Research group Schenck - Translational genomics of neurodevelopmental disorders

Key publications

• Stessman HAF, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier R, Eichler EE Targeted sequencing identifies 90 neurodevelopmental disorder risk genes with autism and developmental disability biases.
  Nat Genet, 2017 Apr;49(4):515-526.

• Eidhof I*, Fenckova M*, Elurbe D, van de Warrenburg B, Castells Nobau A$, Schenck A$ High-throughput Analysis of Locomotor Behavior in the Drosophila Island Assay
  J Vis Exp, in press (#55892).

• Koemans TS, Oppitz, C, Donders RAT, van Bokhoven H, Schenck A, Keleman K, Kramer JM
  Drosophila courtship conditioning as measure for learning and memory J Vis Exp, in press (#55808).

• Castells-Nobau A*, Nijhof B*, Eidhof, I, Wolf L, de Gooyert-Scheffer JM, Monedero I, Toroja L, Coromina L, van der Laak, JAWM and Schenck A Two Algorithms for High-throughput and Multi-parametric Quantification of Drosophila Neuromuscular Junction Morphology.
  J Vis Exp, 2017 May 3;(123).

• Zazo Seco C*, Castells-Nobau A*, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen MA, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SAR, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S
  A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
  Dis Model Mech, 2017 Feb 1;10(2):105-118.

• Esmaeeli-Nieh S*, Fenckova M*, Porter IM*, Motazacker MM, Nijhof B, Castells-Nobau A, Asztalos Z, Felbor U, Behjati F, Tzschach A, Weißmann R, Scherthan H, Sayfati M, Ropers HH, Kahrizi K, Najmabadi H, Swedlow JR, Schenck A$ and Kuss AW$
  BOD1 is required for cognitive function in human and Drosophila
  Plos Genetics, 2016 May 11;12(5):e1006022.

• van der Voet M, Harich B, Franke B, Schenck A ADHD-associated dopamine transporter, latrophilin and neurofibromin share a dopamine-related locomotor signature in Drosophila Molecular Psychiatry, 2016 Apr;21(4):565-73.

• Nijhof B*, Castells-Nobau A*, Wolf L, de Gooyert-Scheffer JM, Monedero I, Toroja L, Coromina L, van der Laak, JAWM and Schenck A A new Fiji-based algorithm that systematically quantifies nine synaptic parameters provides insights into Drosophila NMJ morphometry PLoS Comp Biol, 2016 Mar 21;12(3):e1004823.

• Willemsen, MH†, Stessman, HAF†, Fenckova M, Penn O, Hoischen A, Xiong, Ph.D.3, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen C, Schuurs-Hoeijmakers J, Wassink-Ruiter JK, Stumpel C, Vles J, Marcelis C, Cantagrel V, Lyonnet S, Bernier R, Coe BP, Romano C, Nordenskjöld M, Kvarnung M, Guo, H, Xia, K, de Leeuw N, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Schenck A, Eichler EE¥, Kleefstra T¥ Disruption of POGZ is associated with intellectual disability and autism spectrum disorders Am J Hum Genet, 2016 Mar 3;98(3):541-52.

• Kochinke K*, Zweier C*, Nijhof B, Fenckova M, Cizek P, Honti F, Keerthikumar S, Oortveld MAW, Kleefstra T, Kramer JM, Webber C, Huynen MA, and Schenck A
  Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules Am J Hum Genet, 2016 Jan 7;98(1):149-64.

• Dubos A*, Castells-Nobau A*, Meziane H*, Oortveld MAW, Houbaert X, Iacono G, Martin C, Mittelhaeuser C, Lalanne V, Kramer JM, Messaddeq N, Quentin C, Slabbert J, Verstreken P, Sigrist SJ, Birling MC, Selloum M, Rosahl T, Mudget J, Stunnenberg HG, Humeau J, Schenck A# and Herault Y#  Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration Human Mol Genet, 2015 Dec 1;24(23):6736-55.

• Foriel S, Willems M, Smeitink J, Schenck A, Beyrath J
  Mitochondrial diseases: Drosophila melanogaster as a model to evaluate potential therapeutics Int J Biochem Cell Biol, 2015 Jun;63:60-5.

• Merkling SH, Bronkhorst AW, Kramer JM, Overheul GJ, Schenck A, Van Rij RP The epigenetic regulator G9a mediates tolerance to virus infection in Drosophila by dampening Jak-Stat responses and preventing excessive immune activation PLoS Pathogens, 2015, 11(4):e1004692

• Gregor A, Kramer JM, van der Voet M, Schanze M, Uebe S, Donders R, Reis A, Schenck A, Zweier C Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Reversible by Cholesterol in Human and Drosophila Human Mutation, 2014 Dec;35(12):1495-505.

