J. Lundin

发表

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter‐ and intra‐individual variation and correlation to the phenotype

L. Jacobson, E. Blennow, A. Lindstrand, 2012, American Journal of Medical Genetics. Part A.

A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1

I. Kockum, C. Söderhäll, M. Omrani, 2008, Human Genetics.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

P. Georgii‐Hemming, A. Nordgren, J. Eisfeldt, 2019, Genome Medicine.

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

J. Schuurs-Hoeijmakers, R. Pfundt, P. Lapunzina, 2009, European journal of medical genetics.

A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement

C. C. Kockum, G. Lackgren, Kristina Lagerstedt-Robinson, 2013, European Journal of Pediatric Surgery.

a novel candidate breast cancer susceptibility locus on

S. Cross, K. Czene, P. Hall, 2017 .

Small mosaic deletion encompassing the snoRNAs and SNURF‐SNRPN results in an atypical Prader–Willi syndrome phenotype

A. Nordgren, M. Lehtihet, B. Anderlid, 2014, American journal of medical genetics. Part A.

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

C. Söderhäll, J. Schoumans, C. C. Kockum, 2010, European journal of medical genetics.

Chimerism resulting from parthenogenetic activation and dispermic fertilization

A. Nordgren, E. Blennow, M. Bondeson, 2010, American journal of medical genetics. Part A.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

B. V. van Bon, R. Pfundt, B. D. de Vries, 2010, Journal of Medical Genetics.

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

D. Nilsson, A. Lindstrand, G. Barker, 2019, Molecular genetics & genomic medicine.

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

D. Nilsson, A. Lindstrand, G. Barker, 2015, Human molecular genetics.

WNT 3 involvement in human bladder exstrophy and cloaca development in zebra fi sh

D. Nilsson, A. Lindstrand, G. Barker, 2015 .

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

O. Mäkitie, Z. Tümer, N. Tommerup, 2018, PLoS genetics.

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis.

J. Eisfeldt, A. Lindstrand, M. Pettersson, 2018, Mutation research.

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

P. Stankiewicz, P. Szafranski, A. Nordgren, 2019, Molecular genetics & genomic medicine.

phenotypes microduplications that show distinctive co-locating 17 p 13 . 3 microdeletions and Further molecular and clinical delineation of

R. Pfundt, C. Martin, A. Wallin, 2022 .

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

S. Cross, M. Beckmann, P. Fasching, 2017, Oncotarget.

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort

D. Nilsson, G. Barker, A. Nordenskjöld, 2018, Human Genome Variation.

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

M. Anderberg, J. Winberg, A. Nordenskjöld, 2022, American journal of medical genetics. Part A.

Molecular and clinical delineation of the 17q22 microdeletion phenotype

S. Knight, A. Nordgren, S. Price, 2013, European Journal of Human Genetics.

Mutational study of the MAMLD1-gene in hypospadias.

A. Nordenskjöld, H.T.T. Thai, E. Markljung, 2010, European journal of medical genetics.

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

P. Svenningsson, I. Savitcheva, F. Laezza, 2020, Journal of internal medicine.

Study on genetic stability in human urothelial cells in vitro

A. Nordenskjöld, M. Fossum, D. Brodin, 2018, Journal of tissue engineering and regenerative medicine.

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

A. Hamosh, Marilyn C. Jones, P. Kruszka, 2017, European Journal of Human Genetics.

Expression quantitative trait methylation analysis elucidates gene regulatory effects of DNA methylation: the Framingham Heart Study

A. Reiner, M. Feolo, N. Sharopova, 2022, medRxiv.

Two novel colorectal cancer risk loci in the region on chromosome 9q22.32

H. Mahdessian, S. Picelli, A. Lindblom, 2018, Oncotarget.

NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion.

Q. Pan-Hammarström, L. Hammarström, R. Romano, 2017, Clinical immunology.