J. Giltay

发表

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, Ariana E. Giuliano, J. Wiszniewska, 2014, The Lancet Neurology.

The Effect of Colchicine Treatment on Spermatozoa: A Cytogenetic Approach

J. Giltay, P. Kastrop, Ine Kimmel, 1999, Journal of Assisted Reproduction and Genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

M. Nelen, H. Bokhoven, T. Kleefstra, 2011, Human Mutation.

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Edwin Cuppen, Wigard P. Kloosterman, Markus J. van Roosmalen, 2019, Genome Medicine.

No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux.

J. Giltay, H. K. V. van Amstel, J. V. D. van de Meerakker, 2004, The Journal of urology.

Does the genetic and familial background of males undertaking ICSI affect the outcome?

J. Giltay, M. Lock, P. Kastrop, 2009, Journal of Assisted Reproduction and Genetics.

Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?

H. van Bokhoven, J. Giltay, M. Lock, 2002, Clinical dysmorphology.

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

P. Nederkoorn, A. Liston, M. van Gijn, 2016, Rheumatology.

A case of de novo interstitial deletion of chromosome 5(q33q34)

J. Giltay, H. Dauwerse, K. Gerssen-Schoorl, 1997, Clinical genetics.

Klinefelter syndrome: clinical and molecular aspects

J. Giltay, M. Maiburg, Merel C. Maiburg, 2010, Expert review of molecular diagnostics.

Analysis of Spermatozoa from Seven ICSI Males with Constitutional Sex Chromosomal Abnormalities by Fluorescent In Situ Hybridization

J. Giltay, P. Kastrop, R. V. van Golde, 2000, Journal of Assisted Reproduction and Genetics.

Unstable transmission of a familial complex chromosome rearrangement

E. van Binsbergen, R. Hochstenbach, J. Giltay, 2012, American journal of medical genetics. Part A.

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

J. Lupski, C. Wijmenga, S. Kulkarni, 2007, American journal of human genetics.

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

J. Giltay, B. Poll-The, J. Smeitink, 1996, Human heredity.

Large inv dup(15) chromosome in two generations.

J. Giltay, J. van der Smagt, J. J. De Ne, 1996, Journal of medical genetics.

Vesico‐ureteral reflux in children with prenatally detected hydronephrosis: a systematic review

J. Giltay, T. D. de Jong, A. V. van Eerde, 2007, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in the Netherlands

S. Lyonnet, J. Giltay, B. Poll-The, 1993 .

Is joint hypermobility associated with vesico‐ureteral reflux? An assessment of 50 patients

R. Engelbert, V. Verhoeven, J. Giltay, 2012, BJU international.

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4‐related autoinflammatory disease, expansion of the phenotype

M. Boes, J. Giltay, J. Schalkwijk, 2017, The British journal of dermatology.

Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?

R. Hochstenbach, L. T. van der Veken, J. Giltay, 2016, Molecular Syndromology.

The phenylketonuria G272X haplotype 7 mutation in European populations

J. Giltay, L. Kozák, F. Güttler, 1993, Human Genetics.

Apparent primary follicle-stimulating hormone deficiency is a rare cause of treatable male infertility.

C. Wijmenga, J. Giltay, P. Kastrop, 2004, Fertility and sterility.

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

J. Schuurs-Hoeijmakers, M. Genuardi, T. Kleefstra, 2022, European journal of medical genetics.

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

R. Hochstenbach, D. Wieczorek, J. Giltay, 2009, European Journal of Human Genetics.

University of Dundee Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4- related autoinflammatory disease, expansion of the phenotype Volker-Touw,

M., J. Giltay, J. Schalkwijk, 2016 .

Erythematous nodes , urticarial rash and arthralgias in a large pedigree with NLRC 4-related autoinflammatory disease , expansion of the phenotype Running title : Skin lesions and arthralgias in NLRC 4-related autoinflammatory disease

M., J. Giltay, J. Schalkwijk, 2016 .

Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).

