D. Misceo

发表

Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster

B. Roe, E. Eichler, D. Locke, 2003, Genome Biology.

The Common Marmoset Genome Provides Insight into Primate Biology and Evolution

Albert J. Vilella, Charles E. Vejnar, Matthew W. Hahn, 2014, Nature Genetics.

A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications.

E. Eichler, E. Green, D. Misceo, 2006, Genome research.

Tracking the complex flow of chromosome rearrangements from the Hominoidea Ancestor to extant Hylobates and Nomascus Gibbons by high-resolution synteny mapping.

N. Archidiacono, D. Misceo, M. Rocchi, 2008, Genome research.

Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

Stuart Schwartz, Evan E Eichler, Nicoletta Archidiacono, 2002, American journal of human genetics.

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

D. Misceo, K. Ørstavik, T. Iqbal, 2016, Neuromuscular Disorders.

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

D. Misceo, J. Koht, L. Bindoff, 2014, PloS one.

STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone.

S. Corti, D. Misceo, J. Reseland, 2019, Cell calcium.

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

D. Misceo, S. Antonarakis, S. Riazuddin, 2017, Genetics in Medicine.

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.

D. Misceo, E. Frengen, O. Rødningen, 2014, European journal of medical genetics.

Delineating the GRIN1 phenotypic spectrum A distinct genetic NMDA receptor encephalopathy

D. Misceo, J. Hentschel, V. Narayanan, 2022 .

Human TGF-β1 deficiency causes severe inflammatory bowel disease and neurodevelopmental delay

D. Misceo, C. Klein, I. Borggraefe, 2018 .

The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome

R. Pfundt, D. Misceo, Yaping Yang, 2020, Human mutation.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

D. Misceo, C. Venditti, R. Wevers, 2022, Brain : a journal of neurology.

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient

D. Misceo, M. Rocchi, E. Ormerod, 2008, American journal of medical genetics. Part A.

TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.

D. Misceo, C. Gilissen, P. Strømme, 2019, Pediatric neurology.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

A. Pagnamenta, J. Lupski, D. Misceo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism

D. Misceo, P. Strømme, E. Frengen, 2011, American journal of medical genetics. Part A.

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

D. Misceo, S. Ferdinandusse, H. Waterham, 2015, Human molecular genetics.

STIM1 R304W causes muscle degeneration and impaired platelet activation in mice.

D. Misceo, H. Westerblad, G. Christensen, 2018, Cell calcium.

A Dominant STIM1 Mutation Causes Stormorken Syndrome

D. Misceo, R. Lyle, A. Stray-Pedersen, 2014, Human mutation.

Primate chromosome evolution: Ancestral karyotypes, marker order and neocentromeres

N. Archidiacono, D. Misceo, M. Cardone, 2008, Chromosome Research.

Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications.

B. Roe, E. Eichler, J. Bailey, 2003, Molecular biology and evolution.

Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy

D. Misceo, C. Klein, S. Snapper, 2018, Nature Genetics.

Molecular evolution of the human chromosome 15 pericentromeric region

E. Eichler, D. Locke, L. M. Pertz, 2004, Cytogenetic and Genome Research.

Comparative Genomics and Molecular Evolution

D. Locke, L. M. Pertz, D. Misceo, 2004 .

Divergent origins and concerted expansion of two segmental duplications on chromosome 16.

E. Eichler, C. Alkan, E. Tuzun, 2001, The Journal of heredity.

Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX3 Expression

D. Misceo, Ø. Braaten, E. Frengen, 2013, American journal of medical genetics. Part A.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms.

N. Archidiacono, D. Misceo, M. Rocchi, 2002, Genome research.

Evolutionary movement of centromeres in horse, donkey, and zebra.

N. Archidiacono, D. Misceo, M. Rocchi, 2006, Genomics.

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother

D. Misceo, E. Ormerod, G. Houge, 2009, American journal of medical genetics. Part A.

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

D. Misceo, D. Schneidman-Duhovny, J. Duncan, 2020, bioRxiv.

A homozygous missense mutation in SLCO1C1 may cause a novel progressive encephalopathy syndrome A student thesis in medicine by Anette Torgersbråten 2 Acknowledgements

D. Misceo, E. Frengen, A. Holmgren, 2016 .

A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl.

