Johanna Lundin

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Articles

Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023;66(10):104824

Tissue specific trisomy 15 mosaicism associated with urogenital malformations.

Nordenskjöld A; Lagerstedt-Robinson K; Anderlid B-M; Lundin J
Article: JOURNAL OF INTERNAL MEDICINE. 2020;288(1):103-115

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27.

Paucar M; Lundin J; Alshammari T; Bergendal Å; Lindefeldt M; Alshammari M; Solders G; Di Re J; Savitcheva I; Granberg T; Laezza F; Iwarsson E; Svenningsson P
Article: GENOME MEDICINE. 2019;11(1):68

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.

Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e666

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

Lundin J; Markljung E; Baranowska Körberg I; Hofmeister W; Cao J; Nilsson D; Holmdahl G; Barker G; Anderberg M; Vukojević V; Lindstrand A; Nordenskjöld A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549

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

Salehi Karlslätt K; Pettersson M; Jäntti N; Szafranski P; Wester T; Husberg B; Ullberg U; Stankiewicz P; Nordgren A; Lundin J; Lindstrand A; Nordenskjöld A
Article: PLOS GENETICS. 2018;14(11):e1007780

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

Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Mäkitie O; Nordgren A; Vezzi F; Wirta V; Käller M; Hjortshøj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tümer Z; Lindstrand A
Article: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2018;812:1-4

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

Pettersson M; Eisfeldt J; Syk Lundberg E; Lundin J; Lindstrand A
Article: ONCOTARGET. 2018;9(13):11170-11179

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

Thutkawkorapin J; Mahdessian H; Barber T; Picelli S; von Holst S; Lundin J; Valle L; Kontham V; Liu T; Nilsson D; Jiao X; Lindblom A
Article: JOURNAL OF TISSUE ENGINEERING AND REGENERATIVE MEDICINE. 2018;12(2):E720-E726

Study on genetic stability in human urothelial cells in vitro.

Chamorro CI; Zeiai S; Reinfeldt Engberg G; Brodin D; Lundin J; Nordenskjöld A; Fossum M
Article: HUMAN GENOME VARIATION. 2018;5:18009

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

Arkani S; Cao J; Lundin J; Nilsson D; Källman T; Barker G; Holmdahl G; Clementsson Kockum C; Matsson H; Nordenskjöld A
Article: ONCOTARGET. 2017;8(61):102769-102782

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

Jiao X; Aravidis C; Marikkannu R; Rantala J; Picelli S; Adamovic T; Liu T; Maguire P; Kremeyer B; Luo L; von Holst S; Kontham V; Thutkawkorapin J; Margolin S; Du Q; Lundin J; Michailidou K; Bolla MK; Wang Q; Dennis J; Lush M; Ambrosone CB; Andrulis IL; Anton-Culver H; Antonenkova NN; Arndt V; Beckmann MW; Blomqvist C; Blot W; Boeckx B; Bojesen SE; Bonanni B; Brand JS; Brauch H; Brenner H; Broeks A; Brüning T; Burwinkel B; Cai Q; Chang-Claude J; NBCS Collaborators; Couch FJ; Cox A; Cross SS; Deming-Halverson SL; Devilee P; Dos-Santos-Silva I; Dörk T; Eriksson M; Fasching PA; Figueroa J; Flesch-Janys D; Flyger H; Gabrielson M; García-Closas M; Giles GG; González-Neira A; Guénel P; Guo Q; Gündert M; Haiman CA; Hallberg E; Hamann U; Harrington P; Hooning MJ; Hopper JL; Huang G; Jakubowska A; Jones ME; Kerin MJ; Kosma V-M; Kristensen VN; Lambrechts D; Le Marchand L; Lubinski J; Mannermaa A; Martens JWM; Meindl A; Milne RL; Mulligan AM; Neuhausen SL; Nevanlinna H; Peto J; Pylkäs K; Radice P; Rhenius V; Sawyer EJ; Schmidt MK; Schmutzler RK; Seynaeve C; Shah M; Simard J; Southey MC; Swerdlow AJ; Truong T; Wendt C; Winqvist R; Zheng W; kConFab/AOCS Investigators; Benitez J; Dunning AM; Pharoah PDP; Easton DF; Czene K; Hall P; Lindblom A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2017;25(8):946-951

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

Weiss K; Wigby K; Fannemel M; Henderson LB; Beck N; Ghali N; Study DDD; Anderlid B-M; Lundin J; Hamosh A; Jones MC; Ghedia S; Muenke M; Kruszka P
Article: CLINICAL IMMUNOLOGY. 2017;176:71-76

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

Romano R; Zaravinos A; Liadaki K; Caridha R; Lundin J; Carlsson G; Winiarski J; Pan-Hammarström Q; Hammarström L
Article: HUMAN MOLECULAR GENETICS. 2015;24(18):5069-5078

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

Baranowska Körberg I; Hofmeister W; Markljung E; Cao J; Nilsson D; Ludwig M; Draaken M; Holmdahl G; Barker G; Reutter H; Vukojević V; Clementson Kockum C; Lundin J; Lindstrand A; Nordenskjöld A
Article: EUROPEAN JOURNAL OF PEDIATRIC SURGERY. 2014;24(4):353-359

A case with bladder exstrophy and unbalanced X chromosome rearrangement.

Soderhall C; Lundin J; Lagerstedt-Robinson K; Grigelioniene G; Lackgren G; Kockum CC; Nordenskjold A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164A(2):425-431

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

Anderlid B-M; Lundin J; Malmgren H; Lehtihet M; Nordgren A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(10):1085-1092

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Laurell T; Lundin J; Anderlid B-M; Gorski JL; Grigelioniene G; Knight SJL; Krepischi ACV; Nordenskjöld A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012;158A(5):1111-1117

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype.

