This page in English
Laddar profil information

Om mig

Jag arbetar som kliniskt aktiv forskare på KI/KS och leder en forskargrupp som arbetar med translationell forskning i frontlinjen med fokus på underliggande cellulära mekanismer hos de patienter med sällsynta genetiska sjukdomar jag  träffar i mitt arbete som specialistläkare i klinisk genetik. Med ny genteknik som exom- och helgenom- sekvensering kan vi snabbt kartlägga genetiken hos patienterna och identifiera misstänkta sjukdomsgener. För att stärka kopplingen mellan genetisk förändring och kliniska symtom utförs sedan funktionella studier i patientprov, cellinjer samt i zebrafisk. Våra fynd förs sedan tillbaka till vården i form av ny information om geners funktion och som genetisk rådgivning till den specifika familjen.

Forskningsbeskrivning

Se den engelska sidan för mer information

Publikationer

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Pettersson M, Vaz R, Hammarsjö A, Eisfeldt J, Carvalho Cmb, Hofmeister W, et al
Human mutation 2018;39(10):1456-1467

AMYCNE: Confident copy number assessment using whole genome sequencing data
Eisfeldt J, Nilsson D, Andersson-assarsson Jc, Lindstrand A
PloS one 2018;13(3):e0189710-

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Adnp Consortium, Van Dijck A, Vulto-van Silfhout At, Cappuyns E, Van Der Werf Im, Mancini Gm, et al
Biological psychiatry 2018;():-

De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy
Kiselev A, Vaz R, Knyazeva A, Khudiakov A, Tarnovskaya S, Liu J, et al
Human mutation 2018;39(9):1161-1172

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
Mutation research 2018;812():1-4

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing
Tran An, Taylan F, Zachariadis V, Ivanov Öfverholm I, Lindstrand A, Vezzi F, et al
PloS one 2018;13(3):e0193928-

Male reproductive health statement (XIIIth international symposium on Spermatology, may 9th-12th 2018, Stockholm, Sweden
Levine H, Mohri H, Ekbom A, Ramos L, Parker G, Roldan E, et al
Basic and clinical andrology 2018;28():13-

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes
Grochowski Cm, Gu S, Yuan B, Tcw J, Brennand Kj, Sebat J, et al
Human mutation 2018;39(7):939-946

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
Costantini A, Skarp S, Kampe A, Makitie Re, Pettersson M, Mannikko M, et al
FRONTIERS IN ENDOCRINOLOGY 2018;:380-

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, et al
PLoS genetics 2018;14(11):e1007780-

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish
Hofmeister W, Pettersson M, Kurtoglu D, Armenio M, Eisfeldt J, Papadogiannakis N, et al
Human mutation 2018;39(4):495-505

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)
Grigelioniene G, Nevalainen Pi, Reyes M, Thiele S, Tafaj O, Molinaro A, et al
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017;32(4):776-783

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways
Pettersson M, Viljakainen H, Loid P, Mustila T, Pekkinen M, Armenio M, et al
The Journal of clinical endocrinology and metabolism 2017;102(8):3029-3039

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity
Pettersson M, Bergendal B, Norderyd J, Nilsson D, Anderlid Bm, Nordgren A, et al
American journal of medical genetics. Part A 2017;173(5):1396-1399

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker Mr, Heymann G, Wang T, Coe Bp, Turner Tn, Stessman Haf, et al
Nature neuroscience 2017;20(8):1043-1051

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
Bramswig Nc, Lüdecke Hj, Pettersson M, Albrecht B, Bernier Ra, Cremer K, et al
Human genetics 2017;136(2):179-192

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha Km, et al
Scientific reports 2017;7(1):15585-

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization
Kämpe Aj, Costantini A, Levy-shraga Y, Zeitlin L, Roschger P, Taylan F, et al
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017;32(12):2394-2404

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman Haf, Xiong B, Coe Bp, Wang Ty, Hoekzema K, Fenckova M, et al
NATURE GENETICS 2017;49(4):515-526

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data
Eisfeldt J, Vezzi F, Olason P, Nilsson D, Lindstrand A
F1000Research 2017;6():664-

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, et al
Human mutation 2017;38(2):180-192

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham E, Eklund Ea, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-robinson K, et al
European journal of human genetics : EJHG 2016;24(2):198-207

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Lindstrand A, Frangakis S, Carvalho Cm, Richardson Eb, Mcfadden Ka, Willer Jr, et al
American journal of human genetics 2016;99(2):318-36

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Molecular Basis Of Periodontal Eds Consortium, Kapferer-seebacher I, Pepin M, Werner R, Aitman Tj, Nordgren A, et al
American journal of human genetics 2016;99(5):1005-1014

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, et al
Clinical genetics 2015;87(5):496-8

CTNND2-a candidate gene for reading problems and mild intellectual disability
Hofmeister W, Nilsson D, Topa A, Anderlid Bm, Darki F, Matsson H, et al
Journal of medical genetics 2015;52(2):111-22

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features
Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs Ha, et al
American journal of human genetics 2015;96(3):507-13

Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland
Viljakainen H, Andersson-assarsson Jc, Armenio M, Pekkinen M, Pettersson M, Valta H, et al
PloS one 2015;10(7):e0131883-

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish
Baranowska Körberg I, Hofmeister W, Markljung E, Cao J, Nilsson D, Ludwig M, et al
Human molecular genetics 2015;24(18):5069-78

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid Bm, et al
Journal of medical genetics 2014;51(1):45-54

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, et al
Molecular genetics & genomic medicine 2014;2(5):402-11

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome
Lindstrand A, Davis Ee, Carvalho Cm, Pehlivan D, Willer Jr, Tsai Ic, et al
American journal of human genetics 2014;94(5):745-54

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Kvarnung M, Nilsson D, Lindstrand A, Korenke Gc, Chiang Sc, Blennow E, et al
Journal of medical genetics 2013;50(8):521-8

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
Hjeij R, Lindstrand A, Francis R, Zariwala Ma, Liu Xq, Li Y, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2013;93(2):357-67

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Chaki M, Airik R, Ghosh Ak, Giles Rh, Chen R, Slaats Gg, et al
CELL 2012;150(3):533-48

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, et al
American journal of medical genetics. Part A 2012;158A(5):1111-7

Detailed molecular and clinical characterization of three patients with 21q deletions
Lindstrand A, Malmgren H, Sahlen S, Schoumans J, Nordgren A, Ergander U, et al
CLINICAL GENETICS 2010;77(2):145-54

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
Bruno Dl, Anderlid Bm, Lindstrand A, Van Ravenswaaij-arts C, Ganesamoorthy D, Lundin J, et al
JOURNAL OF MEDICAL GENETICS 2010;47(5):299-311

Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH
Lindstrand A, Schoumans J, Gustavsson P, Hanemaaijer N, Malmgren H, Blennow E
CLINICAL GENETICS 2010;77(6):552-62

Molecular and Clinical Characterization of Patients With Overlapping 10p Deletions
Lindstrand A, Malmgren H, Verri A, Benetti E, Eriksson M, Nordgren A, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2010;152A(5):1233-43

Molecular Cytogenetic Characterization of a Constitutional, Highly Complex Intrachromosomal Rearrangement of Chromosome 1, With 14 Breakpoints and a 0.5 Mb Submicroscopic Deletion
Lindstrand A, Malmgren H, Sahlen S, Xin H, Schoumans J, Blennow E
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2008;146A(24):3217-22

Visa alla publikationer

Karta