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Author Koen L I van Gassen

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Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics.

Marten H P M Kerkhofs, Hanneke A Haijes, A Marcel Willemsen, Koen L I van Gassen, Maria van der Ham, Johan Gerrits, Monique G M de Sain-van der Velden, Hubertus C M T Prinsen, Hanneke W M van Deutekom, Peter M van Hasselt, Nanda M Verhoeven-Duif, Judith J M Jans,

Next-generation sequencing and next-generation metabolic screening are, independently, increasingly applied in clinical diagnostics of inborn errors of metabolism (IEM). Integrated into a single bioinformatic method, these two -omics technologies can potentially further improve the diagnostic yield for IEM. Here, we present cross-omics: a method that uses untargeted metabolomics results of ... Read more >>

Metabolites (Metabolites)
[2020, 10(5):]

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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Joost Kummeling, Diante E Stremmelaar, Nicholas Raun, Margot R F Reijnders, Marjolein H Willemsen, Martina Ruiterkamp-Versteeg, Marga Schepens, Calvin C O Man, Christian Gilissen, Megan T Cho, Kirsty McWalter, Margje Sinnema, James W Wheless, Marleen E H Simon, Casie A Genetti, Alicia M Casey, Paulien A Terhal, Jasper J van der Smagt, Koen L I van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas-Rothschild, David A Koolen, Pankaj B Agrawal, Trevor L Hoffman, Nina N Powell-Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf Bodamer, Julia Hoefele, Korbinian M Riedhammer, Eva M C Schwaibold, Velibor Tasic, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R Higgs, Jamie M Kramer, Tjitske Kleefstra,

Defects in histone methyltransferases (HMTs) are major contributing factors in neurodevelopmental disorders (NDDs). Heterozygous variants of SETD1A involved in histone H3 lysine 4 (H3K4) methylation were previously identified in individuals with schizophrenia. Here, we define the clinical features of the Mendelian syndrome associated with haploinsufficiency of SETD1A by investigating 15 ... Read more >>

Mol. Psychiatry (Molecular psychiatry)
[2020, :]

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De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.

Mitsuko Nakashima, Mitsuhiro Kato, Masaru Matsukura, Ryutaro Kira, Lock-Hock Ngu, Klaske D Lichtenbelt, Koen L I van Gassen, Satomi Mitsuhashi, Hirotomo Saitsu, Naomichi Matsumoto,

The ubiquitin-proteasome system is the principal system for protein degradation mediated by ubiquitination and is involved in various cellular processes. Cullin-RING ligases (CRL) are one class of E3 ubiquitin ligases that mediate polyubiquitination of specific target proteins, leading to decomposition of the substrate. Cullin 3 (CUL3) is a member of ... Read more >>

J. Hum. Genet. (Journal of human genetics)
[2020, :]

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The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course.

Willemijn F E Kuper, Claudia van Alfen, Linda van Eck, Stella A de Man, Marjolein H Willemsen, Koen L I van Gassen, Monique Losekoot, Peter M van Hasselt,

Background:CLN3 disease is a disorder of lysosomal homeostasis predominantly affecting the retina and the brain. The severity of the underlying mutations in CLN3 particularly determines onset and course of neurological deterioration. Given the highly conserved start codon code among eukaryotic species, we expected a variant in the start codon of ... Read more >>

JIMD Rep (JIMD reports)
[2020, 52(1):23-27]

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Phenotype delineation of ZNF462 related syndrome.

Paul Kruszka, Tommy Hu, Sungkook Hong, Rebecca Signer, Benjamin Cogné, Betrand Isidor, Sarah E Mazzola, Jacques C Giltay, Koen L I van Gassen, Eleina M England, Lynn Pais, Charlotte W Ockeloen, Pedro A Sanchez-Lara, Esther Kinning, Darius J Adams, Kayla Treat, Wilfredo Torres-Martinez, Maria F Bedeschi, Maria Iascone, Stephanie Blaney, Oliver Bell, Tiong Y Tan, Marie-Ange Delrue, Julie Jurgens, Brenda J Barry, Elizabeth C Engle, Sarah K Savage, Nicole Fleischer, Julian A Martinez-Agosto, Kym Boycott, Elaine H Zackai, Maximilian Muenke,

Zinc finger protein 462 (ZNF462) is a relatively newly discovered vertebrate specific protein with known critical roles in embryonic development in animal models. Two case reports and a case series study have described the phenotype of 10 individuals with ZNF462 loss of function variants. Herein, we present 14 new individuals ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2019, 179(10):2075-2082]