D. Misceo, E. Frengen, N. Andreescu, 2014, Gene.

Delineating the GRIN1 phenotypic spectrum

D. Misceo, L. de Meirleir, J. Hentschel, 2016, Neurology.

A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22

D. Misceo, M. Rocchi, E. Frengen, 2009, American journal of medical genetics. Part A.

Recurrent sites for new centromere seeding.

E. Eichler, N. Archidiacono, D. Misceo, 2004, Genome research.

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

D. Misceo, E. Frengen, M. Fannemel, 2015, Molecular Cytogenetics.

A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy.

D. Misceo, E. Frengen, M. Fannemel, 2013, European journal of medical genetics.

1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.

D. Misceo, Ø. Braaten, E. Frengen, 2012, Gene.

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

D. Misceo, A. Stray-Pedersen, P. Strømme, 2013, Orphanet Journal of Rare Diseases.

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

D. Misceo, P. Strømme, E. Frengen, 2015, American journal of medical genetics. Part A.

A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome–causing R304W mutation

D. Misceo, C. Romanin, J. Reseland, 2023, Science Signaling.

Evolutionary history of chromosome 11 featuring four distinct centromere repositioning events in Catarrhini.

N. Archidiacono, D. Misceo, M. Cardone, 2007, Genomics.

Refinement of macaque synteny arrangement with respect to the official rheMac2 macaque sequence assembly

N. Archidiacono, D. Misceo, M. Rocchi, 2008, Chromosome Research.

Evolutionary history of chromosome 20.

N. Archidiacono, D. Misceo, M. Cardone, 2004, Molecular biology and evolution.

A satellite-like sequence, representing a “clone gap” in the human genome, was likely involved in the seeding of a novel centromere in macaque

D. Misceo, M. Cardone, M. Rocchi, 2008, Chromosoma.

SCA27 caused by a chromosome translocation: further delineation of the phenotype

D. Misceo, R. Roberto, P. Strømme, 2009, neurogenetics.

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

D. Misceo, P. Strømme, E. Frengen, 2016, Genes.

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

D. Misceo, R. Lyle, S. Nakken, 2011, European Journal of Human Genetics.

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

D. Misceo, H. Omran, N. Katsanis, 2020, Human mutation.

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

D. Misceo, R. Rodenburg, P. Strømme, 2016, European journal of medical genetics.

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

D. Misceo, A. Stray-Pedersen, P. Strømme, 2016, Genes.

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.

D. Misceo, P. Strømme, E. Frengen, 2010, European journal of medical genetics.

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

D. Misceo, C. Gilissen, A. Server, 2020, BMC Medical Genetics.

Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration.

D. Misceo, H. Zetterberg, T. Visser, 2018, Thyroid : official journal of the American Thyroid Association.

DNA methylation episignature in Gabriele-de Vries syndrome.

D. Misceo, W. Craigen, R. Louie, 2022, Genetics in Medicine.

Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay

D. Misceo, E. Frengen, M. Fannemel, 2015, American journal of medical genetics. Part A.

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

D. Misceo, S. Antonarakis, S. Riazuddin, 2018, Genetics in Medicine.

A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.

D. Misceo, O. Kanavin, E. Frengen, 2012, European journal of medical genetics.

Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay.

D. Misceo, E. Frengen, V. Dissanayake, 2014, Gene.

The common marmoset genome provides insight into primate biology and evolution

Albert J. Vilella, Charles E. Vejnar, Miriam K. Konkel, 2014, Nature Genetics.

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

D. Misceo, T. Nyman, B. Dalhus, 2023, Brain : a journal of neurology.

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother

D. Misceo, E. Ormerod, G. Houge, 2009, American journal of medical genetics. Part A.

A Dominant STIM1 Mutation Causes Stormorken Syndrome

D. Misceo, R. Lyle, A. Stray-Pedersen, 2014, Human mutation.