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M. Hietala · SciRah

Researcher profile · Semantic Scholar

M. Hietala

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M. Hietala — researcher profile on SciRah

h-index: 23
Works: 72
Citations: 3,101

Most-cited papers

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
Ian Tomlinson, N. Alam, A. Rowan, E. Barclay +27 more
2002Nature Genetics1,438 citations
Semantic Scholar
Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology.
M. Kiuru, V. Launonen, M. Hietala, K. Aittomäki +7 more
2001American Journal of Pathology212 citations Open access
Semantic Scholar
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
J. Müller, Á. Herczegfalvi, J. Vílchez, J. Colomer +17 more
2007Brain : a journal of neurology152 citations Open access
Semantic Scholar
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
P. Krawitz, Y. Murakami, A. Riess, M. Hietala +7 more
2013American Journal of Human Genetics116 citations Open access
Semantic Scholar
What is ideal genetic counselling? A survey of current international guidelines
E. Rantanen, M. Hietala, U. Kristoffersson, I. Nippert +3 more
2008European Journal of Human Genetics96 citations
Semantic Scholar
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency
Baptiste Fouquet, P. Pawlikowska, S. Caburet, C. Guigon +13 more
2017eLife73 citations Open access
Semantic Scholar
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion
V. Juvonen, M. Hietala, Markku Päivärinta, M. Rantamaki +5 more
2000Annals of Neurology73 citations
Semantic Scholar
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
Mari Auranen, R. Vanhala, M. Vosman, M. Levander +5 more
2001Neurology72 citations
Semantic Scholar
The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population
V. Juvonen, M. Hietala, V. Kairisto, M.-L. Savontaus
2005Acta Neurologica Scandinavica69 citations
Semantic Scholar
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
U. Schara, H. Christen, H. Durmuş, M. Hietala +10 more
2010European journal of paediatric neurology58 citations Open access
Semantic Scholar
Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation
M. Martikainen, Markku Päivärinta, M. Hietala, V. Kaasinen
2015Neurology: Genetics53 citations Open access
Semantic Scholar
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia
A. Wehrle, T. Witkos, S. Unger, J. Schneider +16 more
2019JCI Insight49 citations Open access
Semantic Scholar
Services and urbanization at the turn of the century: The diffusion of innovations
M. Hietala
198747 citations
Semantic Scholar
Epidemiology of Huntington's disease in Finland.
Jussi O. T. Sipilä, M. Hietala, A. Siitonen, Markku Päivärinta +1 more
2015Parkinsonism & Related Disorders38 citations
Semantic Scholar
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene
A. Isoniemi, M. Hietala, P. Aula, A. Jalanko +1 more
1995Human Mutation35 citations
Semantic Scholar
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer
Taru A. Koski, Heli J. Lehtonen, K. Jee, S. Ninomiya +15 more
2009Genes, Chromosomes and Cancer34 citations
Semantic Scholar
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
T. Ahvenainen, Heli J. Lehtonen, Rainer Lehtonen, P. Vahteristo +18 more
2008Cancer Genetics and Cytogenetics34 citations
Semantic Scholar
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome
P. Vahteristo, Taru A. Koski, Laura Näätsaari, M. Kiuru +17 more
2010Familial Cancer31 citations
Semantic Scholar
Prospects of Carrier Screening of Aspartylglucosaminuria in Finland
M. Hietala, K. Grön, A. Syvänen, L. Peltonen +1 more
1993European Journal of Human Genetics31 citations
Semantic Scholar
A retrospective study of long‐term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria
O. Järvinen, M. Hietala, A. Aalto, M. Arvio +3 more
2000Clinical Genetics29 citations
Semantic Scholar
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives
E. Rantanen, M. Hietala, U. Kristoffersson, I. Nippert +3 more
2008European Journal of Human Genetics28 citations
Semantic Scholar
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes
J. Vos, Lisette Giepmans, C. Röhl, Nicoline Geverink +40 more
2018Familial Cancer27 citations Open access
Semantic Scholar
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin
S. Hanein, I. Perrault, P. Olsén, T. Lopponen +9 more
2002Human Mutation27 citations Open access
Semantic Scholar