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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, Saskia Maas, Hester Y Kroes, Augusta M A Lachmeijer, Koen L I van Gassen, Helen V Firth, Susan Tomkins, Simon Bodek, , Katrin Õunap, Monica H Wojcik, Christopher Cunniff, Katherine Bergstrom, Zoë Powis, Sha Tang, Deepali N Shinde, Catherine Au, Alejandro D Iglesias, Kosuke Izumi, Jacqueline Leonard, Ahmad Abou Tayoun, Samuel W Baker, Marco Tartaglia, Marcello Niceta, Maria Lisa Dentici, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Antonio Vitobello, Laurence Faivre, Christophe Philippe, Christian Gilissen, Laurens Wiel, Rolph Pfundt, Pelagia Deriziotis, Han G Brunner, Simon E Fisher,

POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder. Here, we report the identification of 19 individuals with heterozygous POU3F3 disruptions, most of which are de novo variants. ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2019, 105(2):403-412]

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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Hanneke A Haijes, Maria J E Koster, Holger Rehmann, Dong Li, Hakon Hakonarson, Gerarda Cappuccio, Miroslava Hancarova, Daphne Lehalle, Willie Reardon, G Bradley Schaefer, Anna Lehman, Ingrid M B H van de Laar, Coranne D Tesselaar, Clesson Turner, Alice Goldenberg, Sophie Patrier, Julien Thevenon, Michele Pinelli, Nicola Brunetti-Pierri, Darina Prchalová, Markéta Havlovicová, Markéta Vlckova, Zdeněk Sedláček, Elena Lopez, Vassilis Ragoussis, Alistair T Pagnamenta, Usha Kini, Harmjan R Vos, Robert M van Es, Richard F M A van Schaik, Ton A J van Essen, Maria Kibaek, Jenny C Taylor, Jennifer Sullivan, Vandana Shashi, Slave Petrovski, Christina Fagerberg, Donna M Martin, Koen L I van Gassen, Rolph Pfundt, Marni J Falk, Elizabeth M McCormick, H T Marc Timmers, Peter M van Hasselt,

The RNA polymerase II complex (pol II) is responsible for transcription of all ∼21,000 human protein-encoding genes. Here, we describe sixteen individuals harboring de novo heterozygous variants in POLR2A, encoding RPB1, the largest subunit of pol II. An iterative approach combining structural evaluation and mass spectrometry analyses, the use of ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2019, 105(2):283-301]

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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

Emmanuel Scalais, Elise Osterheld, Christine Geron, Charlotte Pierron, Ronit Chafai, Vincent Schlesser, Patricia Borde, Luc Regal, Hilde Laeremans, Koen L I van Gassen, L Bert van den Heuvel, Linda De Meirleir,

Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or X-linked disorders. Parenteral hydroxocobalamin (P-OHCbl) is the mainstay of therapy, but the optimal dose has not been determined. Despite early treatment, long-term complications may develop. We have analyzed the biochemical and clinical responses in five patients with early ... Read more >>

JIMD Rep (JIMD reports)
[2019, 49(1):70-79]

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Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.

Paulien A Terhal, Judith M Vlaar, Sjors Middelkamp, Rutger A J Nievelstein, Peter G J Nikkels, Jamila Ross, Marijn Créton, Jeroen W Bos, Elsbeth S M Voskuil-Kerkhof, Edwin Cuppen, Nine Knoers, Koen L I van Gassen,

RNA polymerase III (Pol III) is an essential 17-subunit complex responsible for the transcription of small housekeeping RNAs such as transfer RNAs and 5S ribosomal RNA. Biallelic variants in four genes (POLR3A, POLR3B, and POLR1C and POLR3K) encoding Pol III subunits have previously been found in individuals with (neuro-) developmental ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2020, 28(1):31-39]

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H Rodan, Catherine B Nowak, Jessica Douglas, Kathryn J Swoboda, Marcie A Steeves, Inderneel Sahai, Connie T R M Stumpel, Alexander P A Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T Gibson, Ana S A Cohen, Ruky Agbahovbe, A Micheil Innes, P Y Billie Au, Julia Rankin, Ilse J Anderson, Steven A Skinner, Raymond J Louie, Hannah E Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H Chae, Susan Price, Rhonda E Schnur, Ganka Douglas, Ingrid M Wentzensen, Christiane Zweier, André Reis, Martin G Bialer, Christine Moore, Marije Koopmans, Eva H Brilstra, Glen R Monroe, Koen L I van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A Mayr, Saskia B Wortmann, Kathy J Jakielski, Edythe A Strand, Katja Kloth, Tatjana Bierhals, , John D Roberts, Robert M Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G Brunner, Paul A Wade, Simon E Fisher, Philippe M Campeau,

