D. Wieczorek

发表

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

M. Bauer, U. Kölsch, R. Krüger, 2015, Journal of Clinical Immunology.

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, Ariana E. Giuliano, J. Wiszniewska, 2014, The Lancet Neurology.

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.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Hagai Bergman, Dagmar Wieczorek, Zvi Israel, 2016, Nature Genetics.

Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia

T. Meitinger, D. Wieczorek, F. Distelmaier, 2019, Genetics in Medicine.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

R. Pfundt, S. Robertson, D. Wieczorek, 2017, American journal of human genetics.

Severe COVID-19 Is Marked by a Dysregulated Myeloid Cell Compartment

Alexander Sczyrba, Andreas Keller, Christian Drosten, 2020, Cell.

Syndrome identification based on 2D analysis software

Tobias Vollmar, Rolf P Wurtz, Gabriele Gillessen-Kaesbach, 2006, European Journal of Human Genetics.

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

H. Ropers, D. Wieczorek, V. Kalscheuer, 2003, European Journal of Human Genetics.

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.

Dagmar Wieczorek, Roberto Giorda, Marcella Zollino, 2002, American journal of human genetics.

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

Sandya Liyanarachchi, Pearlly Yan, Dagmar Wieczorek, 2011, Science.

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

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

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Dagmar Wieczorek, Juliane Hoyer, Ute Moog, 2009, European Journal of Human Genetics.

Homozygous myotonic dystrophy: Clinical findings in two patients and review of the literature

E. Roeder, D. Wieczorek, C. Curry, 2007, American journal of medical genetics. Part A.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Wei Chen, Reinhard Ullmann, Dagmar Wieczorek, 2011, Nature.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

D. Mitter, D. Wieczorek, R. Abou Jamra, 2019, Genetics in Medicine.

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.

Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome

R. Hennekam, H. Cavé, D. Wieczorek, 2007, American journal of medical genetics. Part A.

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

D. Wieczorek, T. Eggermann, B. Horsthemke, 2017, European Journal of Human Genetics.

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

D. Horn, S. Mundlos, J. Allanson, 2007, Journal of Medical Genetics.

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

D. Timmann, D. Wieczorek, G. Gillessen‐kaesbach, 2015, Cerebellum & Ataxias.

ANKRD11 variants: KBG syndrome and beyond

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

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

H. Ropers, D. Wieczorek, S. Tinschert, 2003, European Journal of Human Genetics.

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

K. R. Jun, J. Rosenfeld, J. Schneider, 2016, Cell Death and Differentiation.

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.

Longitudinal Multi-omics Analyses Identify Responses of Megakaryocytes, Erythroid Cells, and Plasmablasts as Hallmarks of Severe COVID-19

Konrad U. Förstner, Philipp H. Schiffer, D. Pe’er, 2020, Immunity.

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

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

A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

J. Hentschel, D. Wieczorek, I. Kurth, 2012, Molecular Syndromology.

Cohen syndrome diagnosis using whole genome arrays

T. Meitinger, T. Strom, N. Klopp, 2010, Journal of Medical Genetics.

SARS‐CoV‐2 targets neurons of 3D human brain organoids

Jay Gopalakrishnan, A. Dilthey, H. Omran, 2020, The EMBO journal.

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

D. Wieczorek, V. Proud, P. Lebon, 2010, Arthritis and rheumatism.

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

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

The face of Noonan syndrome: Does phenotype predict genotype

D. Horn, J. Allanson, D. Wieczorek, 2010, American journal of medical genetics. Part A.

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

D. Horn, S. Uhrig, B. Tüysüz, 2007, Clinical genetics.

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

D. Horn, Soma Das, D. Wieczorek, 2011, Journal of Medical Genetics.

Classification and Visualization Based on Derived Image Features: Application to Genetic Syndromes

R. Würtz, B. Balliu, D. Wieczorek, 2014, PloS one.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement.

D. Wieczorek, R. Jamra, D. Le Duc, 2020, European journal of medical 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.

