C. Fagerberg

发表

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Ryan L. Collins, A. Silahtaroglu, N. Tommerup, 2018, American journal of human genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

N. Brunetti‐Pierri, M. Mansukhani, F. Santos-Simarro, 2021, American journal of medical genetics. Part A.

Thermodynamic stability and denaturation kinetics of a benign natural transthyretin mutant identified in a Danish kindred

E. Powers, C. Fagerberg, M. Groenning, 2011, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Histiocytic disorders of the gastrointestinal tract.

J. Lindebjerg, F. B. Sørensen, N. Marcussen, 2013, Human pathology.

Chromosomal Aberrations in Monozygotic and Dizygotic Twins Versus Singletons in Denmark During 1968–2009

K. Christensen, C. Fagerberg, J. Hertz, 2017, Twin Research and Human Genetics.

17q12 deletion and duplication syndrome in Denmark—A clinical cohort of 38 patients and review of the literature

L. Sunde, C. Fagerberg, I. Bache, 2016, American journal of medical genetics. Part A.

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.

Progress in pathology Histiocytic disorders of the gastrointestinal tract

J. Lindebjerg, F. B. Sørensen, N. Marcussen, 2013 .

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18

C. Fagerberg, I. Bache, I. Vogel, 2020, Prenatal diagnosis.

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.

Marni J. Falk, H. Hakonarson, C. Walsh, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

S. Twigg, L. Ousager, C. Fagerberg, 2016, 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.

Heart defects and other features of the 22q11 distal deletion syndrome.

L. Ousager, M. Kirchhoff, C. Fagerberg, 2013, European journal of medical genetics.

Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult

J. Østergaard, C. Fagerberg, J. Thormann, 2012, Clinical dysmorphology.

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

T. B. Rasmussen, C. Fagerberg, D. Nielsen, 2022, Clinical genetics.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

A. Fry, M. Parker, A. Novelli, 2020, Clinical genetics.

Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association

D. Cacchiarelli, M. Cesana, L. Micale, 2022, Human Genetics.

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Effects of eight neuropsychiatric copy number variants on human brain structure

Allison G. Dempsey, M. Owen, R. Buckner, 2021, Translational Psychiatry.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Marni J. Falk, Donna M. Martin, R. Pfundt, 2019, American journal of human genetics.

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation

C. Hafner, C. Fagerberg, O. Clemmensen, 2011, BMC Medical Genetics.

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Peter Nürnberg, Susanne Schoch, Christian Hafner, 2014, American journal of human genetics.

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

C. Fagerberg, J. Fischer, Marc-Alexander Rauschendorf, 2018, The British journal of dermatology.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

J. Rosenfeld, D. Merico, A. C. Lionel, 2013 .

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders

M. Larsen, C. Fagerberg, I. Barsukov, 2021, bioRxiv.

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

C. Fagerberg, J. Hertz, K. Sørensen, 2019, BMC Neurology.

Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema

A. Irrthum, J. Mulliken, M. Vikkula, 2013, Molecular Syndromology.

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

N. Brown, H. Peeters, E. Eichler, 2020, American journal of human genetics.

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Gene W. Yeo, S. Gabriel, F. Baas, 2016, Nature Genetics.

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

J. Fryns, M. Kirchhoff, C. Fagerberg, 2009, American journal of medical genetics. Part A.

M. Larsen, C. Fagerberg, L. Krogh, 2019, European journal of medical genetics.

Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review

C. Fagerberg, I. Bache, I. Vogel, 2020, Prenatal diagnosis.

International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency.

Tom Bowen, Erik Waage Nielsen, Hilary Longhurst, 2012, The Journal of allergy and clinical immunology.

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

A. Brusco, O. Zuffardi, C. Fagerberg, 2014, American journal of medical genetics. Part A.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Stephen W. Wilson, R. Holt, E. van Binsbergen, 2019, American journal of human genetics.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency

C. Fagerberg, N. Monnier, J. Lunardi, 2011, Allergy.

Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema

C. Fagerberg, K. Andersen, A. Bygum, 2017, Orphanet Journal of Rare Diseases.

Syddansk Universitet Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary

C. Fagerberg, K. Andersen, A. Bygum, 2017 .

Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine.

C. Fagerberg, L. Laulund, M. J. Larsen, 2023, European journal of medical genetics.

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.

A novel mutation affecting the arginine‐137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin‐2

C. Fagerberg, S. Rittig, H. Dieperink, 2016, Physiological reports.

Syddansk Universitet A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2 Hinrichs,

C. Fagerberg, S. Rittig, H. Dieperink, 2016 .

National data on the early clinical use of non‐invasive prenatal testing in public and private healthcare in Denmark 2013–2017

C. Fagerberg, I. Vogel, A. Tabor, 2020, Acta obstetricia et gynecologica Scandinavica.

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.

Transient congenital hyperinsulinism and hemolytic disease of a newborn despite rhesus D prophylaxis: a case report

H. Christesen, C. Fagerberg, K. Brusgaard, 2021, Journal of Medical Case Reports.

A Novel Pseudo-Dicentric Variant of 16p11.2–q11.2 Contains Euchromatin from 16p11.2–p11.1 and Resembles Pathogenic Duplications of Proximal 16q

V. Maloney, J. Barber, C. Fagerberg, 2012, Cytogenetic and Genome Research.

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

W. Chung, Kristen Wigby, C. Fagerberg, 2022, Genes.

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

T. Kleefstra, C. Fagerberg, M. Kurian, 2021, medRxiv.

University of Southern Denmark Chromosomal Aberrations in Monozygotic and Dizygotic Twins Versus Singletons in Denmark

K. Christensen, C. Fagerberg, J. Hertz, 2017 .

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.

C. Fagerberg, C. Brasch-Andersen, A. M. Jelsig, 2012, European journal of medical genetics.

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Z. Tümer, J. Christodoulou, M. Larsen, 2018, Clinical genetics.

Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype

S. Kjaergaard, C. Fagerberg, C. Lautrup, 2008, Acta obstetricia et gynecologica Scandinavica.

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

A. Hoischen, I. V. van Rooij, K. Devriendt, 2019, European Journal of Human Genetics.

PEDIA: prioritization of exome data by image analysis

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

Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect

C. Fagerberg, P. Ravn, D. Hansen, 2020, Clinical genetics.

Total number of reads affects the accuracy of fetal fraction estimates in NIPT

M. Larsen, C. Fagerberg, C. Brasch-Andersen, 2021, Molecular genetics & genomic medicine.

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins

P. Striano, M. Larsen, Philippe M. Campeau, 2021, Clinical genetics.

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

H. Mefford, E. Zackai, D. Zeevi, 2020, American journal of human genetics.

Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions

S. Holden, U. Jensen, C. Fagerberg, 2021, Clinical genetics.

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.

C. Fagerberg, C. Brasch-Andersen, L. Andreasen, 2021, European Journal of Medical Genetics.

Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression

J. Vissing, C. Fagerberg, B. Bentzen, 2018, Neurology: Genetics.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

B. V. van Bon, R. Pfundt, L. Armengol, 2023, The Journal of clinical investigation.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

A. Pagnamenta, M. Nieto, Z. Tümer, 2023, European Journal of Human Genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

M. Larsen, C. Fagerberg, L. Krogh, 2019, European journal of medical genetics.

A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.

C. Fagerberg, T. Mogensen, C. Nielsen, 2023, Journal of Clinical Immunology.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.