

ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG

M. He, C. Thiel, T. Gadomski, 2017, Genetics in Medicine.

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

J. Graham, B. Bejjani, M. Tartaglia, 2009, American journal of medical genetics. Part A.

Manifestation of epilepsy in a patient with EED‐related overgrowth (Cohen–Gibson syndrome)

A. Ekici, A. Winterpacht, F. Kerling, 2021, American journal of medical genetics. Part A.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

G. Mortier, B. Menten, E. Klopocki, 2012, Genetics in Medicine.

Prenatal diagnosis of HNF1B‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?

A. Ekici, C. Thiel, A. Reis, 2019, Prenatal diagnosis.

Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?

A. Ekici, C. Thiel, A. Reis, 2019, bioRxiv.

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

J. Bizot, C. Thiel, I. Guerrera, 2018, eLife.

Gene identiﬁcation in the congenital disorders of glycosylation type I by whole-exome sequencing

A. Hoischen, J. Veltman, R. Rodenburg, 2012 .

The lysosomal transporter MFSD1 is essential for liver homeostasis and critically depends on its accessory subunit GLMP

R. Lüllmann-Rauch, P. Saftig, M. Sylvester, 2019, eLife.

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

C. Thiel, C. Körner, E. Wilichowski, 2010, Human molecular genetics.

Paediatric Cancer Predisposition Documentation Tool – Standardized Reporting Form for Children and Adolescents With Suspected Cancer Predisposition Syndrome

A. Borkhardt, M. Schrappe, M. Kuhlen, 2021 .

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Y. Wada, E. Schulze-Bahr, R. Baxter, 2017, Molecular genetics and metabolism reports.

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

H. Freeze, G. Matthijs, A. Ribes, 2021, American Journal of Human Genetics.

Congenital Disorders of Glycosylation

C. Thiel, C. Körner, Jürgen Lübbehusen, 2008 .

Congenital disorders of glycosylation with defective fucosylation

S. Wortmann, C. Thiel, D. Lefeber, 2021, Journal of inherited metabolic disease.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase‐I deficiency

J. Vissing, C. Thiel, N. Voermans, 2018, Translational research : the journal of laboratory and clinical medicine.

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

A. Ekici, C. Thiel, A. Reis, 2018, bioRxiv.

Acanthosis nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance Syndrome

N. Rezaei, C. Thiel, F. Sayarifard, 2013, Iranian journal of pediatrics.

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

R. Roepman, A. Ekici, E. Seemanová, 2015, Scientific Reports.

Exome Pool-Seq in neurodevelopmental disorders

A. Ekici, C. Thiel, A. Reis, 2017, European Journal of Human Genetics.

A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in Mice

M. Becker, M. Freichel, M. Hecker, 2020, International journal of molecular sciences.

Protective Actions of Anserine Under Diabetic Conditions

H. Baelde, V. Calabrese, C. Thiel, 2018, International journal of molecular sciences.

The smallest teeth in the world are caused by mutations in the PCNT gene

P. Tanpaiboon, C. Thiel, A. Rauch, 2011, American journal of medical genetics. Part A.

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

D. Horn, S. Mundlos, B. Tüysüz, 2019, Journal of Human Genetics.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2017, American Journal of Human Genetics.

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

H. Freeze, M. Patterson, Christina Lam, 2019, Journal of inherited metabolic disease.

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

A. Ekici, M. Meisterernst, C. Thiel, 2018, neurogenetics.

Systematic assessment of atypical deletions reveals genotype–phenotype correlation in 22q11.2

M. Weyand, C. Thiel, A. Rauch, 2005, Journal of Medical Genetics.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Colin A. Johnson, Teunis J. P. van Dam, J. Shendure, 2015, Nature Cell Biology.

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

M. Reuter, C. Thiel, A. Reis, 2013, European journal of medical genetics.

Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1

L. P. Van den Heuvel, M. Heiner-Fokkema, C. Thiel, 2022, Journal of inherited metabolic disease.

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

A. Ekici, D. Wieczorek, H. Dörr, 2017, Scientific Reports.

Plectin‐related scapuloperoneal myopathy with treatment‐responsive myasthenic syndrome

C. Thiel, H. Herrmann, R. Schröder, 2020, Neuropathology and applied neurobiology.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Robert W. Taylor, T. Wieland, I. Harting, 2016, Journal of Inherited Metabolic Disease.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Robert W. Taylor, I. Harting, T. Meitinger, 2018, Genetics in Medicine.