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities
M. Penttinen, H. Koillinen, H. Niinikoski, O. Mäkitie +1 more
2009American Journal of Medical Genetics. Part A22 citations
Semantic Scholar
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
Pia Vuorela, M. Penttinen, M. Hietala, J. Laine +2 more
2008Clinical Dysmorphology22 citations
Semantic Scholar
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex
L. Farach, W. T. Gibson, S. Sparagana, M. Nellist +10 more
2017American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).
M. Tringham, Johanna Kurko, L. Tanner, Johannes Tuikkala +6 more
2012Molecular Genetics and Metabolism19 citations
Semantic Scholar
Ethical issues in the diagnostic genetic testing process
Tarja Nyrhinen, H. Leino-Kilpi, M. Hietala
2004New genetics and society17 citations Open access
Semantic Scholar
Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia
V. Juvonen, V. Kairisto, M. Hietala, M. Savontaus
2002Journal of Medical Genetics15 citations Open access
Semantic Scholar
Recommendations for genetic counselling related to genetic testing
H. Kääriäinen, M. Hietala, Ulf Kristoffersson, I. Nippert +3 more
15 citations
Semantic Scholar
Wilson's Disease in Finland: A Nationwide Population‐Based Study
J. Sipilä, M. Hietala, V. Kytö, V. Kaasinen
2020Movement Disorders14 citations Open access
Semantic Scholar
Food allergy in a child with de novo KAT6A mutation
V. Elenius, T. Lähdesmäki, M. Hietala, T. Jartti
2017Clinical and Translational Allergy13 citations Open access
Semantic Scholar
Ala 53 Glu is derived from a common founder in the Finnish population
P. Pasanen, E. Palin, R. Pohjolan-Pirhonen, M. Pöyhönen +14 more
201612 citations
Semantic Scholar
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation
A. Laitinen, M. Hietala, J. Haworth, Marlis L. Schroeder +3 more
1997Clinical Genetics11 citations
Semantic Scholar
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.
Katja Stange, Tino Thieme, Karen Hertel, Silke Kuhfahl +8 more
2014Journal of Molecular Biology10 citations Open access
Semantic Scholar
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.
Kjell Helenius, Liisa Ojala, L. Kainulainen, S. Peltonen +3 more
2023European Journal of Medical Genetics8 citations Open access
Semantic Scholar
Privacy and Equality in Diagnostic Genetic Testing
Tarja Nyrhinen, M. Hietala, P. Puukka, H. Leino-Kilpi
2007Nursing Ethics8 citations
Semantic Scholar
The diffusion of innovations
M. Hietala
19838 citations
Semantic Scholar
HTT haplogroups in Finnish patients with Huntington disease
S. Ylönen, Jussi O. T. Sipilä, M. Hietala, K. Majamaa
2019Neurology: Genetics7 citations Open access
Semantic Scholar
A 69‐year‐old woman with Coffin–Siris syndrome
L. Määttänen, M. Hietala, J. Ignatius, M. Arvio
2018American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
The foundation of an information city : education and culture in the development of Tampere
M. Hietala, Mervi Kaarninen
20057 citations
Semantic Scholar
Finnish Industry in Transition, 1885-1920: Responding to Technological Challenges.
M. Hietala, Timo Myllyntaus
19917 citations
Semantic Scholar
Have patients ’ opinion been asked ? A review of 102 studies from the years 1997 – 2007 on patient perspective of genetic counselling services in genetic testing situations
J. Kosonen, E. Rantanen, M. Hietala, U. Kristoffersson +3 more
20086 citations
Semantic Scholar
La diffusion des innovations : Helsinki 1875-1917
M. Hietala
19935 citations
Semantic Scholar
Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype
R. Katainen, Iikki Donner, Maritta Räisänen, D. Berta +4 more
2021Journal of Medical Genetics4 citations Open access
Semantic Scholar
Are Patient Rights to Information and Self-Determination in Diagnostic Genetic Testing Upheld? A Comparison Of Patients’ and Providers’ Perceptions
Tarja Nyrhinen, M. Hietala, P. Puukka, H. Leino-Kilpi
2009Journal of Genetic Counseling4 citations
Semantic Scholar
DIAGNOSTIC GENETIC TESTING
Tarja Nyrhinen, M. Hietala, P. Puukka, Helena Leino
20074 citations
Semantic Scholar
Cold War Cities
K. Pizzi, M. Hietala
20163 citations
Semantic Scholar
New Challenges for Urban History: Culture, Networks, Globalization
M. Hietala
20123 citations Open access
Semantic Scholar
Epilogue Cities, Competition, and Cooperation
M. Hietala
20082 citations
Semantic Scholar

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