Publications for Anna Lindstrand

Article

1 Ten Berk de Boer E, Ameur A, Bunikis I, Ek M, Stattin EL, Feuk L, Eisfeldt J, Lindstrand A. Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation. Scientific reports 2024 14:1 9000-
2 Pechhacker MKG, Molnar A, Pacheco NP, Thonberg H, Querat L, Birkeldh U, Nordgren A, Lindstrand A. Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1. OPHTHALMIC GENETICS 2024 45:1 95-102

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3 Westenius E, Conner P, Pettersson M, Sahlin E, Papadogiannakis N, Lindstrand A, Iwarsson E. Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2024 :
4 Batkovskyte D, McKenzie F, Taylan F, Simsek-Kiper PO, Nikkel SM, Ohashi H, Stevenson RE, Ha T, Cavalcanti DP, Miyahara H, Skinner SA, Aguirre MA, Akçören Z, Utine GE, Chiu T, Shimizu K, Hammarsjö A, Boduroglu K, Moore HW, Louie RJ, Arts P, Merrihew AN, Babic M, Jackson MR, Papadogiannakis N, Lindstrand A, Nordgren A, Barnett CP, Scott HS, Chagin AS, Nishimura G, Grigelioniene G. Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2023 38:5 692-706

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5 Aranda-Guillén M, Røyrvik EC, Fletcher-Sandersjöö S, Artaza H, Botusan IR, Grytaas MA, Hallgren Å, Breivik L, Pettersson M, Jørgensen AP, Lindstrand A, Vogt E, Husebye ES, Kämpe O, Wolff ASB, Bensing S, Johansson S, Eriksson D, Norwegian Addison Registry Study Group The Swedish Addison Registry Study Group. A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies. Journal of internal medicine 2023 294:1 96-109

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6 Flores AG, Nordgren I, Pettersson M, Dias-Santagata D, Nilsson D, Hammarsjo A, Lindstrand A, Batkovskyte D, Wiggs J, Walton DS, Goldenberg P, Eisfeldt J, Lin AE, Lachman RS, Nishimura G, Grigelioniene G. Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome. FRONTIERS IN GENETICS 2023 14: 1174046-

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7 Pacheco NP, Pettersson M, Lindstrand A, Grigelioniene G. Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2023 191:7 1929-1934

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8 Ek M, Nilsson D, Engvall M, Malmgren H, Thonberg H, Pettersson M, Anderlid BM, Hammarsjo A, Helgadottir HT, Arnardottir S, Naess K, Nennesmo I, Paucar M, Hjartarson HT, Press R, Solders G, Sejersen T, Lindstrand A, Kvarnung M. Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders. FRONTIERS IN NEUROLOGY 2023 14: 1170005-

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9 Vaz R, Edwards S, Duenas-Rey A, Hofmeister W, Lindstrand A. Loss of ctnnd2b affects neuronal differentiation and behavior in zebrafish. FRONTIERS IN NEUROSCIENCE 2023 17: 1205653-

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10 Nordgren A, Lindstrand A, Wu HY, Fossum M. Precision medicine and rare diseases in pediatric urology. Journal of pediatric urology 2023 19:3 335-338

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11 Runheim H, Pettersson M, Hammarsjö A, Nordgren A, Henriksson M, Lindstrand A, Levin LÅ, Soller MJ. The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders. Scientific reports 2023 13:1 6904-

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12 Bilgrav Saether K, Nilsson D, Thonberg H, Tham E, Ameur A, Eisfeldt J, Lindstrand A. Transposable element insertions in 1000 Swedish individuals. PloS one 2023 18:7 e0289346-

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13 De Geer K, Mascianica K, Naess K, Sardh E, Lindstrand A, Björck E. Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report. BMC ophthalmology 2023 23:1 394-

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14 Vaz R, Wincent J, Elfissi N, Forsblad KR, Pettersson M, Naess K, Wedell A, Wredenberg A, Lindstrand A, Ygberg S. A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy. BIOMEDICINES 2022 10:12

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15 Frisk S, Wachtmeister A, Laurell T, Lindstrand A, Jäntti N, Malmgren H, Lagerstedt-Robinson K, Tesi B, Taylan F, Nordgren A. Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants. Molecular genetics & genomic medicine 2022 10:4 e1880-