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

D. Cassiman, C. Thiel, P. Vermeersch, 2019, American journal of human genetics.

A rapid and simple procedure for the isolation and cultivation of fibroblast-like cells from medaka and zebrafish embryos and fin clip biopsies

J. Wittbrodt, T. Thumberger, C. Thiel, 2021, Laboratory animals.

Expanding the clinical phenotype of COG6 deficiency

C. Thiel, P. V. van Hasselt, N. Verhoeven-Duif, 2014, Journal of Medical Genetics.

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

R. Eils, M. Carl, S. Wiemann, 2018, Molecular genetics and metabolism.

Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia

F. Rosanowski, C. Thiel, A. Reis, 2005, Clinical dysmorphology.

Novel mutations in the Charcot‐Marie‐Tooth disease genes PMP22, MPZ, and GJB1

C. Ploner, K. Huehne, B. Rautenstrauss, 2003, Human mutation.

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

G. Matthijs, R. Wevers, C. Thiel, 2016, Journal of Inherited Metabolic Disease.

Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus

A. Ziegler, J. Denecke, I. Sinning, 2019, Human mutation.

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.

C. Thiel, A. Rauch, 2011, Best practice & research. Clinical endocrinology & metabolism.

Clinical and genetic distinction of Schimke immuno‐osseous dysplasia and cartilage‐hair hypoplasia

I. Kaitila, C. Boerkoel, A. Baradaran‐Heravi, 2008, American journal of medical genetics. Part A.

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.

D. Horn, A. Ekici, F. Rüschendorf, 2005, American journal of human genetics.

A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation

J. Wittbrodt, T. Thumberger, E. Rapp, 2021, Development.

The medaka alg2 mutant is a model for hypo-N-glycosylation-associated retinitis pigmentosa

J. Wittbrodt, T. Thumberger, E. Rapp, 2020, bioRxiv.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis‐Noonan syndrome

R. Fahsold, C. Thiel, H. Sticht, 2009, American journal of medical genetics. Part A.

A vital sugar code for ricin toxicity

J. Zuber, K. Mechtler, J. Penninger, 2017, Cell Research.

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)

Erdmann Rapp, Udo Reichl, Samanta Cajic, 2016, Molecular & Cellular Proteomics.

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.

F. Hanefeld, K. von Figura, C. Thiel, 2002, The Biochemical journal.

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

E. Berger, K. von Figura, C. Thiel, 2002, The Journal of clinical investigation.

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report

U. Schlötzer-Schrehardt, F. Roemer, C. Thiel, 2019, BMC Musculoskeletal Disorders.

The clinical significance of small copy number variants in neurodevelopmental disorders

A. Ekici, D. Fitzpatrick, C. Thiel, 2014, Journal of Medical Genetics.

PEDIA: prioritization of exome data by image analysis

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

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings

A. Ekici, C. Thiel, A. Reis, 2018, American journal of medical genetics. Part A.

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.

G. Smyth, A. Ekici, M. Ahmadian, 2011, The Journal of clinical investigation.

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria

Georgia Vasileiou, Juliane Hoyer, Marius Wunderle, 2018, BMC Cancer.

Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa

A. Hoischen, T. Meitinger, T. Strom, 2016 .

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations

A. Hartmann, W. Hohenberger, A. Agaimy, 2015, International journal of cancer.

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

G. Rappold, T. Ogata, C. Thiel, 2018, European Journal of Human Genetics.

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Roland Eils, Stefan Wiemann, Ute Moog, 2017, Molecular genetics and metabolism.

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

S. Wiemann, R. Wade, M. Schlesner, 2015, Journal of Medical Genetics.

MAP4‐Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation

A. Ekici, S. Neuhauss, Yuya Sugano, 2015, Human mutation.

Rare Copy Number Variants Are a Common Cause of Short Stature

Dagmar Wieczorek, Juliane Hoyer, Arif B. Ekici, 2013, PLoS genetics.

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

A. Ekici, F. Rüschendorf, C. Becker, 2007, Journal of Medical Genetics.

Molecular karyotyping using an SNP array for genomewide genotyping

F. Rüschendorf, C. Becker, P. Nürnberg, 2004, Journal of Medical Genetics.

Exome Pool-Seq in neurodevelopmental disorders

A. Ekici, C. Thiel, A. Reis, 2017, European Journal of Human Genetics.

Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases

W. Sondermann, K. Schäkel, A. Ekici, 2020, American journal of human genetics.

Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling

H. Steinbeisser, C. Thiel, N. Himmelreich, 2015, Journal of Inherited Metabolic Disease.

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

A. Ekici, D. Wieczorek, R. Abou Jamra, 2017, Genetics in Medicine.

TRIM28 haploinsufficiency predisposes to Wilms tumor

M. Gessler, A. Ekici, R. Kuiper, 2019, International journal of cancer.

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Juliane Hoyer, Peter Nürnberg, André Reis, 2006, American journal of medical genetics. Part A.