Kvarnung M; Lindstrand A; Malmgren H; Thåström A; Jacobson L; Dahl N; Lundin J; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010;152A(9):2277-2286

Chimerism resulting from parthenogenetic activation and dispermic fertilization.

Winberg J; Gustavsson P; Lagerstedt-Robinson K; Blennow E; Lundin J; Iwarsson E; Nordenström A; Anderlid B-M; Bondeson M-L; Nordenskjöld A; Nordgren A
Article: JOURNAL OF MEDICAL GENETICS. 2010;47(5):299-311

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

Bruno DL; Anderlid B-M; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgström B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BBA; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2010;53(3):122-126

Mutational study of the MAMLD1-gene in hypospadias.

Chen Y; Thai HTT; Lundin J; Lagerstedt-Robinson K; Zhao S; Markljung E; Nordenskjöld A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2010;53(2):61-65

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

Lundin J; Söderhäll C; Lundén L; Hammarsjö A; White I; Schoumans J; Läckgren G; Kockum CC; Nordenskjöld A
Article: BRITISH JOURNAL OF CANCER. 2009;100(10):1674-1679

TGFBR1 variants TGFBR1(*)6A and Int7G24A are not associated with an increased familial colorectal cancer risk.

Skoglund Lundin J; Vandrovcova J; Song B; Zhou X; Zelada-Hedman M; Werelius B; Houlston RS; Lindblom A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2009;52(2-3):77-87

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

Bijlsma EK; Gijsbers ACJ; Schuurs-Hoeijmakers JHM; van Haeringen A; Fransen van de Putte DE; Anderlid B-M; Lundin J; Lapunzina P; Pérez Jurado LA; Delle Chiaie B; Loeys B; Menten B; Oostra A; Verhelst H; Amor DJ; Bruno DL; van Essen AJ; Hordijk R; Sikkema-Raddatz B; Verbruggen KT; Jongmans MCJ; Pfundt R; Reeser HM; Breuning MH; Ruivenkamp CAL
Article: HUMAN GENETICS. 2008;124(2):155-160

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

Thai HTT; Söderhäll C; Lagerstedt K; Omrani MD; Frisén L; Lundin J; Kockum I; Nordenskjöld A
Article: BMC CANCER. 2008;8:87

Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q.

Picelli S; Vandrovcova J; Jones S; Djureinovic T; Skoglund J; Zhou X-L; Velculescu VE; Vogelstein B; Lindblom A
Article: BRITISH JOURNAL OF CANCER. 2007;97(8):1175-1179

TGFBR1(*)6A and Int7G24A variants of transforming growth factor-beta receptor 1 in Swedish familial and sporadic breast cancer.

Song B; Margolin S; Skoglund J; Zhou X; Rantala J; Picelli S; Werelius B; Lindblom A
Article: CLINICAL CANCER RESEARCH. 2007;13(12):3748-3752

Lack of an association between the TGFBR1*6A variant and colorectal cancer risk.

Skoglund J; Song B; Dalén J; Dedorson S; Edler D; Hjern F; Holm J; Lenander C; Lindforss U; Lundqvist N; Olivecrona H; Olsson L; Påhlman L; Rutegård J; Smedh K; Törnqvist A; Houlston RS; Lindblom A
Article: ANTICANCER RESEARCH. 2006;26(4B):3077-3081

The estrogen receptor alpha C975G variant in familial and sporadic breast cancer: a case-control study.

Skoglund J; Margolin S; Zhou X-L; Maguire P; Werelius B; Lindblom A
Article: GUT. 2006;55(3):362-366

A genome wide linkage analysis in Swedish families with hereditary non-familial adenomatous polyposis/non-hereditary non-polyposis colorectal cancer.

Djureinovic T; Skoglund J; Vandrovcova J; Zhou X-L; Kalushkova A; Iselius L; Lindblom A
Article: JOURNAL OF MEDICAL GENETICS. 2006;43(2):e7-e07

Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1.

Skoglund J; Djureinovic T; Zhou X-L; Vandrovcova J; Renkonen E; Iselius L; Bisgaard ML; Peltomäki P; Lindblom A
Article: BREAST CANCER RESEARCH AND TREATMENT. 2005;94(2):145-152

Estrogen receptor beta (ESR2) polymorphisms in familial and sporadic breast cancer.

Maguire P; Margolin S; Skoglund J; Sun X-F; Gustafsson J-A; Børresen-Dale A-L; Lindblom A
Article: ONCOLOGY. 2004;67(1):67-72

Clinicopathological significance of stromelysin-3 expression in colorectal cancer.

Skoglund J; Emterling A; Arbman G; Anglard P; Sun X-F
Article: ONCOLOGY. 2003;64(4):361-369

Clinicopathological significance of Nup88 expression in patients with colorectal cancer.

Emterling A; Skoglund J; Arbman G; Schneider J; Evertsson S; Carstensen J; Zhang H; Sun X-F
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All other publications

Review: EXPERT REVIEW OF ANTICANCER THERAPY. 2004;4(3):377-385

Colorectal cancer as a complex disease: defining at-risk subjects in the general population - a preventive strategy.

Lindblom A; Zhou X-L; Liu T; Liljegren A; Skoglund J; Djureinovic T; Swedish Low-Risk Colorectal Cancer Group

Employments

Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2021-2024

Degrees and Education

Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2007
Master Of Medical Science, Karolinska Institutet, 2002

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