Peter Gustavsson

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Articles

Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Bjoerck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjoe A; Helgadottir HT; Hellstroem-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindeloef H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: GENOME MEDICINE. 2021;13(1):40
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2020;8(2):e1084
Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations
Winberg J; Gustavsson P; Sahlin E; Larsson M; Ehren H; Fossum M; Wester T; Nordgren A; Nordenskjold A
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; Hammarsjo A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjold M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: PLOS ONE. 2019;14(1):e0210017
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth
Sahlin E; Green A; Gustavsson P; Lieden A; Nordenskjold M; Papadogiannakis N; Pettersson K; Nilsson D; Jonasson J; Iwarsson E
Article: HUMAN MOLECULAR GENETICS. 2018;27(24):4218-4230
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.
De Castro SCP; Gustavsson P; Marshall AR; Gordon WM; Galea G; Nikolopoulou E; Savery D; Rolo A; Stanier P; Andersen B; Copp AJ; Greene NDE
Article: CEREBELLUM. 2018;17(4):465-476
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19
Paucar M; Bergendal A; Gustavsson P; Nordenskjold M; Laffita-Mesa J; Savitcheva I; Svenningsson P
Article: HUMAN MUTATION. 2018;39(4):495-505
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; Gustavsson P; Lindstrand A
Article: JOURNAL OF GENETIC COUNSELING. 2017;26(3):447-454
Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden
Georgsson S; Sahlin E; Iwarsson M; Nordenskjold M; Gustavsson P; Iwarsson E
Article: HUMAN MUTATION. 2017;38(2):180-192
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; Forster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Makitie O; Wirta V; Kaller M; Vezzi F; Lupski JR; Nordenskjold M; Lundberg ES; Carvalho CMB; Lindstrand A
Article: SCIENTIFIC REPORTS. 2016;6:28253
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
Buena-Atienza E; Ruether K; Baumann B; Bergholz R; Birch D; De Baere E; Dollfus H; Greally MT; Gustavsson P; Hamel CP; Heckenlively JR; Leroy BP; Plomp AS; Pott JWR; Rose K; Rosenberg T; Stark Z; Verheij JBGM; Weleber R; Zobor D; Weisschuh N; Kohl S; Wissinger B
Article: PLOS ONE. 2016;11(5):e0156088
Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women
Sahlin E; Nordenskjold M; Gustavsson P; Wincent J; Georgsson S; Iwarsson E
Article: JAMA SURGERY. 2015;150(6):512-518
Short-term Results of a Magnetic Resonance Imaging-Based Swedish Screening Program for Individuals at Risk for Pancreatic Cancer
Del Chiaro M; Verbeke CS; Kartalis N; Mucelli RP; Gustafsson P; Hansson J; Haas SL; Segersvard R; Andren-Sandberg A; Lohr J-M
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2015;58(3):129-133
No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations
Winberg J; Berggren H; Malm T; Johansson S; Ramgren JJ; Nilsson B; Lieden A; Nordenskjold A; Gustavsson P; Nordgren A
Article: FETAL DIAGNOSIS AND THERAPY. 2014;36(4):326-332
Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases
Sahlin E; Gustavsson P; Lieden A; Papadogiannakis N; Bjareborn L; Pettersson K; Nordenskjold M; Iwarsson E
Article: PLOS ONE. 2014;9(1):e85313
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association
Winberg J; Gustavsson P; Papadogiannakis N; Sahlin E; Bradley F; Nordenskjold E; Svensson P-J; Anneren G; Iwarsson E; Nordgren A; Nordenskjold A
Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid B-M; Kant SG; Ruivenkamp CAL; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjold M; Makitie O; Nordgren A
Article: BIRTH DEFECTS RESEARCH. 2013;97(6):398-402
Is LMNB1 a susceptibility gene for neural tube defects in humans?