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16 Westenius E, Sahlin E, Conner P, Lindstrand A, Iwarsson E. Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2022 60:4 487-493

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17 Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, Lieden A, Lindelöf H, Malmgren H, Nilsson D, Svensson E, Paucar M, Sahlin E, Tesi B, Tham E, Winberg J, Winerdal M, Wincent J, Johansson Soller M, Pettersson M, Nordgren A. Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. Genetics in medicine : official journal of the American College of Medical Genetics 2022 24:11 2296-2307

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18 Peña-Pérez L, Frengen N, Hauenstein J, Gran C, Gustafsson C, Eisfeldt J, Kierczak M, Taborsak-Lines F, Olsen RA, Wallblom A, Krstic A, Ewels P, Lindstrand A, Månsson R. Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma. Blood advances 2022 6:17 5009-5023

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19 Eisfeldt J, Schuy J, Stattin EL, Kvarnung M, Falk A, Feuk L, Lindstrand A. Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis. International journal of molecular sciences 2022 23:16

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20 Eisfeldt J, Rezayee F, Pettersson M, Lagerstedt K, Malmgren H, Falk A, Grigelioniene G, Lindstrand A. Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation. Human mutation 2022 43:11 1567-1575

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21 Rasi C, Nilsson D, Magnusson M, Lesko N, Lagerstedt-Robinson K, Wedell A, Lindstrand A, Wirta V, Stranneheim H. PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network. Human mutation 2022 43:6 708-716

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22 Loid P, Pekkinen M, Mustila T, Tossavainen P, Viljakainen H, Lindstrand A, Mäkitie O. Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity. Frontiers in genetics 2022 13: 839349-

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23 Ygberg S, Akkuratov EE, Howard RJ, Taylan F, Jans DC, Mahato DR, Katz A, Kinoshita PF, Portal B, Nennesmo I, Lindskog M, Karlish SJD, Andersson M, Lindstrand A, Brismar H, Aperia A. A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy. The Journal of biological chemistry 2021 297:6 101355-

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24 de Boer E, Ockeloen CW, Matalonga L, Horvath R, Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I, Trimouille A, Kleefstra T, Verloes A, Vissers LELM, Solve-RD SNV-indel working group, Solve-RD-DITF-ITHACA. A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. European journal of human genetics : EJHG 2021 29:9 1359-1368

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25 Grochowski CM, Krepischi ACV, Eisfeldt J, Du H, Bertola DR, Oliveira D, Costa SS, Lupski JR, Lindstrand A, Carvalho CMB. Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. Frontiers in genetics 2021 12: 708348-

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26 Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. DLG4-related synaptopathy: a new rare brain disorder. Genetics in medicine : official journal of the American College of Medical Genetics 2021 23:5 888-899

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27 Hammarsjö A, Pettersson M, Chitayat D, Handa A, Anderlid BM, Bartocci M, Basel D, Batkovskyte D, Beleza-Meireles A, Conner P, Eisfeldt J, Girisha KM, Chung BH, Horemuzova E, Hyodo H, Korņejeva L, Lagerstedt-Robinson K, Lin AE, Magnusson M, Moosa S, Nayak SS, Nilsson D, Ohashi H, Ohashi-Fukuda N, Stranneheim H, Taylan F, Traberg R, Voss U, Wirta V, Nordgren A, Nishimura G, Lindstrand A, Grigelioniene G. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. Journal of human genetics 2021 66:10 995-1008

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28 Eisfeldt J, Pettersson M, Petri A, Nilsson D, Feuk L, Lindstrand A. Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier. HUMAN GENETICS 2021 140:5 775-790

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29 Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome medicine 2021 13:1 40-

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30 Zhang CF, Mazzeu JF, Eisfeldt J, Grochowski CM, White J, Akdemir ZC, Jhangiani SN, Muzny DM, Gibbs RA, Lindstrand A, Lupski JR, Sutton VR, Carvalho CMB. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2021 185:12 3593-3600

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31 Schuy J, Eisfeldt J, Pettersson M, Shahrokhshahi N, Moslem M, Nilsson D, Dahl N, Shahsavani M, Falk A, Lindstrand A. Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model. Frontiers in genetics 2021 12: 803683-

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32 Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, Earl RK, Nowakowski T, Bernier RA, Eichler EE, SPARK Consortium, CAUSES Study. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome medicine 2021 13:1 63-