Penetrance and Expressivity in Inherited Cancer Predisposing Syndromes.

A. Borkhardt, D. Wieczorek, M. Kuhlen, 2018, Trends in cancer.

3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients

D. Wieczorek, C. V. van Ravenswaaij-Arts, B. Sikkema-Raddatz, 2015, American journal of medical genetics. Part A.

Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?

A. Borkhardt, D. Wieczorek, M. Kuhlen, 2017, Molecular and Cellular Pediatrics.

Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis

Quoc Bao Huynh, B. Balliu, Stefan Boehringer, 2018, PeerJ.

Altered Development of NKT Cells, γδ T Cells, CD8 T Cells and NK Cells in a PLZF Deficient Patient

J. Wolchok, D. Wieczorek, B. Horsthemke, 2011, PloS one.

Progenitor cells derived from gene‐engineered human induced pluripotent stem cells as synthetic cancer cell alternatives for in vitro pharmacology

H. Steiger, D. Wieczorek, M. Remke, 2022, Biotechnology journal.

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Alison M. Male, P. Bauer, D. Wieczorek, 2013, Orphanet Journal of Rare Diseases.

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia

D. Wieczorek, B. Horsthemke, D. Böhm, 2008, Journal of Medical Genetics.

Running title: A role for ASPP2 in human congenital disorder

Zubaidah, J. Rosenfeld, Xin Lu, 2018 .

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

D. Wieczorek, C. Spaich, E. Seemanová, 2009, European Journal of Human Genetics.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

P. Lockhart, C. Nellåker, D. Wieczorek, 2021, American journal of human genetics.

Characterization and application of electrically active neuronal networks established from human induced pluripotent stem cell-derived neural progenitor cells for neurotoxicity evaluation.

K. Köhrer, D. Wieczorek, J. Adjaye, 2020, Stem cell research.

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Na Zhu, 2014, American journal of human genetics.

Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.

D. Wieczorek, S. Böhringer, B. Horsthemke, 2006, Human molecular genetics.

Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia

D. Wieczorek, C. Roll, C. Grasemann, 2021, Frontiers in Endocrinology.

The Macrophage Migration Inhibitory Factor (MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery

D. Leaf, P. Meybohm, D. Wieczorek, 2020, Journal of clinical medicine.

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

Stefan Boehringer, D. Wieczorek, B. Horsthemke, 2007, Human Genetics.

Biallelic variants in YRDC cause a developmental disorder with progeroid features

D. Wieczorek, S. Lehnart, P. Nürnberg, 2021, Human Genetics.

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany

R. Chaoui, D. Wieczorek, U. Grasshoff, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1

R. Siebert, G. Mortier, B. Menten, 2010, American journal of medical genetics. Part A.

A family with autosomal dominant oculo-auriculo-vertebral spectrum

D. Wieczorek, S. Böhringer, G. Gillessen‐kaesbach, 2007, Clinical dysmorphology.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

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

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

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

H. Ropers, D. Wieczorek, F. Kortüm, 2010, Nature Genetics.

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations

B. Sellhaus, K. Claeys, D. Wieczorek, 2016, Muscle & nerve.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

F. Rivier, D. Wieczorek, I. Touitou, 2013, European Journal of Human Genetics.

Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction

T. Strom, D. Wieczorek, E. Watrin, 2016, Clinical genetics.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

N. de Leeuw, B. Gener, L. Hoefsloot, 2009, American journal of medical genetics. Part A.

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup‐shaped ears, congenital heart defect, and mental retardation—New MCA/MR syndrome in two affected sibs and a mildly affected mother?