Robinson A; Partridge D; Malhas A; De Castro SCP; Gustavsson P; Thompson DN; Vaux DJ; Copp AJ; Stanier P; Bassuk AG; Greene NDE
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161A(6):1284-1290
Partial Tetrasomy 14 Associated With Multiple Malformations
Winberg J; Robinson KL; Naess K; Lesko N; Wibom R; Lieden A; Anderlid B-M; Graff C; Nordenskjoeld A; Nordgren A; Gustavsson P
Article: MOLECULAR AND CELLULAR BIOCHEMISTRY. 2013;378(1-2):229-236
Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain
Leung K-Y; De Castro SCP; Cabreiro F; Gustavsson P; Copp AJ; Greene NDE
Article: HUMAN MOLECULAR GENETICS. 2012;21(7):1496-1503
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans
Narisawa A; Komatsuzaki S; Kikuchi A; Niihori T; Aoki Y; Fujiwara K; Tanemura M; Hata A; Suzuki Y; Relton CL; Grinham J; Leung K-Y; Partridge D; Robinson A; Stone V; Gustavsson P; Stanier P; Copp AJ; Greene NDE; Tominaga T; Matsubara Y; Kure S
Article: PLOS GENETICS. 2012;8(11):e1003059
Lamin B1 Polymorphism Influences Morphology of the Nuclear Envelope, Cell Cycle Progression, and Risk of Neural Tube Defects in Mice
De Castro SCP; Malhas A; Leung K-Y; Gustavsson P; Vaux DJ; Copp AJ; Greene NDE
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2011;156B(2):115-124
Copy Number Variation Characteristics in Subpopulations of Patients With Autism Spectrum Disorders
Bremer A; Giacobini M; Eriksson M; Gustavsson P; Nordin V; Fernell E; Gillberg C; Nordgren A; Uppstromer A; Anderlid B-M; Nordenskjold M; Schoumans J
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; Nordenstrom A; Anderlid B-M; Bondeson M-L; Nordenskjold A; Nordgren A
Article: CLINICAL GENETICS. 2010;77(6):552-562
Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH
Lindstrand A; Schoumans J; Gustavsson P; Hanemaaijer N; Malmgren H; Blennow E
Article: HUMAN MOLECULAR GENETICS. 2008;17(2):256-265
Alpha-cardiac actin mutations produce atrial septal defects.
Matsson H; Eason J; Bookwalter CS; Klar J; Gustavsson P; Sunnegårdh J; Enell H; Jonzon A; Vikkula M; Gutierrez I; Granados-Riveron J; Pope M; Bu'Lock F; Cox J; Robinson TE; Song F; Brook DJ; Marston S; Trybus KM; Dahl N
Article: HUMAN MOLECULAR GENETICS. 2007;16(21):2640-2646
Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model.
Gustavsson P; Greene NDE; Lad D; Pauws E; de Castro SCP; Stanier P; Copp AJ
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2007;50(3):237-241
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
Gustavsson P; Schoumans J; Staaf J; Borg A; Nordenskjold M; Anneren G
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(8):970-977
Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation
Mansouri MR; Marklund L; Gustavsson P; Davey E; Carlsson B; Larsson C; White I; Gustavson KH; Dahl N
Article: JOURNAL OF MEDICAL GENETICS. 2003;40(12):e133-133
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene -: art. no. e133
Dianzani I; Garelli E; Gustavsson P; Carando A; Gustafsson B; Dahl N; Annerén G
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2002;119(1):261-264
Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene
Gustavsson P; Klar J; Matsson H; Forestier E; Henter JI; Rao S; Seip M; Skeppner G; Dahl N
Article: HUMAN GENETICS. 2002;110(2):145-147
Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism
Ahlbom BE; Yaqoob M; Gustavsson P; Abbas HG; Annerén G; Larsson A; Wadelius C
Article: UPSALA JOURNAL OF MEDICAL SCIENCES. 2002;107(1):1-8
Merging classical and modern genetic tools in the identification of disease genes.
Gustavsson P
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2000;85(5):2042-2047
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.
Carling T; Szabo E; Bai M; Ridefelt P; Westin G; Gustavsson P; Trivedi S; Hellman P; Brown EM; Dahl N; Rastad J
Article: JOURNAL OF MEDICAL GENETICS. 2000;37(2):128-131
A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome
Tentler D; Gustavsson P; Elinder G; Eklöf O; Gordon L; Mandel A; Dahl N
Article: BLOOD. 1999;94(12):4294-4306
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.
Willig TN; Draptchinskaia N; Dianzani I; Ball S; Niemeyer C; Ramenghi U; Orfali K; Gustavsson P; Garelli E; Brusco A; Tiemann C; Pérignon JL; Bouchier C; Cicchiello L; Dahl N; Mohandas N; Tchernia G
Article: HUMAN GENETICS. 1999;105(5):496-500
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.
Matsson H; Klar J; Draptchinskaia N; Gustavsson P; Carlsson B; Bowers D; de Bont E; Dahl N
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 1999;7(5):541-548
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.
