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Issue Date	Title	Author(s)
2010	A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.	Reeuwijk, J. van; Olderode-Berends, M.J.; Elzen, C. van den; Brouwer, O.F.; Roscioli, T.; Pampus, M.G. van; Scheffer, H.; Brunner, H.G.; Bokhoven, J.H.L.M. van; Hol, F.A.
2010	Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1	Hogewind, B.F.T.; Pennings, R.J.E.; Hol, F.A.; Kunst, H.P.M.; Hoefsloot, E.H.; Cruysberg, J.R.M.; Cremers, C.W.R.J.
2008	Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection.	Kovel, C.G. de; Franke, B.; Hol, F.A.; Lebrec, J.J.; Maassen, B.A.M.; Brunner, H.G.; Padberg, G.W.; Platko, J.; Pauls, D.
2008	[Sudden blindness: consider Leber's hereditary optic neuropathy]	Schieving, J.H.; Vries, L.B.A. de; Hol, F.A.; Stroink, H.
2008	Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.	Janssen, A.J.; Schuelke, M.; Smeitink, J.A.M.; Trijbels, F.J.; Sengers, R.C.; Lucke, B.; Wintjes, L.T.; Morava, E.; Engelen, B.G.M. van; Smits, B.W.; Hol, F.A.; Siers, M.H.; Laak, H. ter; Knaap, M.S. van der; Spronsen, F.J. van; Rodenburg, R.J.; Heuvel, L.P.v.d.
2008	Genotype-phenotype correlations in MYCN-related Feingold syndrome.	Marcelis, C.L.; Hol, F.A.; Graham, G.E.; Rieu, P.N.M.A.; Kellermayer, R.; Meijer, R.P.; Lugtenberg, D.; Scheffer, H.; Bokhoven, J.H.L.M. van; Brunner, H.G.; Brouwer, A.P.M. de
2008	A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.	Jonckheere, A.I.; Hogeveen, M.; Nijtmans, L.G.J.; Brand, M.A.M. van den; Janssen, A.J.M.; Diepstra, J.H.S.; Brandt, FC van den; Heuvel, L.P.W.J. van den; Hol, F.A.; Hofste, T.G.; Kapusta, L.; Dillmann, U.; Shamdeen, M.G.; Smeitink, J.A.M.; Rodenburg, R.J.T.
2007	Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle.	Smits, B.W.; Hol, F.A.; Heuvel, L.P.W.J. van den; Drost, G.; Rodenburg, R.J.T.; Laak, H.J. ter; Engelen, B.G.M. van
2007	Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.	Glind, G. van de; Vries, M. de; Rodenburg, R.J.T.; Hol, F.A.; Smeitink, J.A.M.; Morava, E.
2007	Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.	Verbeek, M.M.; Steenbergen-Spanjers, G.C.H.; Willemsen, M.A.A.P.; Hol, F.A.; Smeitink, J.A.M.; Seeger, J.; Grattan-Smith, P.J.; Ryan, M.M.; Hoffmann, G.F.; Donati, M.A.; Blau, N.; Wevers, R.A.
2007	The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.	Ruiter, E.M.; Siers, M.H.; Elzen, C. van der; Engelen, B.G.M. van; Smeitink, J.A.M.; Rodenburg, R.J.T.; Hol, F.A.
2007	Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.	Berg, K. ten; Hasselt, P.M. van; Eleveld, M.J.; Wijst, S.E. van der; Hol, F.A.; Vroede, M.A. de; Beemer, F.A.; Hochstenbach, P.F.R.; Poot, M.
2006	Hyperimmunoglobulinaemia D syndrome in India: report of two siblings with a novel mutation.	Lawrence, A.; Hol, F.A.; Aggarwal, A.; Drenth, J.P.H.
2006	Mitochondrial dysfunction in Stuve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.	Morava, E.; Hamel, B.C.J.; Hol, F.A.; Rodenburg, R.J.T.; Smeitink, J.A.M.
2006	Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.	Morava, E.; Rodenburg, R.J.T.; Hol, F.A.; Meirleir, L. de; Seneca, S.; Busch, R.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.
2006	Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.	Coenen, M.J.H.; Smeitink, J.A.M.; Pots, J.M.; Kaauwen, E. van; Trijbels, J.M.F.; Hol, F.A.; Heuvel, L.P.W.J. van den
2006	Mitochondrial disease criteria: diagnostic applications in children.	Morava, E.; Heuvel, L.P.W.J. van den; Hol, F.A.; Vries, M.C. de; Hogeveen, M.; Rodenburg, R.J.T.; Smeitink, J.A.M.
2006	Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.	Morava, E.; Rodenburg, R.J.T.; Hol, F.A.; Vries, M. de; Janssen, A.; Heuvel, L.P.W.J. van den; Nijtmans, L.G.J.; Smeitink, J.A.M.
2005	Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis.	Lowik, M.; Hol, F.A.; Steenbergen, E.; Wetzels, J.F.M.; Heuvel, L.P.W.J. van den
2004	Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family.	Kovel, C.G.F. de; Hol, F.A.; Heister, J.G.A.M.; Willemen, J.J.H.T.; Sandkuijl, L.A.; Franke, B.; Padberg, G.W.A.M.
2004	Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.	Solomon, N.M.; Ross, S.; Morgan, T.; Belsky, J.L.; Hol, F.A.; Karnes, P.; Hopwood, N.J.; Myers, S.E.; Tan, A.; Warne, G.L.; Forrest, S.M.; Thomas, P.Q.
2004	Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.	Klootwijk, E.D.; Groenen, P.; Schijvenaars, M.M.V.A.P.; Hol, F.A.; Hamel, B.C.J.; Straatman, H.M.P.M.; Steegers-Theunissen, R.P.M.; Mariman, E.C.M.; Franke, B.
1997	Methionine synthase and neural tube defects	Morrison, K.; Edwards, Y.H.; Lynch, S.A.; Burn, J.; Hol, F.A.; Mariman, E.C.M.
1996	PAX genes and human neural tube defects : an aminio acid substitution in PAX1 in a patient with spina bifida	Hol, F.A.; Geurds, M.P.A.; Chatkupt, S.; Shugart, Y.Y.; Balling, R.; Schrander-Stumpel, C.T.R.M.; Johnson, W.G.; Hamel, B.C.J.; Mariman, E.C.M.
1995	Absence of linkage between familial neural tube defects and PAX3 gene	Chatkupt, S.; Hol, F.A.; Shugart, Y.Y.; Geurds, M.P.A.; Stenroos, E.S.; Koenigsberger, M.R.; Hamel, B.C.J.; Johnson, W.G.; Mariman, E.C.M.
1995	A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome	Hol, F.A.; Hamel, B.C.J.; Geurds, M.P.A.; Mullaart, R.A.; Barr, F.G.; Macina, R.A.; Mariman, E.C.M.
1995	A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome	Hol, F.A.; Hamel, B.C.J.; Geurds, M.P.A.; Mullaart, R.A.; Barr, F.G.; Macina, R.A.; Mariman, E.C.M.
1995	Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family	Hol, F.A.; Hamel, B.C.J.; Geurds, M.P.A.; Hansmann, I.; Nabben, F.A.E.; Daniels, O.; Mariman, E.C.M.
1995	Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family	Hol, F.A.; Hamel, B.C.J.; Geurds, M.P.A.; Hansmann, I.; Nabben, F.A.E.; Daniëls, O.; Mariman, E.C.M.