C. Shaw-Smith, A. Coffey, E. Howard, 2007, American journal of medical genetics. Part A.

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

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

Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

D. Wieczorek, K. Zerres, S. Rudnik-Schöneborn, 2016, Clinical genetics.

Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants

D. Wieczorek, L. Grangeon, M. Kraemer, 2019, Child's Nervous System.

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

J. Tolmie, D. Wieczorek, J. Goodship, 2011, European Journal of Human 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.

Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome

D. Wieczorek, F. Degenhardt, C. Zweier, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors

Y. Shiloh, M. Fischer, D. Wieczorek, 2019, Cell.

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

I. Jackson, R. Hennekam, H. Brunner, 2011, PLoS genetics.

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

H. Ropers, D. Wieczorek, A. Tzschach, 2011, Human Genetics.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

D. Sillence, S. Robertson, R. Hennekam, 2017, American Journal of Medical Genetics. Part A.

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

R. Hochstenbach, D. Wieczorek, J. Giltay, 2009, European Journal of Human Genetics.

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

D. Wieczorek, M. Muenke, S. A. Brown, 2001, Human molecular genetics.

Homozygous truncating PTPRF mutation causes athelia

D. Wieczorek, G. Nürnberg, P. Nürnberg, 2014, Human Genetics.

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

E. Haan, R. Nagy, A. de la Chapelle, 2012, Clinical genetics.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

M. Bainbridge, I. Thiffault, A. Torkamani, 2022, Brain : a journal of neurology.

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9

D. Wieczorek, A. Kuechler, H. Lüdecke, 2013, American journal of medical genetics. Part A.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

M. Bihoreau, J. Laplanche, G. Captier, 2019, Genetics in Medicine.

Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers

R. Hennekam, D. Wieczorek, D. Peters, 2009, American journal of medical genetics. Part A.

Clinical and Cytogenetic Characterization of Early and Late Relapses in Patients Allografted for Myeloid Neoplasms with a Myelodysplastic Component

D. Wieczorek, U. Germing, G. Kobbe, 2022, Cancers.

A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype.

D. Wieczorek, G. Gillessen‐kaesbach, K. Schwechheimer, 1997, American journal of medical genetics.

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome

D. Wieczorek, T. Haaf, B. Albrecht, 2010, American journal of medical genetics. Part A.

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

L. Vissers, D. Wieczorek, D. Chitayat, 2019, Kidney international.

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

H. Bolz, D. Wieczorek, K. Kutsche, 2003, American journal of medical genetics. Part A.

Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome

G. Hülskamp, D. Wieczorek, H. Rehder, 2003, Clinical Dysmorphology.

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

D. Seelow, S. Mundlos, M. Blankenburg, 2008, American journal of human genetics.

Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.

D. Wieczorek, T. Voit, J. Schaper, 2003, Neuropediatrics.

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome

E. Kasper, D. Wieczorek, A. Dörfler, 2017, Epilepsy & Behavior.

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

D. Horn, D. Wieczorek, F. Degenhardt, 2013, Journal of Medical Genetics.

Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature

D. Wieczorek, A. Kaindl, N. Didonato, 2014, Developmental medicine and child neurology.

Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment

R. Siebert, D. Wieczorek, B. Horsthemke, 2016, Epigenetics.

Prenatally detected trisomy 4 and 6 mosaicism—cytogenetic results and clinical phenotype

D. Wieczorek, W. Robinson, G. Gillessen‐kaesbach, 2003, Prenatal diagnosis.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

D. Horn, B. Lorenz, D. Wieczorek, 2005, European journal of medical genetics.

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

M. Rosenfeld, S. Levy, H. Omran, 2013, American journal of human genetics.

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

T. Dörk, D. Wieczorek, B. Dworniczak, 1997, Human Genetics.

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)

D. Wieczorek, O. Riess, B. Albrecht, 2000, Journal of medical genetics.

Cardio‐facio‐cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

D. Wieczorek, F. Majewski, Gabriele Giliessen‐Kaesbach, 1997, Clinical genetics.

Cerebrospinal fluid free amino acids in patients with spinal space—Occupying lesions

