Researcher profile · Semantic Scholar

H. Koillinen

h-index: 14
Works: 28
Citations: 930

Most-cited papers

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
M. Peyrard-Janvid, E. Leslie, Y. Kousa, Tiffany L Smith +17 more
2014American Journal of Human Genetics221 citations Open access
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Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy
O. Akinrinade, L. Ollila, Sanna Vattulainen, Jonna Tallila +9 more
2015European Heart Journal152 citations Open access
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Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia
M. Melkoniemi, H. Koillinen, M. Männikkö, M. Warman +10 more
2003European Journal of Human Genetics70 citations
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Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34
H. Koillinen, F. Wong, J. Rautio, V. Ollikainen +7 more
2001European Journal of Human Genetics69 citations Open access
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Five new cases of a recently described leukoencephalopathy with high brain lactate
T. Linnankivi, N. Lundbom, T. Autti, A. Häkkinen +7 more
2004Neurology58 citations
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Identification of novel candidate disease genes from de novo exonic copy number variants
T. Gambin, Bo Yuan, W. Bi, Peng-Fei Liu +48 more
2017Genome Medicine53 citations Open access
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Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort
J. Meester, M. Sukalo, Kim C. Schröder, D. Schanze +32 more
2018Human Mutation52 citations Open access
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Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation
L. Addis, Joo Wook Ahn, R. Dobson, A. Dixit +19 more
2015Human Mutation47 citations Open access
Semantic Scholar
Association and Mutation Analyses of the IRF6 Gene in Families with Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate
Marie Pegelow, H. Koillinen, M. Magnusson, I. Fransson +4 more
2014The Cleft Palate-Craniofacial Journal31 citations
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Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome
M. Peyrard-Janvid, Marie Pegelow, H. Koillinen, C. Larsson +6 more
2005European Journal of Human Genetics28 citations
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A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families
H. Koillinen, P. Lahermo, J. Rautio, Jyri Hukki +2 more
2005Journal of Medical Genetics27 citations Open access
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Terminal Deletion of 11q with Significant Late-Onset Combined Immune Deficiency
M. Seppänen, H. Koillinen, S. Mustjoki, Mölkänen Tomi +1 more
2013Journal of Clinical Immunology26 citations
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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
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PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
A. Kampmeier, E. Leitão, I. Parenti, J. Beygo +33 more
2023Frontiers in Cell and Developmental Biology20 citations Open access
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Genomic Strategy Identifies a Missense Mutation in WD-Repeat Domain 65 (WDR65) in an Individual with Van der Woude Syndrome
Nicholas K. Rorick, A. Kinoshita, J. Weirather, M. Peyrard-Janvid +10 more
2011American Journal of Medical Genetics. Part A14 citations Open access
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Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci
H. Koillinen, V. Ollikainen, J. Rautio, J. Hukki +1 more
2003Journal of Medical Genetics14 citations Open access
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Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome
F. Wong, H. Koillinen, J. Rautio, B. T. Teh +7 more
2001Journal of Medical Genetics11 citations Open access
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Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients
D. Osio, J. Rankin, H. Koillinen, A. Reynolds +1 more
2018American Journal of Medical Genetics. Part A4 citations
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PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome
Robbert-Jan C. A. M. Gielen, M. Reinders, H. Koillinen, A. Paulussen +2 more
2018Journal of Human Genetics4 citations Open access
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Microdeletions of ELP4 are associated with language impairment, autism spectrum disorder and epilepsy
Deb K. Pal, L. Addis, Joo Wook Ahn, R. Dobson +18 more
20154 citations
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[Mitochondrial disorder underlying headache symptoms].
H. Koillinen, S. Jääskeläinen, K. Koski
2009Duodecim lääketieteellinen aikakauskirja2 citations
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Molecular Genetics of Non-Syndromic Cleft Palate and Van Der Woude Syndrome
H. Koillinen
20032 citations
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Additional file 8: of Identification of novel candidate disease genes from de novo exonic copy number variants
T. Gambin, Bo Yuan, W. Bi, Peng-Fei Liu +48 more
20170 citations
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Three unrelated patients with 17q11.2 microdeletion sharing a similar phenotype
D. Osio, J. Rankin, H. Koillinen, A. Reynolds +1 more
20160 citations
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Targeted oligonucleotide-selective sequencing of 101 genes from 150 patients with idiopathic dilated cardiomyopathy in Finland
T. Alastalo, O. Akinrinade, L. Ollila, S. Myllykangas +5 more
20140 citations Open access
Semantic Scholar
[How to recognize neurofibromatosis?].
S. Peltonen, M. Pöyhönen, H. Koillinen, L. Valanne +1 more
2014Duodecim lääketieteellinen aikakauskirja0 citations
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Miten tunnistan neurofibromatoosin
S. Peltonen, M. Pöyhönen, H. Koillinen, Leena Valanne +1 more
20140 citations
Semantic Scholar
Terminal Deletion of 11q with Significant Late-Onset Combined Immune Deficiency
M. Seppänen, H. Koillinen, S. Mustjoki, Mölkänen Tomi +1 more
2013Journal of Clinical Immunology0 citations
Semantic Scholar

I. Fransson

×3

Marie Pegelow×3

J. Hukki×3

O. Larson×3

C. Schaaf×3

M. Dunnwald×2

M. Magnusson×2

P. Unneberg×2