W. Kloosterman, J. Giltay, B. Fauser, 2012, Fertility and sterility.

Further confirmation of the MED13L haploinsufficiency syndrome

J. Giltay, G. Haaften, K. Duran, 2014, European Journal of Human Genetics.

Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample

R. Kahn, J. Giltay, I. Sommer, 2007, Schizophrenia Research.

Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients

C. Wijmenga, L. H. van den Berg, J. Giltay, 2012, PloS one.

Distinct molecular origins for Denys-Drash and Frasier syndromes

M. Gessler, J. Giltay, C. Sultan, 1993, Human Genetics.

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Edwin Cuppen, Wigard P. Kloosterman, Markus J. van Roosmalen, 2019, Genome Medicine.

Reproductive decisions of men with microdeletions of the Y chromosome: the role of genetic counselling.

J. Giltay, P. De Sutter, J. Kremer, 1999, Human reproduction.

Subfertile men with constitutive chromosome abnormalities do not necessarily refrain from intracytoplasmic sperm injection treatment: a follow-up study on 75 Dutch patients.

J. Giltay, J. Kremer, R. Hordijk, 1999, Human reproduction.

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

T. de Ravel, B. Menten, I. Casteels, 2011, Investigative ophthalmology & visual science.

The genetic origin of Klinefelter syndrome and its effect on spermatogenesis.

J. Giltay, S. Repping, M. Maiburg, 2012, Fertility and sterility.

Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study

R. Sinke, J. Giltay, M. Ausems, 2001, European Journal of Pediatrics.

Hereditary persistence of alpha-fetoprotein (HPAF P): review of the literature.

J. Giltay, M. Lock, E. Lentjes, 2010, The Netherlands journal of medicine.

Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins

R. Hochstenbach, J. Giltay, F. Broekmans, 2007, American journal of medical genetics. Part A.

Sperm analysis in a subfertile male with a Y;16 translocation, using four-color FISH

P. Pearson, J. Giltay, P. Kastrop, 1999, Cytogenetic and Genome Research.

Diploid/triploid mosaicism in dysmorphic patients

R. Hochstenbach, J. Giltay, I. M. van de Laar, 2002, Clinical genetics.

One normal child and a chromosomally balanced/normal twin after intracytoplasmic sperm injection in a male with a de-novo t(Y;16) translocation.

J. Giltay, J. Scheres, W. van Inzen, 1998, Human reproduction.

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

S. Lalani, F. Xia, J. Giltay, 2019, European Journal of Human Genetics.

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

J. Hurst, R. Scott, J. Giltay, 2017, Nature Genetics.

Severe phenotypes associated with inactive ring X chromosomes.

B. Migeon, G. Raymond, J. Giltay, 2000, American journal of medical genetics.

Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up.

R. Hochstenbach, R. Sinke, J. Giltay, 2002, American journal of medical genetics.

Maternal risk associated with the VACTERL association: A case–control study

I. V. van Rooij, J. Giltay, N. Roeleveld, 2020, Birth defects research.

Kinetics of meiosis in azoospermic males: a joint histological and cytological approach

R. Hochstenbach, J. Giltay, P. de Boer, 2004, Cytogenetic and Genome Research.

Unbalanced karyotype, dup 14(q13‐q22), in a mother and her two children

J. Giltay, E. Breslau‐Siderius, M. L. H. Pot, 1996, Clinical genetics.

Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite.

C. Wijmenga, P. Pearson, J. Wit, 1998, American journal of human genetics.

Growth of mycoplasma transformed tTN129 cells depends on IGF-I

G. Jansen, P. Roholl, J. Giltay, 1993, In Vitro Cellular & Developmental Biology - Animal.

Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism

R. Hochstenbach, R. Sinke, J. Giltay, 2004, American journal of medical genetics. Part A.

VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13‐q21.2)

