Eva Horemuzova

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Hammarsjö A; Pettersson M; Chitayat D; Handa A; Anderlid B-M; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH-Y; 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
Article: ACTA PAEDIATRICA. 2020;109(10):2067-2074

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment.

Gkourogianni A; Andrade AC; Jonsson B-A; Segerlund E; Werner-Sperker A; Horemuzova E; Dahlgren J; Burstedt M; Nilsson O
Article: NATURE MEDICINE. 2019;25(4):583-590

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

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
Article: HUMAN MUTATION. 2018;39(10):1456-1467

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; Tham E; Horemuzova E; Voss U; Nishimura G; Klintberg B; Nordgren A; Nilsson D; Grigelioniene G; Lindstrand A
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2018;33(4):753-760

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Leal GF; Nishimura G; Voss U; Bertola DR; Åström E; Svensson J; Yamamoto GL; Hammarsjö A; Horemuzova E; Papadiogannakis N; Iwarsson E; Grigelioniene G; Tham E
Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:96

Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort.

Utriainen P; Valta H; Björnsdottir S; Mäkitie O; Horemuzova E
Article: JOURNAL OF HUMAN GENETICS. 2017;62(4):503-506

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

Wang Z; Horemuzova E; Iida A; Guo L; Liu Y; Matsumoto N; Nishimura G; Nordgren A; Miyake N; Tham E; Grigelioniene G; Ikegawa S
Article: SKELETAL RADIOLOGY. 2016;45(11):1557-1560

Autosomal recessive brachyolmia: early radiological findings.

Handa A; Tham E; Wang Z; Horemuzova E; Grigelioniene G
Article: CLINICAL GENETICS. 2015;87(3):273-278

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).

Mäkitie O; Geiberger S; Horemuzova E; Hagenäs L; Moström E; Nordenskjöld M; Grigelioniene G; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164A(7):1635-1641

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Grigelioniene G; Geiberger S; Horemuzova E; Moström E; Jäntti N; Neumeyer L; Åström E; Nordenskjöld M; Nordgren A; Mäkitie O
Article: ACTA PAEDIATRICA. 2014;103(1):38-47

Growth charts and long-term sequelae in extreme preterm infants--from full-term age to 10 years.

Horemuzova E; Amark P; Jacobson L; Söder O; Hagenäs L
Article: HUMAN MUTATION. 2013;34(10):1381-1386

Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.

Iida A; Simsek-Kiper PÖ; Mizumoto S; Hoshino T; Elcioglu N; Horemuzova E; Geiberger S; Yesil G; Kayserili H; Utine GE; Boduroglu K; Watanabe S; Ohashi H; Alanay Y; Sugahara K; Nishimura G; Ikegawa S
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;92(6):990-995

FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Unger S; Górna MW; Le Béchec A; Do Vale-Pereira S; Bedeschi MF; Geiberger S; Grigelioniene G; Horemuzova E; Lalatta F; Lausch E; Magnani C; Nampoothiri S; Nishimura G; Petrella D; Rojas-Ringeling F; Utsunomiya A; Zabel B; Pradervand S; Harshman K; Campos-Xavier B; Bonafé L; Superti-Furga G; Stevenson B; Superti-Furga A
Article: ACTA PAEDIATRICA. 2012;101(3):292-299

Growth charts for monitoring postnatal growth at NICU of extreme preterm-born infants.

Horemuzova E; Söder O; Hagenäs L
Article: ACTA PAEDIATRICA. 2009;98(2):261-265

Visual impairment is common in children born before 25 gestational weeks--boys are more vulnerable than girls.

Jacobson L; Hård A-L; Horemuzova E; Hammarén H; Hellström A
Article: ACTA PAEDIATRICA. 2002;91(3):280-286

Increased inspiratory effort in infants with a history of apparent life-threatening event.

Horemuzova E; Katz-Salamon M; Milerad J
Article: ACTA PAEDIATRICA. 2000;89(11):1284-1289

Breathing patterns, oxygen and carbon dioxide levels in sleeping healthy infants during the first nine months after birth.

Horemuzova E; Katz-Salamon M; Milerad J

Alla övriga publikationer

Letter: CLINICAL GENETICS. 2015;87(5):496-498

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.

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
KI thesis / dissertation: 2013

Growth and morbidity in extreme preterm born infants

Horemuzova, Eva

Anställningar

Anknuten till Forskning, Molekylär medicin och kirurgi, Karolinska Institutet, 2021-2024

Examina och utbildning

Medicine Doktorsexamen, Institutionen för kvinnors och barns hälsa, Karolinska Institutet, 2013

Artiklar

Alla övriga publikationer

Anställningar

Examina och utbildning

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