The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1. ... Read more >>

Nat Commun (Nature communications)
[2019, 10(1):2079]

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H Rodan, Catherine B Nowak, Jessica Douglas, Kathryn J Swoboda, Marcie A Steeves, Inderneel Sahai, Connie T R M Stumpel, Alexander P A Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T Gibson, Ana S A Cohen, Ruky Agbahovbe, A Micheil Innes, P Y Billie Au, Julia Rankin, Ilse J Anderson, Steven A Skinner, Raymond J Louie, Hannah E Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H Chae, Susan Price, Rhonda E Schnur, Ganka Douglas, Ingrid M Wentzensen, Christiane Zweier, André Reis, Martin G Bialer, Christine Moore, Marije Koopmans, Eva H Brilstra, Glen R Monroe, Koen L I van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A Mayr, Saskia B Wortmann, Kathy J Jakielski, Edythe A Strand, Katja Kloth, Tatjana Bierhals, , John D Roberts, Robert M Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G Brunner, Paul A Wade, Simon E Fisher, Philippe M Campeau,

The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article. ... Read more >>

Nat Commun (Nature communications)
[2019, 10(1):883]

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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C Spillmann, Jennifer A Sullivan, Vandana Shashi, Yong-Hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F Buckley, Anne Turner, Wendy D Jones, Peter M van Hasselt, Floris C Hofstede, Koen L I van Gassen, Alice S Brooks, Marjon A van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D Krantz, Jennifer M Tarpinian, Jill A Rosenfeld, Brendan H Lee, , Philippe M Campeau,

SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and corticogenesis. Pathogenic variants in genes encoding other components of the BAF complex have been associated with intellectual disability syndromes. Despite its significant biological role, ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2019, 104(1):164-178]

Cited: 3 times

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Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Florian Villegas, Daphné Lehalle, Daniela Mayer, Melanie Rittirsch, Michael B Stadler, Marietta Zinner, Daniel Olivieri, Pierre Vabres, Laurence Duplomb-Jego, Eveline S J M De Bont, Yannis Duffourd, Floor Duijkers, Magali Avila, David Geneviève, Nada Houcinat, Thibaud Jouan, Paul Kuentz, Klaske D Lichtenbelt, Christel Thauvin-Robinet, Judith St-Onge, Julien Thevenon, Koen L I van Gassen, Mieke van Haelst, Silvana van Koningsbruggen, Daniel Hess, Sebastien A Smallwood, Jean-Baptiste Rivière, Laurence Faivre, Joerg Betschinger,

Self-renewal and differentiation of pluripotent murine embryonic stem cells (ESCs) is regulated by extrinsic signaling pathways. It is less clear whether cellular metabolism instructs developmental progression. In an unbiased genome-wide CRISPR/Cas9 screen, we identified components of a conserved amino-acid-sensing pathway as critical drivers of ESC differentiation. Functional analysis revealed that ... Read more >>

Cell Stem Cell (Cell stem cell)
[2019, 24(2):257-270.e8]

Cited: 3 times

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H Rodan, Catherine B Nowak, Jessica Douglas, Kathryn J Swoboda, Marcie A Steeves, Inderneel Sahai, Connie T R M Stumpel, Alexander P A Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T Gibson, Ana S A Cohen, Ruky Agbahovbe, A Micheil Innes, P Y Billie Au, Julia Rankin, Ilse J Anderson, Steven A Skinner, Raymond J Louie, Hannah E Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H Chae, Susan Price, Rhonda E Schnur, Ganka Douglas, Ingrid M Wentzensen, Christiane Zweier, André Reis, Martin G Bialer, Christine Moore, Marije Koopmans, Eva H Brilstra, Glen R Monroe, Koen L I van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A Mayr, Saskia B Wortmann, Kathy J Jakielski, Edythe A Strand, Katja Kloth, Tatjana Bierhals, , John D Roberts, Robert M Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G Brunner, Paul A Wade, Simon E Fisher, Philippe M Campeau,

Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To ... Read more >>

Nat Commun (Nature communications)
[2018, 9(1):4619]

Cited: 2 times

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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Parisa Hemati, Anya Revah-Politi, Haim Bassan, Slavé Petrovski, Colleen G Bilancia, Keri Ramsey, Nicole G Griffin, Louise Bier, Megan T Cho, Monica Rosello, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte Haug, Erin L Heinzen, Tristan T Sands, Vinodh Narayanan, Michelle Primiano, Vimla S Aggarwal, Francisca Millan, Shannon G Sattler-Holtrop, Alfonso Caro-Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y Kroes, Stephanie Sacharow, Nick Stong, Pablo Lapunzina, Michael C Schneider, Nancy J Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monica Weiss, Samantha Doyle, Alejandro Iglesias, Francisco Martinez, Fiona Mckenzie, Carmen Orellana, Koen L I van Gassen, Maria Palomares, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel-Vanagaite, Maria Hafström, Gunnar Houge, , , David B Goldstein, Kwame Anyane-Yeboa,

De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient with mosaicism for a GNB1 mutation who presented with a milder ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2018, 176(11):2259-2275]

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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Davor Lessel, Christina Gehbauer, Nuria C Bramswig, Caroline Schluth-Bolard, Sathish Venkataramanappa, Koen L I van Gassen, Maja Hempel, Tobias B Haack, Anja Baresic, Casie A Genetti, Mariana F A Funari, Ivana Lessel, Leonie Kuhlmann, Ruth Simon, Pentao Liu, Jonas Denecke, Alma Kuechler, Ineke de Kruijff, Moneef Shoukier, Monkol Lek, Thomas Mullen, Hermann-Josef Lüdecke, Antonio M Lerario, Robin Kobbe, Thorsten Krieger, Benedicte Demeer, Marine Lebrun, Boris Keren, Caroline Nava, Julien Buratti, Alexandra Afenjar, Marwan Shinawi, Maria J Guillen Sacoto, Julie Gauthier, Fadi F Hamdan, Anne-Marie Laberge, Philippe M Campeau, Raymond J Louie, Sara S Cathey, Immo Prinz, Alexander A L Jorge, Paulien A Terhal, Boris Lenhard, Dagmar Wieczorek, Tim M Strom, Pankaj B Agrawal, Stefan Britsch, Eva Tolosa, Christian Kubisch,

The transcription factor BCL11B is essential for development of the nervous and the immune system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity, and impaired immune cell development in mice. However, the precise role of BCL11B in humans is largely unexplored, except for a single patient with ... Read more >>

Brain (Brain : a journal of neurology)
[2018, 141(8):2299-2311]

Cited: 4 times

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Whole-exome sequencing in intellectual disability; cost before and after a diagnosis.

Terry Vrijenhoek, Eline M Middelburg, Glen R Monroe, Koen L I van Gassen, Joost W Geenen, Anke M Hövels, Nine V Knoers, Hans Kristian Ploos van Amstel, Gerardus W J Frederix,

Clinical application of whole-exome and whole-genome sequencing (WES and WGS) has led to an increasing interest in how it could drive healthcare decisions. As with any healthcare innovation, implementation of next-generation sequencing in the clinic raises questions on affordability and costing impact for society as a whole. We retrospectively analyzed ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2018, 26(11):1566-1571]

Cited: 3 times

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Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Sabine A Fuchs, Imre F Schene, Gautam Kok, Jurriaan M Jansen, Peter G J Nikkels, Koen L I van Gassen, Suzanne W J Terheggen-Lagro, Saskia N van der Crabben, Sanne E Hoeks, Laetitia E M Niers, Nicole I Wolf, Maaike C de Vries, David A Koolen, Roderick H J Houwen, Margot F Mulder, Peter M van Hasselt,

PURPOSE:Pathogenic variations in genes encoding aminoacyl-tRNA synthetases (ARSs) are increasingly associated with human disease. Clinical features of autosomal recessive ARS deficiencies appear very diverse and without apparent logic. We searched for common clinical patterns to improve disease recognition, insight into pathophysiology, and clinical care. METHODS:Symptoms were analyzed in all patients ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(2):319-330]

Cited: 2 times

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Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.