D. Wieczorek, W. Bock, J. Piek, 1985, Acta Neurochirurgica.

Defining the phenotypical spectrum associated with variants in TUBB2A

D. Wieczorek, I. Krägeloh-Mann, G. Mancini, 2020, Journal of Medical Genetics.

Autosomal dominant intellectual disability

D. Wieczorek, 2018, medizinische genetik.

Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele

D. Wieczorek, Hanns Lochmüller, C. Thirion, 2009, Neuromuscular Disorders.

A review of craniofacial disorders caused by spliceosomal defects

D. Wieczorek, M. Passos-Bueno, R. Zechi-Ceide, 2015, Clinical 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.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Family-based germline sequencing in children with cancer

R. Siebert, A. Borkhardt, D. Wieczorek, 2018, Oncogene.

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

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

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

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 nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

L. Vissers, A. Hoischen, J. Veltman, 2011, Nature Genetics.

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

J. Hebebrand, D. Wieczorek, M. Zenker, 2013, Behavioral and Brain Functions.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

M. Brown, S. Robertson, T. Strom, 2016, American 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

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

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

D. Wieczorek, H. Engels, E. Passarge, 1998, Journal of medical genetics.

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.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

A. Hoischen, R. Pfundt, A. Nordgren, 2014, American journal of human genetics.

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

D. Wieczorek, U. Nuber, M. Hempel, 2019, Nature Communications.

Academic application of Good Cell Culture Practice for induced pluripotent stem cells.

D. Wieczorek, E. Fritsche, J. Tigges, 2021, ALTEX.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

T. Meitinger, T. Strom, D. Wieczorek, 2016, Human mutation.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19

Konrad U. Förstner, Philipp H. Schiffer, Joseph M. Johnson, 2021, Immunity.

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

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

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Abou, N. Brunetti‐Pierri, J. Hentschel, 2022, medRxiv.

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.

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

M. Landthaler, J. Maaskola, D. Wieczorek, 2013, EMBO molecular medicine.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

D. Horn, D. Wieczorek, O. Riess, 2000, European Journal of Human Genetics.

Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients

Konrad U. Förstner, Philipp H. Schiffer, P. Bork, 2020, Genome Medicine.

Tentative clinical diagnosis of Lujan‐Fryns syndrome—A conglomeration of different genetic entities?

S. Haas, A. Rump, D. Wieczorek, 2016, American journal of medical genetics. Part A.

Rare Copy Number Variants Are a Common Cause of Short Stature

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

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Diana Le Duc, P. Bauer, J. Hentschel, 2019, bioRxiv.

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

R. Hennekam, H. Cavé, D. Wieczorek, 2006, Nature Genetics.

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

J. Graham, Q. Waisfisz, D. Wieczorek, 2019, Brain : a journal of neurology.

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

E. Schröck, A. Ekici, D. Wieczorek, 2012, 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.

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.

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

T. Meitinger, T. Strom, P. Lichtner, 2020, American journal of human genetics.

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

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

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

M. Bauer, U. Kölsch, R. Krüger, 2015, Journal of Clinical Immunology.

Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome

A. Borkhardt, D. Wieczorek, M. Kuhlen, 2017, Front. Immunol..

RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

M. C. Cardoso, D. Wieczorek, T. Kurth, 2016, Nature Communications.

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.

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

J. Hebebrand, D. Wieczorek, M. Zenker, 2013, Behavioral and Brain Functions.

Molecular Genetics of Human Facial Dysostoses

D. Wieczorek, J. Czeschik, 2014 .

Human facial dysostoses

D. Wieczorek, 2013, Clinical genetics.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

Genetics of intellectual disability in consanguineous families

T. Wienker, Wei Chen, R. Herwig, 2019, Molecular Psychiatry.

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

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

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR

D. Mitter, D. Wieczorek, U. Mau-Holzmann, 2006, American journal of medical genetics. Part A.

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

G. Mortier, D. Wieczorek, R. Kooy, 2016, European Journal of Human Genetics.

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

L. Hoefsloot, D. Wieczorek, A. Haeringen, 2011, Nature 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.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

R. Pfundt, J. Hurst, A. V. D. van den Ouweland, 2017, European 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.

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.

