O
Outi Kuismin
Researcher at Oulu University Hospital
Publications - 8
Citations - 236
Outi Kuismin is an academic researcher from Oulu University Hospital. The author has contributed to research in topics: Exome sequencing & Compound heterozygosity. The author has an hindex of 5, co-authored 8 publications receiving 154 citations. Previous affiliations of Outi Kuismin include University of Oulu & University of Helsinki.
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Journal ArticleDOI
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Vandana Shashi,Loren D M Pena,Katherine H. Kim,Barbara K. Burton,Maja Hempel,Kelly Schoch,Magdalena Walkiewicz,Heather M. McLaughlin,M. T. Cho,Nicholas Stong,Scott E. Hickey,Christine M. Shuss,A. Bacino,Brendan Lee,Ashok Balasubramanyam,Lindsay C. Burrage,Gary D. Clark,William J. Craigen,Shweta U. Dhar,Lisa Emrick,Brett H. Graham,Mahim Jain,Seema R. Lalani,Richard Alan Lewis,Paolo M. Moretti,Sarah K. Nicholas,Jordan S. Orange,Jennifer E. Posey,Lorraine Potocki,Jill A. Rosenfeld,Daryl A. Scott,Neil A. Hanchard,Tran A. Alyssa,Alejandro E. Mercedes,Azamian S. Mashid,Hugo J. Bellen,Shinya Yamamoto,Michael F. Wangler,Monte Westerfield,John H. Postlethwait,Christine M. Eng,Yaping Yang,Donna Muzny,Patricia A. Ward,Rachel Ramoni,Alexa T. McCray,Issac S. Kohane,Ingrid A. Holm,Matthew Might,Paul Mazur,Kimberly Splinter,Cecilia Esteves,Yong-hui Jiang,Allyn McConkie-Rosell,Rebecca C. Spillmann,Jennifer A. Sullivan,Nicole M. Walley,David Goldstein,Alan H. Beggs,Joseph Loscalzo,Calum A. MacRae,Edwin K. Silverman,Joan M. Stoler,David A. Sweetser,Richard L. Maas,Joel B. Krier,Lance H. Rodan,Chris A. Walsh,Cynthia M. Cooper,Juan C. Pallais,Laurel A. Donnell-Fink,Elizabeth L. Krieg,Sharyn A. Lincoln,Lauren C. Briere,Howard J. Jacob,Elizabeth A. Worthey,Joe Lazar,Kim A. Strong,Lori H. Handley,J. Scott Newberry,David P. Bick,Molly C. Schroeder,Donna M. Brown,Camille L. Birch,Shawn Levy,Braden E. Boone,Dan C. Dorset,Angela L. Jones,Teri A. Manolio,John J. Mulvihill,Anastasia L. Wise,Jyoti G. Dayal,David J. Eckstein,Donna M. Krasnewich,Carson R. Loomis,Laura A. Mamounas,Brenda Iglesias,Casey Martin,David M. Koeller,Thomas O. Metz,Euan A. Ashley,Paul G. Fisher,Jonathan A. Bernstein,Matthew T. Wheeler,Patricia A. Zornio,Daryl Waggott,Annika M. Dries,Jennefer N. Kohler,Katrina M. Dipple,Stan F. Nelson,Christina G.S. Palmer,Eric Vilain,Patrick Allard,Esteban C. Dell Angelica,Hane Lee,Janet S. Sinsheimer,Jeanette C. Papp,Naghmeh Dorrani,Matthew R. Herzog,Hayk Barseghyan,David R. Adams,Christopher J. Adams,Elizabeth A. Burke,Katherine R. Chao,Mariska Davids,David D. Draper,Tyra Estwick,Trevor S. Frisby,Kate Frost,William A. Gahl,Valerie Gartner,Rena A. Godfrey,Mitchell Goheen,Gretchen Golas,Mary “Gracie” G. Gordon,Catherine Groden,Andrea L. Gropman,Mary E. Hackbarth,Isabel Hardee,Jean M. Johnston,Alanna E. Koehler,Lea Latham,Yvonne L. Latour,Chyau Yueh C Lau,Paul R. Lee,Denise J. Levy,Adam P. Liebendorder,Ellen Macnamara,Valerie Maduro,May V. Malicdan,Thomas C. Markello,Alexandra J. McCarty,Jennifer L. Murphy,Michele Nehrebecky,Donna Novacic,Barbara N. Pusey,Sarah Sadozai,Katherine E. Schaffer,Prashant Sharma,Ariane Soldatos,Sara P. Thomas,Cynthia J. Tifft,Nathanial J. Tolman,Camilo Toro,Zaheer M. Valivullah,Colleen E. Wahl,Mike Warburton,Alec A. Weech,Lynne A. Wolfe,Guoyun Yu,Rizwan Hamid,John H. Newman,John A. Phillips,Joy D. Cogan,Michael Freemark,Jane S. Bellet,Martha Ann Keels,Melanie J. Bonner,Maysantoine A. El-Dairi,Megan W. Butler,Peter G. Kranz,Constance T. R. M. Stumpel,Sylvia Klinkenberg,Karin Oberndorff,Malik Alawi,Malik Alawi,René Santer,Slavé Petrovski,Slavé Petrovski,Outi Kuismin,Outi Kuismin,Satu Korpi-Heikkila,Olli Pietilainen,Olli Pietilainen,Palotie Aarno,Mitja I. Kurki,Mitja I. Kurki,Alexander Hoischen,Anna C. Need,Fanny Kortüm +199 more
TL;DR: De novo truncating variants in ASXL2 underlie a neurodevelopmental syndrome with a clinically recognizable phenotype and the germline disorders that are linked to the ASXL genes are expanded.