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33 Matalonga L, Hernández-Ferrer C, Piscia D, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S, Solve-RD Consortia, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD DITF-RND, Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. European journal of human genetics : EJHG 2021 29:9 1337-1347

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34 Johansson Soller M, Nordgren A, Ehrencrona H, Lovmar L, Wedell A, Lindstrand A. [The utility of whole genome sequencing in rare disease diagnostics]. Lakartidningen 2021 118:
35 Pettersson M, Grochowski CM, Wincent J, Eisfeldt J, Breman AM, Cheung SW, Krepischi ACV, Rosenberg C, Lupski JR, Ottosson J, Lovmar L, Gacic J, Lundberg ES, Nilsson D, Carvalho CMB, Lindstrand A. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Human mutation 2020 41:11 1979-1998

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36 Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A. Discovery of Novel Sequences in 1,000 Swedish Genomes. Molecular biology and evolution 2020 37:1 18-30

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37 Fahnehjelm C, Dahl S, Skriapa Manta A, Lindstrand A, Wickström R, Fahnehjelm K. [Important to evaluate children with visual impairment]. Lakartidningen 2020 117:
38 Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF, Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE, SPARK Consortium. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 2020 11:1 4932-

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39 Magnusson M, Eisfeldt J, Nilsson D, Rosenbaum A, Wirta V, Lindstrand A, Wedell A, Stranneheim H. Loqusdb: added value of an observations database of local genomic variation. BMC bioinformatics 2020 21:1 273-

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40 Norling A, Lindstrand A, Hirschberg A. [Premature ovarian insufficiency - patients are underdiagnosed and undertreated]. Lakartidningen 2020 117:
41 Bieder A, Einarsdottir E, Matsson H, Nilsson HE, Eisfeldt J, Dragomir A, Paucar M, Granberg T, Li TQ, Lindstrand A, Kere J, Tapia-Paez I. Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report. BMC MEDICAL GENETICS 2020 21:1 87-

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42 Plesser Duvdevani M, Pettersson M, Eisfeldt J, Avraham O, Dagan J, Frumkin A, Lupski JR, Lindstrand A, Harel T. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. American journal of medical genetics. Part A 2020 182:5 1143-1151

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43 Dahl S, Pettersson M, Eisfeldt J, Schröder AK, Wickström R, Teär Fahnehjelm K, Anderlid BM, Lindstrand A. Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. PloS one 2020 15:2 e0228622-

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44 Kvarnung M, Shahsavani M, Taylan F, Moslem M, Breeuwsma N, Laan L, Schuster J, Jin Z, Nilsson D, Lieden A, Anderlid BM, Nordenskjold M, Lundberg ES, Birnir B, Dahl N, Nordgren A, Lindstrand A, Falk A. Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186. FRONTIERS IN GENETICS 2019 10: 896-

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45 Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF, ADNP Consortium. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. Biological psychiatry 2019 85:4 287-297

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46 Eisfeldt J, Pettersson M, Vezzi F, Wincent J, Käller M, Gruselius J, Nilsson D, Syk Lundberg E, Carvalho CMB, Lindstrand A. Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. PLoS genetics 2019 15:2 e1007858-

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47 Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Science advances 2019 5:9 eaax2166-

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48 Frisk S, Taylan F, Blaszczyk I, Nennesmo I, Annerén G, Herm B, Stattin EL, Zachariadis V, Lindstrand A, Tesi B, Laurell T, Nordgren A. Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth. Clinical genetics 2019 96:2 118-125

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49 Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, 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. 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. GENOME MEDICINE 2019 11:1 68-

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50 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. Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene. Molecular genetics & genomic medicine 2019 7:6 e666-

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51 Grigelioniene G, Suzuki HI, Taylan F, Mirzamohammadi F, Borochowitz ZU, Ayturk UM, Tzur S, Horemuzova E, Lindstrand A, Weis MA, Grigelionis G, Hammarsjö A, Marsk E, Nordgren A, Nordenskjöld M, Eyre DR, Warman ML, Nishimura G, Sharp PA, Kobayashi T. Gain-of-function mutation of microRNA-140 in human skeletal dysplasia. Nature medicine 2019 25:4 583-590

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52 Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM. Meckel syndrome: Clinical and mutation profile in six fetuses. CLINICAL GENETICS 2019 96:6 560-565