Tentler D; Gustavsson P; Leisti J; Schueler M; Chelly J; Timonen E; Annerén G; Willard HF; Dahl N
Article: CLINICAL GENETICS. 1999;55(6):487-492
A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation.
Cario H; Bode H; Gustavsson P; Dahl N; Kohne E
Article: BRITISH JOURNAL OF HAEMATOLOGY. 1999;104(4):841-848
Diamond-Blackfan anaemia in the Italian population.
Ramenghi U; Garelli E; Valtolina S; Campagnoli MF; Timeus F; Crescenzio N; Mair M; Varotto S; D'Avanzo M; Nobili B; Massolo F; Mori PG; Locatelli F; Gustavsson P; Dahl N; Dianzani I
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 1999;82(4):348-351
Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).
Gustavsson P; Kimber E; Wahlström J; Annerén G
Article: NATURE GENETICS. 1999;21(2):169-175
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Draptchinskaia N; Gustavsson P; Andersson B; Pettersson M; Willig TN; Dianzani I; Ball S; Tchernia G; Klar J; Matsson H; Tentler D; Mohandas N; Carlsson B; Dahl N
Article: BLOOD. 1998;92(11):4422-4427
High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP).
Willig TN; Pérignon JL; Gustavsson P; Gane P; Draptchinskaya N; Testard H; Girot R; Debré M; Stéphan JL; Chenel C; Cartron JP; Dahl N; Tchernia G
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 1998;63(5):1388-1395
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.
Gustavsson P; Garelli E; Draptchinskaia N; Ball S; Willig TN; Tentler D; Dianzani I; Punnett HH; Shafer FE; Cario H; Ramenghi U; Glomstein A; Pfeiffer RA; Goringe A; Olivieri NF; Smibert E; Tchernia G; Elinder G; Dahl N
Article: GENOMICS. 1998;51(1):160-161
Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia.
Ghanshani S; Coleman M; Gustavsson P; Wu AC; Gargus JJ; Gutman GA; Dahl N; Mohrenweiser H; Chandy KG
Article: JOURNAL OF MEDICAL GENETICS. 1997;34(9):779-782
Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.
Gustavsson P; Skeppner G; Johansson B; Berg T; Gordon L; Kreuger A; Dahl N
Article: NATURE GENETICS. 1997;16(4):368-371
Diamond-Blackfan anaemia: Genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb
Gustavsson P; Willig TN; vanHaeringen A; Tchernia G; Dianzani I; Donner M; Elinder G; Henter JI; Nilsson PG; Gordon L; Skeppner G; vantVeerKorthof L; Kreuger A; Dahl N
Article: NATURE GENETICS. 1997;16(3):252-255
Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21.
Nilsson M; Krejci K; Koch J; Kwiatkowski M; Gustavsson P; Landegren U
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Editorial comment: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2024;460:123020
Novel findings in a Swedish primary familial brain calcification cohort
Sennfalt S; Gustavsson P; Malmgren H; Gilland E; Almqvist H; Oscarson M; Engvall M; Bjorkhem I; Nilsson D; Lagerstedt-Robinson K; Svenningsson P; Paucar M
Meeting abstract: MECHANISMS OF DEVELOPMENT. 2009;126:S127
Identification of Lmnb1 as a possible modifier gene for neural tube defects in the mouse
Castro S; Leung K-Y; Savery D; Gustavsson P; Copp AJ; Greene NDE
Review: BIRTH DEFECTS RESEARCH. 2008;82(10):728-735
Grainyhead Genes and Mammalian Neural Tube Closure
Gustavsson P; Copp AJ; Greene NDE
Letter: CLINICAL GENETICS. 2006;69(5):441-443
Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities
Gustavsson P; Schoumans J; Staaf J; Jönsson G; Carlsson F; Kristoffersson U; Borg A; Nordenskjöld M; Dahl N
Meeting abstract: PEDIATRIC RESEARCH. 1999;45(6):941
Identification of microdeletions spanning the Diamond-Blackfan anemia (DBA) locus on 19Q13 and evidence for genetic heterogeneity
Gustavsson P; Garelli E; Draptchinskaia N; Ball S; Willing TN; Tentler D; Dianzani I; Punnett HH; Shafer FE; Cario H; Ramenghi U; Glomstein A; Pfeiffer RA; Goringe A; Olivieri NF; Smibert E; Tchernia G; Elinder G; Dahl N

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