Rare loss-of-function mutation in SERPINA3 in generalized pustular psoriasis.

A. Ekici, S. Kõks, G. Schett, 2020, The Journal of investigative dermatology.

Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis

R. Roepman, M. Ueffing, E. Becirovic, 2018, Journal of Cell Science.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

R. Pfundt, R. Roepman, V. Haucke, 2018, bioRxiv.

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.

A. Ekici, H. Dörr, C. Thiel, 2011, European journal of medical genetics.

Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions

C. Thiel, S. Hashemolhosseini, R. Schröder, 2020, Frontiers in Molecular Neuroscience.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Robert W. Taylor, I. Harting, T. Meitinger, 2018, Genetics in Medicine.

Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients

A. Ludolph, Jochen H Weishaupt, A. Hofmann, 2017, Neurobiology of Aging.

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

T. Strom, A. Ekici, M. Reuter, 2017, JAMA psychiatry.

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.

I. Tezcan, C. Thiel, M. Zenker, 2009, The Turkish journal of pediatrics.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

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.

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, R. Gershoni-baruch, G. Hülskamp, 2005, Nature Genetics.

NEK1 mutations cause short-rib polydactyly syndrome type majewski.

A. Ekici, J. Brandstätter, T. Aigner, 2011, American journal of human genetics.

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 the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

D. Seelow, H. Schild, A. Ekici, 2006, American journal of human genetics.

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.

C. Thiel, D. Ungar, T. D. de Koning, 2010, Human molecular genetics.

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP

A. Ekici, B. Rautenstrauss, C. Thiel, 2003, European Journal of Human Genetics.

Congenital disorders of glycosylation (CDG): Quo vadis?

G. Matthijs, U. Kornak, C. Thiel, 2017, European journal of medical genetics.

Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

A. Ekici, C. Thiel, A. Reis, 2018, American journal of medical genetics. Part A.

A novel splice variant expands the LAMC3‐associated cortical phenotype to frontal only polymicrogyria and adult‐onset epilepsy

C. Thiel, A. Reis, C. Zweier, 2020, American journal of medical genetics. Part A.

Making sense of missense variants in TTN-related congenital myopathies

F. Muntoni, M. Gautel, I. Richard, 2021, Acta Neuropathologica.

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

I. Kaitila, G. Mortier, C. Thiel, 2007, American journal of human genetics.

A proteolytic fragment of histone deacetylase 4 protects the heart from failure by regulating the hexosamine biosynthetic pathway

E. Furlong, N. Gretz, M. Völkers, 2017, Nature Medicine.

Carnosine Catalyzes the Formation of the Oligo/Polymeric Products of Methylglyoxal

M. Hecker, H. Baelde, B. Yard, 2018, Cellular Physiology and Biochemistry.

Allosteric inhibition of carnosinase (CN1) by inducing a conformational shift

M. Hecker, G. Vistoli, V. Calabrese, 2017, Journal of enzyme inhibition and medicinal chemistry.

Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma.

V. Willnecker, C. Thiel, A. Rauch, 2011, International journal of oncology.

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

K. Devriendt, R. Hennekam, H. Brunner, 2008, Science.

Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects

C. Thiel, Matthias Zielonka, V. Peters, 2020, Molecular genetics and metabolism reports.

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation‐Ip

G. Matthijs, C. Thiel, Kristen Hanson, 2012, Human mutation.

Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice

H. Gröne, C. Thiel, G. Hoffmann, 2011, Nature Medicine.

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

C. Thiel, A. Reis, C. Zweier, 2016, European journal of medical genetics.

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

A. Ekici, D. Wieczorek, L. Taher, 2019, European Journal of Human Genetics.

Biallelic SEMA3A defects cause a novel type of syndromic short stature

A. Ekici, C. Thiel, H. Sticht, 2013, American journal of medical genetics. Part A.

Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

R. Pfundt, C. Thiel, E. Morava, 2010, Clinical genetics.

SRD5A3-CDG: Twins with an intragenic tandem duplication.