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53 Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM, Deciphering Developmental Disorders study, CAUSES Study. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. American journal of human genetics 2019 104:3 530-541

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54 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. Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Molecular genetics & genomic medicine 2019 7:3 e549-

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55 Kiselev A, Vaz R, Knyazeva A, Sergushichev A, Dmitrieva R, Khudiakov A, Jorholt J, Smolina N, Sukhareva K, Fomicheva Y, Mikhaylov E, Mitrofanova L, Predeusu A, Sjoberg G, Rudenko D, Sejersen T, Lindstrand A, Kostareva A. Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy. FRONTIERS IN GENETICS 2019 10: 608-

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56 Pettersson M, Vaz R, Hammarsjö A, Eisfeldt J, Carvalho CMB, Hofmeister W, Tham E, Horemuzova E, Voss U, Nishimura G, Klintberg B, Nordgren A, Nilsson D, Grigelioniene G, Lindstrand A. Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Human mutation 2018 39:10 1456-1467

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57 Eisfeldt J, Nilsson D, Andersson-Assarsson JC, Lindstrand A. AMYCNE: Confident copy number assessment using whole genome sequencing data. PloS one 2018 13:3 e0189710-

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58 Kiselev A, Vaz R, Knyazeva A, Khudiakov A, Tarnovskaya S, Liu J, Sergushichev A, Kazakov S, Frishman D, Smolina N, Pervunina T, Jorholt J, Sjoberg G, Vershinina T, Rudenko D, Arner A, Sejersen T, Lindstrand A, Kostareva A. De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. Human mutation 2018 39:9 1161-1172

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59 Pettersson M, Eisfeldt J, Syk Lundberg E, Lundin J, Lindstrand A. Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis. Mutation research 2018 812: 1-4

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60 Tran AN, Taylan F, Zachariadis V, Ivanov Öfverholm I, Lindstrand A, Vezzi F, Lötstedt B, Nordenskjöld M, Nordgren A, Nilsson D, Barbany G. High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing. PloS one 2018 13:3 e0193928-

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61 Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Human mutation 2018 39:7 939-946

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62 Costantini A, Skarp S, Kampe A, Makitie RE, Pettersson M, Mannikko M, Jiao H, Taylan F, Lindstrand A, Makitie O. Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility. FRONTIERS IN ENDOCRINOLOGY 2018 9: 380-

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63 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. Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. PLoS genetics 2018 14:11 e1007780-

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

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65 Grigelioniene G, Nevalainen PI, Reyes M, Thiele S, Tafaj O, Molinaro A, Takatani R, Ala-Houhala M, Nilsson D, Eisfeldt J, Lindstrand A, Kottler ML, Mäkitie O, Jüppner H. A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017 32:4 776-783

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66 Pettersson M, Viljakainen H, Loid P, Mustila T, Pekkinen M, Armenio M, Andersson-Assarsson JC, Mäkitie O, Lindstrand A. Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways. The Journal of clinical endocrinology and metabolism 2017 102:8 3029-3039

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

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68 Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nature neuroscience 2017 20:8 1043-1051

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69 Bramswig NC, Lüdecke HJ, Pettersson M, Albrecht B, Bernier RA, Cremer K, Eichler EE, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, Surowy HM, de Vries BB, Wieland T, Engels H, Strom TM, Kleefstra T, Wieczorek D. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Human genetics 2017 136:2 179-192

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70 Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S. Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. Scientific reports 2017 7:1 15585-

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71 Kämpe AJ, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F, Lindstrand A, Paschalis EP, Gamsjaeger S, Raas-Rothschild A, Hövel M, Jiao H, Klaushofer K, Grasemann C, Mäkitie O. PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017 32:12 2394-2404

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72 Stessman HAF, Xiong B, Coe BP, Wang TY, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjold M, Schenck A, Bernier RA, Eichler EE. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. NATURE GENETICS 2017 49:4 515-526

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73 Eisfeldt J, Vezzi F, Olason P, Nilsson D, Lindstrand A. TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data. F1000Research 2017 6: 664-
74 Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Mäkitie O, Wirta V, Käller M, Vezzi F, Lupski JR, Nordenskjöld M, Lundberg ES, Carvalho CMB, Lindstrand A. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Human mutation 2017 38:2 180-192