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

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

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Jürgen Kunze, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2004, European 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.

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.

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

A. Shelling, W. Reardon, R. Veitia, 2010, Human mutation.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

T. Meitinger, T. Strom, A. F. Stewart, 2015, The Journal of clinical investigation.

Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1

T. Meitinger, T. Strom, A. F. Stewart, 2015 .

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Dagmar Wieczorek, William B. Dobyns, Laurence Faivre, 2014, Nature Genetics.

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.

A specific mutation in the distant sonic hedgehog (SHH) cis‐regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

D. Wieczorek, Yun Li, B. Wollnik, 2010, Human mutation.

A mutation screen in patients with Kabuki syndrome

D. Wieczorek, Yun Li, G. Yigit, 2011, Human Genetics.

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.

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

K. Devriendt, D. Wieczorek, T. Kleefstra, 2013, European Journal of Human Genetics.

Neurofibromatosis type 1: A comparison of the 1997 NIH and the 2021 revised diagnostic criteria in 75 children and adolescents.

D. Wieczorek, M. Kuhlen, M. Frühwald, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

J. Gécz, S. Haas, H. Ropers, 2012, American 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.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

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

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

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

R. Pfundt, G. Carvill, I. Scheffer, 2018, Annals of neurology.

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.

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.

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

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

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

D. Wieczorek, B. Puisac, M. Teresa-Rodrigo, 2016, BioMed research international.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

M. Hurles, C. Woods, H. Firth, 2013, Human mutation.

Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation

A. Hoischen, D. Wieczorek, P. Propping, 2007, European Journal of Human Genetics.

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

F. Baas, D. Wieczorek, S. Roosendaal, 2020, European Journal of Human Genetics.

How I approach hereditary cancer predisposition in a child with cancer

R. Siebert, D. Wieczorek, M. Kuhlen, 2019, Pediatric blood & cancer.

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.

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

F. Alkuraya, D. Wieczorek, S. Efthymiou, 2021, Journal of Molecular Medicine.

Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome.

D. Wieczorek, W. Doerfler, B. Albrecht, 1997, American journal of medical genetics.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

K. Buysse, J. Clayton-Smith, G. Mortier, 2011, American journal of medical genetics. Part A.

Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature

D. Wieczorek, D. Lohmann, A. Stein, 2012, European Journal of Pediatrics.

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

D. Horn, D. Wieczorek, S. Tinschert, 2005, European Journal of Human Genetics.

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.

B. Hartmann, D. Wieczorek, T. Rosenbaum, 2013, European journal of medical genetics.

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.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

W. Reardon, H. Brunner, A. Mégarbané, 2013, Orphanet Journal of Rare Diseases.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

D. Horn, B. Gener, D. Lev, 2012, American journal of human genetics.

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

D. Wieczorek, P. Nürnberg, J. Altmüller, 2016, American Journal of Medical Genetics. Part A.

Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection Clusters Based on Integrated Genomic Surveillance, Outbreak Analysis and Contact Tracing in an Urban Setting

Konrad U. Förstner, Philipp H. Schiffer, Jonathan L. Schmid-Burgk, 2021, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Genetics of craniofacial malformations.