Journal ArticleDOI
Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.
Eevi Kaasinen,Outi Kuismin,Outi Kuismin,Kristiina Rajamäki,Heikki Ristolainen,Mervi Aavikko,Johanna Kondelin,Silva Saarinen,Davide G. Berta,Riku Katainen,Elina A. M. Hirvonen,Auli Karhu,Aurora Taira,Tomas Tanskanen,Amjad Alkodsi,Minna Taipale,Ekaterina Morgunova,Kaarle Franssila,Rainer Lehtonen,Markus J. Mäkinen,Kristiina Aittomäki,Aarno Palotie,Aarno Palotie,Aarno Palotie,Mitja I. Kurki,Olli Pietilainen,Morgane Hilpert,Elmo Saarentaus,Jaakko Niinimäki,Jaakko Niinimäki,Juhani Junttila,Kari Kaikkonen,Pia Vahteristo,Radek C. Skoda,Mikko Seppänen,Kari K. Eklund,Jussi Taipale,Jussi Taipale,Outi Kilpivaara,Lauri A. Aaltonen,Lauri A. Aaltonen +40 more
TL;DR: Findings provide insight into the interplay between epigenetic modulators and transcription factor activity in hematological neoplasia, but do not confirm the putative role of TET2 in atherosclerosis.
Journal ArticleDOI
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Mikko Muona,Ryosuke Ishimura,Ryosuke Ishimura,Anni Laari,Yoshinobu Ichimura,Tarja Linnankivi,Riikka Keski-Filppula,Riikka Keski-Filppula,Riitta Herva,Heikki Rantala,Heikki Rantala,Anders Paetau,Minna Pöyhönen,Miki Obata,Takefumi Uemura,Thomas Karhu,Norihisa Bizen,Hirohide Takebayashi,Shane McKee,Michael Parker,Nadia Akawi,Jeremy F. McRae,Matthew E. Hurles,Outi Kuismin,Outi Kuismin,Mitja I. Kurki,Anna-Kaisa Anttonen,Keiji Tanaka,Aarno Palotie,Satoshi Waguri,Anna-Elina Lehesjoki,Masaaki Komatsu +31 more
TL;DR: Exome sequencing in Finnish individuals with severe epileptic syndromes and cellular analyses imply that the combination of a hypomorphic p.Ala371Thr variant in trans with a loss-of-function allele in UBA5 underlies a severe infantile-onset encephalopathy, suggesting that the UFM1 system is essential for CNS development and function.
Journal ArticleDOI
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Elisa Rahikkala,Matti Myllykoski,Reetta Hinttala,Reetta Hinttala,Päivi Vieira,Naemeh Nayebzadeh,Naemeh Nayebzadeh,Simone Weiss,Astrid S Plomp,Reginald E. Bittner,Mitja I. Kurki,Mitja I. Kurki,Mitja I. Kurki,Outi Kuismin,Outi Kuismin,Andrea M. Lewis,Andrea M. Lewis,Marja-Leena Väisänen,Hannaleena Kokkonen,Jonne Westermann,G. Bernert,Hannu Tuominen,Aarno Palotie,Lauri A. Aaltonen,Yaping Yang,Yaping Yang,Lorraine Potocki,Lorraine Potocki,Jukka S. Moilanen,Silvana van Koningsbruggen,Xia Wang,Xia Wang,Wolfgang M. Schmidt,Peppi Koivunen,Johanna Uusimaa,Johanna Uusimaa +35 more
TL;DR: Biallelic loss-of-function P4HTM variants were shown to cause HIDEA syndrome, and the findings enable diagnosis of the condition, and highlight the importance of assessing the need for noninvasive ventilatory support in patients.
Journal ArticleDOI
A nearly fatal primary Epstein-Barr virus infection associated with low NK-cell counts in a patient receiving azathioprine: a case report and review of literature.
Minna Honkila,Minna Honkila,Riitta Niinimäki,Riitta Niinimäki,Mervi Taskinen,Outi Kuismin,Outi Kuismin,Kaisa Kettunen,Janna Saarela,Sami Turunen,Marjo Renko,Marjo Renko,Terhi Tapiainen,Terhi Tapiainen +13 more
TL;DR: This case demonstrates that slow recovery from azathioprine-induced natural killer cell depletion, 3 months after the stopping of azathoprine, coincided with the clearance of viremia and clinical recovery, and the choice of treating the patient with rituximab appeared to be successful in this case.