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75 Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. European journal of human genetics : EJHG 2016 24:2 198-207

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76 Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics 2016 99:2 318-36

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77 Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM, Byers PH, Zschocke J, Molecular Basis of Periodontal EDS Consortium. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. American journal of human genetics 2016 99:5 1005-1014

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78 Hofmeister W, Nilsson D, Topa A, Anderlid BM, Darki F, Matsson H, Tapia Páez I, Klingberg T, Samuelsson L, Wirta V, Vezzi F, Kere J, Nordenskjöld M, Syk Lundberg E, Lindstrand A. CTNND2-a candidate gene for reading problems and mild intellectual disability. Journal of medical genetics 2015 52:2 111-22

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79 Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. American journal of human genetics 2015 96:3 507-13

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80 Viljakainen H, Andersson-Assarsson JC, Armenio M, Pekkinen M, Pettersson M, Valta H, Lipsanen-Nyman M, Mäkitie O, Lindstrand A. Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland. PloS one 2015 10:7 e0131883-

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81 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. WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish. Human molecular genetics 2015 24:18 5069-78

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82 Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. Journal of medical genetics 2014 51:1 45-54

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83 Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A. Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. Molecular genetics & genomic medicine 2014 2:5 402-11
84 Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. American journal of human genetics 2014 94:5 745-54

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85 Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stödberg T, Mäkitie O, Anderlid BM, Bryceson YT, Nordenskjöld M, Nordgren A. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. Journal of medical genetics 2013 50:8 521-8

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86 Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu XQ, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CMB, Pehlivan D, Werner C, Raidt J, Kohler G, Haffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omranl H. ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry. AMERICAN JOURNAL OF HUMAN GENETICS 2013 93:2 357-67

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87 Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou WB, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJF, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren HN, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EYHP, Wang SH, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F. Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling. CELL 2012 150:3 533-48

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88 Kvarnung M, Lindstrand A, Malmgren H, Thåström A, Jacobson L, Dahl N, Lundin J, Blennow E. Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype. American journal of medical genetics. Part A 2012 158A:5 1111-7

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89 Lindstrand A, Malmgren H, Sahlen S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E. Detailed molecular and clinical characterization of three patients with 21q deletions. CLINICAL GENETICS 2010 77:2 145-54

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90 Bruno DL, Anderlid BM, 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, Borgstrom B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BBA, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. JOURNAL OF MEDICAL GENETICS 2010 47:5 299-311

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

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92 Lindstrand A, Malmgren H, Verri A, Benetti E, Eriksson M, Nordgren A, Anderlid BM, Golovleva I, Schoumans J, Blennow E. Molecular and Clinical Characterization of Patients With Overlapping 10p Deletions. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2010 152A:5 1233-43

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Letter

1 Fioretos T, Wirta V, Cavelier L, Berglund E, Friedman M, Akhras M, Botling J, Ehrencrona H, Engstrand L, Helenius G, Fagerqvist T, Gisselsson D, Gruvberger-Saal S, Gyllensten U, Heidenblad M, Höglund K, Jacobsson B, Johansson M, Johansson Å, Soller MJ, Landström M, Larsson P, Levin LÅ, Lindstrand A, Lovmar L, Lyander A, Melin M, Nordgren A, Nordmark G, Mölling P, Palmqvist L, Palmqvist R, Repsilber D, Sikora P, Stenmark B, Söderkvist P, Stranneheim H, Strid T, Wheelock CE, Wadelius M, Wedell A, Edsjö A, Rosenquist R. Implementing precision medicine in a regionally organized healthcare system in Sweden. Nature medicine 2022 28:10 1980-1982

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2 Westenius E, Sahlin E, Conner P, Lindstrand A, Iwarsson E. Prenatal diagnosis of non-immune hydrops fetalis: whole-exome sequencing or whole-genome sequencing?. ULTRASOUND IN OBSTETRICS & GYNECOLOGY 2022 60:4 585-586

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3 Westenius E, Sahlin E, Conner P, Lindstrand A, Iwarsson E. Prenatal diagnosis of non-immune hydrops fetalis: whole-exome sequencing or whole-genome sequencing? Reply. ULTRASOUND IN OBSTETRICS & GYNECOLOGY 2022 60:4 586-

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4 Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G. Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia. Clinical genetics 2015 87:5 496-8

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

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