D. Wieczorek, J. Amiel, Ariane Schmetz, 2021, Seminars in fetal & neonatal medicine.

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

D. Wieczorek, M. Passos-Bueno, G. Nürnberg, 2014, Genetics in Medicine.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

C. Mercer, D. Wieczorek, Harris Morrison, 2012, Human molecular genetics.

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

D. Wieczorek, D. Lohmann, J. Beygo, 2012, Molecular Syndromology.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

D. Wieczorek, S. Mansour, A. Moore, 2013, European Journal of Human Genetics.

Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

D. Horn, K. Heimdal, D. Wieczorek, 2013, Human mutation.

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

C. Sommer, C. Libioulle, A. Borkhardt, 2021, The Journal of clinical investigation.

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69

C. Sommer, C. Libioulle, A. Borkhardt, 2021, medRxiv.

Gene expression profiling in aggressive digital papillary adenocarcinoma sheds light on the architecture of a rare sweat gland carcinoma

D. Wieczorek, J. Adjaye, R. Büttner, 2019, The British journal of dermatology.

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

M. Tarnopolsky, V. Dolinsky, D. Wieczorek, 2019, Brain : a journal of neurology.

Homozygous truncating PTPRF mutation causes athelia

D. Wieczorek, G. Nürnberg, P. Nürnberg, 2014, Human Genetics.

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

D. Wieczorek, K. Sund, C. Lourenço, 2015, American journal of human genetics.

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.

D. Wieczorek, S. Riazuddin, Z. Ahmed, 2019, American journal of human genetics.

Distal monosomy 18p/distal trisomy 20p—A recognizable facial phenotype?

D. Wieczorek, G. Gillessen‐kaesbach, O. Bartsch, 2003, American journal of medical genetics. Part A.

Wilms' Tumor 1 Gene Expression Using a Standardized European LeukemiaNet-Certified Assay Compared to Other Methods for Detection of Minimal Residual Disease in Myelodysplastic Syndrome and Acute Myelogenous Leukemia after Allogeneic Blood Stem Cell Transplantation.

D. Wieczorek, U. Germing, G. Kobbe, 2018, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Acute myeloid leukemia‐induced functional inhibition of healthy CD34+ hematopoietic stem and progenitor cells

K. Köhrer, D. Wieczorek, Ron-Patrick Cadeddu, 2021, Stem cells.

QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum

A. Borkhardt, D. Wieczorek, R. Abou Jamra, 2020, Clinical 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.

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

E. Zackai, K. Lage, P. Donahoe, 2012, American journal of medical genetics. Part A.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

UBQLN 4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors Graphical

Y. Shiloh, M. Fischer, D. Wieczorek, 2018 .

Fragile X mental retardation protein protects against tumour necrosis factor-mediated cell death and liver injury

A. Borkhardt, D. Wieczorek, A. Pandyra, 2019, Gut.

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

D. Wieczorek, F. Kortüm, E. Seemanová, 2011, Molecular Syndromology.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

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

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

T. de Ravel, R. Hennekam, J. Clayton-Smith, 2008, Human mutation.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

Genetic determination of human facial morphology: links between cleft-lips and normal variation

Wiro J Niessen, Aad van der Lugt, Fedde van der Lijn, 2011, European Journal of Human Genetics.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

Automated syndrome detection in a set of clinical facial photographs

Rolf P Wurtz, Bernhard Horsthemke, Dagmar Wieczorek, 2011, American journal of medical genetics. Part A.

Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces.

Tobias Vollmar, Baerbel Maus, Rolf P Wurtz, 2008, European journal of medical genetics.

Computer-based recognition of dysmorphic faces

Christoph von der Malsburg, Bernhard Horsthemke, Dagmar Wieczorek, 2003, European Journal of Human Genetics.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

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

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Jill A. Madden, P. Grant, A. O’Donnell-Luria, 2021, American journal of human genetics.

Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4‐year‐old boy with possible Wiedemann syndrome

D. Wieczorek, G. Gillessen‐kaesbach, E. Passarge, 1996, Clinical genetics.

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

D. Prayer, A. Mégarbané, D. Wieczorek, 2015, Human mutation.

SARS-CoV-2 targets cortical neurons of 3D human brain organoids and shows neurodegeneration-like effects

A. Dilthey, H. Omran, D. Wieczorek, 2020, bioRxiv.

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.