J. Giltay, F. Beemer, J. Bokma, 1998, Clinical genetics.

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

R. Pfundt, D. V. van Aalten, M. Kempers, 2017, The Journal of Biological Chemistry.

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

J. Lupski, C. Wijmenga, S. Kulkarni, 2007 .

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

R. Stevenson, K. Doheny, V. Narayanan, 2021, npj Genomic Medicine.

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

R. Stevenson, K. Doheny, V. Narayanan, 2021, NPJ genomic medicine.

Insights from genomic microarrays into structural chromosome rearrangements

H. Tanke, W. Sloos, M. Poot, 2005, American journal of medical genetics. Part A.

Molecular analysis in a large cohort of patients with anterior segment malformations: expanding the spectrum of FOXC1/PITX2 mutations and copy number changes

B. Menten, I. Casteels, R. Oldenburg, 2010 .

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

A. Collins, R. Newbury-Ecob, A. Haeringen, 2019, European Journal of Human Genetics.

Attitudes of Klinefelter men and their relatives towards TESE-ICSI

H. V. van Stel, J. Giltay, M. Maiburg, 2011, Journal of Assisted Reproduction and Genetics.

Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux

C. Wijmenga, J. M. van de Kamp, J. Giltay, 2007, Pediatric Nephrology.

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

B. Franke, I. V. van Rooij, E. Cuppen, 2016, Kidney international.

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

P. Nederkoorn, A. Liston, M. van Gijn, 2015, Pediatric Rheumatology.

An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency.

R. Sinke, J. Giltay, J. Jameson, 2007, The Journal of clinical endocrinology and metabolism.

The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family

G. Pals, A. Scholte, B. Hamel, 2010, Human mutation.

Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge.

J. Giltay, L. Tosca, C. Bouvattier, 2020, Human reproduction.

A case of de novo interstitial deletion of chromosome 9(p12p13)

J. Giltay, K. Gerssen-Schoorl, Ab Wagen, 1994, Clinical genetics.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Whitney J. Smith, R. Redon, J. Rosenfeld, 2022, American journal of human genetics.

Phenotype delineation of ZNF462 related syndrome

E. Zackai, N. Fleischer, K. Boycott, 2019, American journal of medical genetics. Part A.

Telomere Length and Mental Well-Being in Elderly Men from the Netherlands and Greece Nathaly Rius-OttenheimJoyce M. J. HoubenDaan Kromhout • Anthony KafatosRoos C. van der MastFrans G. Zitman • Johanna M. GeleijnseGeja J. HagemanErik J. Giltay

A. Kafatos, J. Giltay, M. Geleijnse, 2012 .

The Parent-of-Origin of the Extra X Chromosome May Differentially Affect Psychopathology in Klinefelter Syndrome

H. Engeland, M. Kas, L. Sonneville, 2010, Biological Psychiatry.

Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors

L. Looijenga, T. Rinne, J. Giltay, 2022, Journal of Clinical Endocrinology and Metabolism.

The effect of early life stress on the cognitive phenotype of children with an extra X chromosome (47,XXY/47,XXX)

S. van Rijn, J. Giltay, H. Swaab, 2018, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

P. J. van der Spek, J. Hoeijmakers, W. Vermeulen, 2017, Human molecular genetics.

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, J. Wiszniewska, S. Cheung, 2013 .

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2010 .

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2018 .

Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials

Jonathan E. Dickerson, R. Collins, M. Nalls, 2011, The Lancet.

Supplementary Webappendix

Jonathan E. Dickerson, L. Holmberg, R. Hennekam, 2022 .

Supplementary webappendix

Jonathan E. Dickerson, V. Beral, R. Hennekam, 2018 .

Is joint hypermobility associated with vesico‐ureteral reflux? An assessment of 50 patients

R. Engelbert, J. Giltay, T. D. de Jong, 2012, BJU international.

A Journal on Normal and Abnormal Development in Childhood and Adolescence

J. Giltay, H. Swaab, M. Descheemaeker, 2017 .

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

B. V. van Bon, R. Pfundt, H. Brunner, 2023, Journal of medical genetics.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

V. Narayanan, N. Orenstein, J. Giltay, 2024, Cell death & disease.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

L. Vissers, R. Pfundt, E. Bacchelli, 2024, American journal of human genetics.