A. Ekici, C. Thiel, A. Reis, 2022, European Journal of Medical Genetics.

A New Type of Congenital Disorders of Glycosylation (CDG-Ii) Provides New Insights into the Early Steps of Dolichol-linked Oligosaccharide Biosynthesis*

K. von Figura, Jianhe Peng, M. Grzmil, 2003, Journal of Biological Chemistry.

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

C. Thiel, K. Tsiakas, S. Kölker, 2021, Journal of inherited metabolic disease.

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

C. Thiel, D. Lefeber, M. Willemsen, 2019, JIMD reports.

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

K. von Figura, C. Thiel, T. D. de Koning, 2004, American journal of human genetics.

PEDIA: prioritization of exome data by image analysis

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

A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder

S. Wortmann, E. Rapp, C. Thiel, 2021, EMBO molecular medicine.

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

A. Ekici, M. Meisterernst, C. Thiel, 2018, Neurogenetics.

Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell–cell adhesion

E. Rapp, C. Thiel, R. Hennig, 2021, The Journal of biological chemistry.

Glycosyltransferase POMGNT1 deficiency affects N-cadherin-mediated cell-cell adhesion

E. Rapp, C. Thiel, R. Hennig, 2020, bioRxiv.

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

U. Schlötzer-Schrehardt, C. Thiel, F. Norwood, 2016, Acta neuropathologica communications.

Targeted Proteomics Reveals Quantitative Differences in Low Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation

B. Niesler, M. Mayer, C. Thiel, 2020, bioRxiv.

Mutations in CDK5RAP2 cause Seckel syndrome

H. Kayserili, G. Nürnberg, P. Nürnberg, 2015, Molecular genetics & genomic medicine.

Fine-structure mapping of the hereditary inclusion body myopathy locus.

C. L. Jackson, C. Thiel, E. Tiram, 1999, Genomics.

Severe ichthyosis in MPDU1-CDG

H. Prokisch, S. Wortmann, E. Mayatepek, 2018, Journal of Inherited Metabolic Disease.

Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1

A. Magener, T. Wienker, T. Becker, 2009, Journal of Medical Genetics.

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

S. Grünert, C. Thiel, T. Marquardt, 2019, Orphanet Journal of Rare Diseases.

A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2.

A. Ekici, C. Thiel, A. Reis, 2020, European journal of medical genetics.

Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.

Nenad Blau, Georg F. Hoffmann, N. Blau, 2018, Molecular genetics and metabolism.

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

A. Ekici, D. Wieczorek, L. Taher, 2019, European Journal of Human Genetics.

Screening for congenital disorders of glycosylation in the first weeks of life

C. Thiel, G. Hoffmann, C. Körner, 2013, Journal of Inherited Metabolic Disease.

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

G. Rappold, T. Ogata, C. Thiel, 2018, European Journal of Human Genetics.

Therapies and therapeutic approaches in Congenital Disorders of Glycosylation

C. Thiel, C. Körner, 2012, Glycoconjugate Journal.

Targeted Disruption of the Mouse Phosphomannomutase 2 Gene Causes Early Embryonic Lethality

K. von Figura, G. Matthijs, C. Thiel, 2006, Molecular and Cellular Biology.

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria

M. Lux, M. Beckmann, P. Fasching, 2018, BMC Cancer.

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

M. Vikkula, A. Winterpacht, M. Fisher, 2009, Journal of Medical Genetics.

Disruption of ST 5 is associated with mental retardation and multiple congenital anomalies

M. Vikkula, A. Winterpacht, M. Fisher, 2010 .

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2020, American journal of human genetics.

A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.

A. Ekici, H. Dörr, C. Thiel, 2008, European journal of medical genetics.

Phenotypic spectrum of Microcephalic osteodysplastic primordial dwarfism type Majewski II caused by mutations in the Pericentrin (PCNT) Gene

K. Devriendt, R. Hennekam, H. Brunner, 2008 .

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, A. Ekici, R. Gershoni-baruch, 2006, Nature Genetics.

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

J. Bizot, C. Thiel, I. Guerrera, 2018, eLife.

Achondrogenesis Type IA (Houston-Harris): A Still-Unresolved Molecular Phenotype

T. Aigner, T. Rau, C. Thiel, 2007, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Protective Actions of Anserine Under Diabetic Conditions

H. Baelde, V. Calabrese, C. Thiel, 2018, International journal of molecular sciences.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis‐Noonan syndrome

R. Fahsold, C. Thiel, H. Sticht, 2009, American Journal of Medical Genetics. Part A.

Clinical and molecular delineation of spondylocostal dysostosis type 3

A. Ekici, C. Thiel, H. Sticht, 2021, Clinical genetics.

Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma.

V. Willnecker, C. Thiel, A. Rauch, 2011, International journal of oncology.