D. Wieczorek, H. Kayserili, B. Albrecht, 2014, Clinical dysmorphology.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

P. Robinson, D. Horn, D. Wieczorek, 2013, European Journal of Human Genetics.

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

D. Wieczorek, J. Altmüller, Yun Li, 2022, Clinical genetics.

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.

M. Skalej, S. Mane, R. Lifton, 2021, Journal of the American Society of Nephrology : JASN.

Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2017, Nature Genetics.

Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease.

D. Wieczorek, B. Zabel, C. Grasemann, 2013, The Journal of clinical endocrinology and metabolism.

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study

D. Wieczorek, P. Nürnberg, J. Altmüller, 2021, American journal of medical genetics. Part A.

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

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

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.

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

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

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family

T. Klenzner, D. Wieczorek, J. Beygo, 2023, Genes.

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.

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

W. van Paesschen, K. Heimdal, Y. Gillerot, 2007, Human genetics.

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

W. van Paesschen, K. Heimdal, Y. Gillerot, 2007, Human genetics.

A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?

D. Wieczorek, G. Gillessen‐kaesbach, E. Passarge, 1995, Genetic counseling.

Profound inhibition of CD73-dependent formation of anti-inflammatory adenosine in B cells of SLE patients

Matthias Schneider, D. Wieczorek, J. Schrader, 2021, EBioMedicine.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

D. Mitter, D. Wieczorek, R. Abou Jamra, 2019, Genetics in Medicine.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

A. Need, C. Tregidgo, J. Clayton-Smith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES

A. Borkhardt, D. Wieczorek, M. Kuhlen, 2017, European Journal of Pediatrics.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Burn-McKeown Syndrome

D. Wieczorek, H. Lüdecke, 2016 .

Two brothers with Burn‐McKeown syndrome

D. Wieczorek, D. Lohmann, G. Gillessen‐kaesbach, 2003, Clinical dysmorphology.

Oculo‐oto‐facial dysplasia (OOFD) versus Burn–McKeown syndrome

D. Wieczorek, G. Gillessen‐kaesbach, 2006, American journal of medical genetics. Part A.

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

E. Roeder, D. Cummings, H. Smeets, 2009, Journal of Medical Genetics.

Quantitative Next-Generation Sequencing (NGS) Based Monitoring of Minimal Residual Disease (MRD) Predicts Imminent Relapse in Patients with Myeloid Malignancies after Allogeneic Hematopoietic Stem Cell Transplantation

D. Wieczorek, G. Kobbe, R. Haas, 2017 .

Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other.

D. Wieczorek, P. Meinecke, E. Harms, 2001, American journal of medical genetics.

A female patient with partial duplication 22 (q13-->qter).

D. Wieczorek, G. Gillessen‐kaesbach, J. Holtvogt, 1998, Clinical dysmorphology.

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22

D. Wieczorek, M. Sturm, T. Haack, 2018, Klinische Pädiatrie.

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, J. Wiszniewska, S. Cheung, 2013 .

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.

45,X/46,X,dic(Y)-Mosaicism in the Newborn

D. Wieczorek, T. Stallmach, S. Bittmann, 2005, Klinische Pädiatrie.

6th European Congress of Immunology, 1-4 September 2021, Virtual meeting.

Konrad U. Förstner, Philipp H. Schiffer, M. Nöthen, 2021, European journal of immunology.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

N. Brunetti‐Pierri, J. Hentschel, F. Alkuraya, 2022, American journal of human genetics.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

D. Timmann, D. Wieczorek, K. Bürk, 2015, Cerebellum & Ataxias.

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

I. Jackson, R. Hennekam, H. Brunner, 2018, PLoS Genetics.

Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.

D. Wieczorek, B. Köster, G. Gillessen‐Kaesbach, 2002, American journal of medical genetics.