Monique G M de Sain-van der Velden, Willemijn F E Kuper, Marie-Anne Kuijper, Lenneke A T van Kats, Hubertus C M T Prinsen, Astrid C J Balemans, Gepke Visser, Koen L I van Gassen, Peter M van Hasselt,

BACKGROUND:Biallelic mutations in DNAJC12 were recently identified as a BH4-responsive cause of hyperphenylalaninemia (HPA). Outcome was only favorable when treatment was initiated early in life. We report on a 15-year-old boy with HPA due to a homozygous deletion in DNAJC12 in whom - despite his advanced age - treatment was ... Read more >>

JIMD Rep (JIMD reports)
[2018, 42:99-103]

Cited: 1 time

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Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Jeannette Hoogeboom, Raoul Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie Motter, Catherine Melver, Michael Cunningham, Anne Hing, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Antonio Richieri-Costa, Annette F Baas, Corstiaan C Breugem, Karen Duran, Maarten Massink, Patrick W B Derksen, Wilfred F J van IJcken, Leontine van Unen, Fernando Santos-Simarro, Pablo Lapunzina, Vera L Gil-da Silva Lopes, Elaine Lustosa-Mendes, Max Krall, Anne Slavotinek, Victor Martinez-Glez, Jeroen Bakkers, Koen L I van Gassen, Annelies de Klein, Marie-José H van den Boogaard, Gijs van Haaften,

Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2018, 26(2):210-219]

Cited: 3 times

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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Cristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, Agnieszka Charzewska, Julian Schubert, Tally Lerman-Sagie, Hester Y Kroes, Renske Oegema, Monica Traverso, Nicola Specchio, Maria Lassota, Jamel Chelly, Odeya Bennett-Back, Nirit Carmi, Tal Koffler-Brill, Michele Iacomino, Marina Trivisano, Giuseppe Capovilla, Pasquale Striano, Magdalena Nawara, Sylwia Rzonca, Ute Fischer, Melanie Bienek, Corinna Jensen, Hao Hu, Holger Thiele, Janine Altmüller, Roland Krause, Patrick May, Felicitas Becker, , Rudi Balling, Saskia Biskup, Stefan A Haas, Peter Nürnberg, Koen L I van Gassen, Holger Lerche, Federico Zara, Snezana Maljevic, Esther Leshinsky-Silver,

Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity ... Read more >>

Brain (Brain : a journal of neurology)
[2017, 140(11):2879-2894]

Cited: 6 times

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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, Harmjan R Vos, Robert M van Es, , Richard H Scott, Koen L I van Gassen, Jeroen Bakkers, Gijs van Haaften,

Covalent modifications of histones have an established role as chromatin effectors, as they control processes such as DNA replication and transcription, and repair or regulate nucleosomal structure. Loss of modifications on histone N tails, whether due to mutations in genes belonging to histone-modifying complexes or mutations directly affecting the histone ... Read more >>

Nat. Genet. (Nature genetics)
[2017, 49(11):1642-1646]

Cited: 6 times

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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu, Yesim Parman, Koen L I van Gassen, Marie-José H van den Boogaard, Kym M Boycott, Liisa Kauppi, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa,

Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or ... Read more >>

Brain (Brain : a journal of neurology)
[2017, 140(8):2093-2103]

Cited: 3 times

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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

Ilaria Guella, Marna B McKenzie, Daniel M Evans, Sarah E Buerki, Eric B Toyota, Margot I Van Allen, , Mohnish Suri, Frances Elmslie, , Marleen E H Simon, Koen L I van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary B Connolly, Michelle Demos, Matthew J Farrer,

Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. Additional candidate genes have been prioritized in silico by their co-expression in the brain. Here, we evaluate rare coding variability in 20 candidates nominated with the use of a ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2017, 101(2):300-310]

Cited: 7 times

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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Cara M Skraban, Constance F Wells, Preetha Markose, Megan T Cho, Addie I Nesbitt, P Y Billie Au, Amber Begtrup, John A Bernat, Lynne M Bird, Kajia Cao, Arjan P M de Brouwer, Elizabeth H Denenberg, Ganka Douglas, Kristin M Gibson, Katheryn Grand, Alice Goldenberg, A Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David M Markie, Martina M Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire L S Turner, Nienke E Verbeek, Laurence E Walsh, Taylor C Warner, Patricia G Wheeler, Dagmar Wieczorek, Alisha B Wilkens, Evelien Zonneveld-Huijssoon, , Tjitske Kleefstra, Stephen P Robertson, Avni Santani, Koen L I van Gassen, Matthew A Deardorff,

We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2017, 101(1):139-148]

Cited: 6 times

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