Publications by authors named "Jacques Giltay"

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A functional role for septin-2 in the maintenance of the axon initial segment and in human cognitive development.
Luisa Weiss, Macarena Pavez, Anastasia Labudina, Liliia Andriichuk, Owen Jones, Jacques Giltay

Brain· December 2025

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LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics.
Irena J J Muffels, Theodore Carter, Holger Rehmann, Sebastiaan J Vastert, Annemarie A Verrijn Stuart, Jacques C Giltay

iScience· June 2025

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Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.
Babeth van Ommeren, Maud Hoekstra, Koen van Gassen, Richard van Jaarsveld, Gijs van Haaften, Jacques C Giltay

Am J Med Genet A· February 2025

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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss, Jacques C Giltay

Am J Hum Genet· August 2024

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LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome.
Jelena Pozojevic, Radhika Sivaprasad, Joshua Laß, Franziska Haarich, Joanne Trinh, Jacques C Giltay

Sci Rep· July 2024

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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Jacques C Giltay

Cell Death Dis· May 2024

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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with mutations.
Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Jacques Giltay

J Med Genet· January 2024

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Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors.
Cezanne D Kooij, Annelies M C Mavinkurve-Groothuis, Idske C L Kremer Hovinga, Leendert H J Looijenga, Tuula Rinne, Jacques C Giltay

J Clin Endocrinol Metab· November 2022

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Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development.
Bas M Smits, Taila Hartley, Ester Dünnebach, Marije Bartels, Kim M Boycott, Jacques C Giltay

Hemasphere· October 2022

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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Jacques C Giltay

Am J Hum Genet· February 2022

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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Michael A Levy, David B Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Jacques C Giltay

NPJ Genom Med· November 2021

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Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Michael A Levy, David B Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Jacques C Giltay

NPJ Genom Med· November 2021

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Maternal risk associated with the VACTERL association: A case-control study.
Romy van de Putte, Hermien E K de Walle, Kirsten J M van Hooijdonk, Ivo de Blaauw, Carlo L M Marcelis, Jacques C Giltay

Birth Defects Res· November 2020

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A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.
Federico Tessadori, Atteeq U Rehman, Jacques C Giltay, Fan Xia, Haley Streff

Eur J Hum Genet· May 2020

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Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.
Sjors Middelkamp, Judith M Vlaar, Jacques Giltay, Jerome Korzelius, Nicolle Besselink

Genome Med· December 2019

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Phenotype delineation of ZNF462 related syndrome.
Paul Kruszka, Tommy Hu, Sungkook Hong, Rebecca Signer, Benjamin Cogné, Jacques C Giltay

Am J Med Genet A· October 2019

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Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.
Idske C L Kremer Hovinga, Jacques C Giltay, Saskia N van der Crabben, Anja Steyls, Hetty J van der Kamp

Clin Endocrinol (Oxf)· September 2018

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The effect of early life stress on the cognitive phenotype of children with an extra X chromosome (47,XXY/47,XXX).
Sophie van Rijn, Petra Barneveld, Mie-Jef Descheemaeker, Jacques Giltay, Hanna Swaab

Child Neuropsychol· February 2018

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Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
Arjan F Theil, Imke K Mandemaker, Emile van den Akker, Sigrid M A Swagemakers, Anja Raams, Jacques C Giltay

Hum Mol Genet· December 2017

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Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
Federico Tessadori, Jacques C Giltay, Jane A Hurst, Maarten P Massink, Karen Duran

Nat Genet· November 2017

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Mutations in -acetylglucosamine (-GlcNAc) transferase in patients with X-linked intellectual disability.
Anke P Willems, Mehmet Gundogdu, Marlies J E Kempers, Jacques C Giltay, Rolph Pfundt

J Biol Chem· July 2017

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Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?
Jacques C Giltay, Aart J Klijn, Tom P V M de Jong, Peter Kats, Marjolijn van Breugel

Mol Syndromol· July 2016

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Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
Joris M Van Montfrans, Esther A R Hartman, Kees P J Braun, Eric A M Hennekam, Elisabeth A Hak, Jacques C Giltay

Rheumatology (Oxford)· May 2016

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Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Nayia Nicolaou, Sara L Pulit, Isaac J Nijman, Glen R Monroe, Wout F J Feitz, Jacques C Giltay

Kidney Int· February 2016

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Jacques Giltay

Am J Hum Genet· August 2015

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