• Gilissen C, Hehir‐Kwa JY, Thung DT, van de Vorst M, van Bon BWM, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BBA, Kleefstra T, Brunner HG, Vissers LELM, Veltman JA Genome sequencing identifies major causes of severe intellectual disability
  Nature, 2014 Jul 17;511(7509):344-7.

• van der Voet M*, Nijhof B*, Oortveld MAW and Schenck A. Drosophila models of early onset cognitive disorders and their clinical applications Neuroscience & Biobehavioral Reviews, 2014 Oct;46 Pt 2:326-42. Review

• Oortveld MAV, Keerthikumar S, Oti M, Nijhof B, Fernandes AC, Kochinke K, van Engelen E, Ellenkamp T, Eshuis L, Galy A, van Bokhoven H, Habermann B, Brunner H, Zweier C, Verstreken P, Huynen MA# and Schenck A#
  Human Intellectual Disability genes form conserved functional modules in Drosophila. PLoS Genetics, 2013, Oct;9(10):e1003911

• Gupta VK, Scheunemann L, Eisenberg T, Mertel A, Bhukel A, Koemans T, Kramer JM, Liu KSY, Schroeder S, Stunnenberg HG, Magnes C, Pieber TR, Dipt S, Fiala A, Schenck A, Schwaerzel M, Madeo F & Sigrist SJ.
  Restoration of polyamines protects from age-induced memory impairment in an autophagy-dependent manner
  Nature Neuroscience, 2013, Oct;16(10):1453-60

• Willemsen MH*, Nijhof B*, Fenckova M*, Nillesen WM, Bongers EMH, Castells-Nobau A, Asztalos L, Viragh E, van Bon BWM, Tezel E, Veltman JA, Brunner HG, de Vries BBA, de Ligt J, Yntema HG, van Bokhoven H, Isidor B, Le Caignec C, Lorino E, Asztalos Z, Koolen DA, Vissers LEL, Schenck A#, Kleefstra T#  GATAD2B mutations cause a recognizable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila Journal of Medical Genetics, 2013, Aug;50(8):507-14.

• van Bon BWM*, Oortveld MAW*, Nijtmans LG, Fenckova M, Nijhof B, Besseling JA, Vos M, Kramer JM, Nicole de Leeuw, Castells-Nobau A, Asztalos L, Viragh E, Ruiter M, Hofmann F, Eshuis L, Collavin L, Huynen MA, Asztalos Z, Verstreken P, Rodenburg RJ, Smeitink JA, de Vries BBA# and Schenck A# CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
  Hum Mol Genet, 2013 Aug 1;22(15):3138-51.

• Iqbal Z*, Vandeweyer G*, van der Voet M*, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LEL, Veltman JA, de Brouwer APM, Kooy RF, Riazuddin S, Schenck A#, van Bokhoven B#, and Rooms L#                           
  Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
  Hum Mol Genet, 2013, 22(10):1960-70.

• Schuurs-Hoeijmakers JHM, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort IIG, van der Graaf M, Castells-Nobau A, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J, FORGE Canada Consortium, Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HPH, van de Warrenburg BP, van den Akker WMR, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LEL, Lammens M, van Bokhoven H, Brunner HG., Wevers RA, Schenck A, Al-Gazali L, de Vries BBA, de Brouwer APM Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a new recessive form of complex Hereditary Spastic Paraplegia. Am J Hum Genet, 2012, 91(6):1073-81

• Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Roepke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A and Strom TM. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. The Lancet, 2012, 380(9854):1674-82.

• Kleefstra T*, Kramer JM*, Neveling K, Willemsen MH, Koemans TS, Vissers L, Wissink-Lindhout W, Fenckova M, van den Akker WMR, Nadif-Kasri N, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J de Brouwer APM, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A# and van Bokhoven H# Disruption of a novel EHMT1-associated chromatin modification module causes intellectual disability. Am J Human Genetics, 2012, 91(1):73-82.

• Koolen DA*, Kramer JM*, Neveling K*, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai ACH, Cheung, SW, Gilissen C, Verwiel ETP, Martens S, Feuth T, Bongers EMH, de Vries P, Scheffer H, Vissers LEL, de Brouwer APM, Brunner HG, Veltman JA, Schenck A#, Yntema HG#, de Vries BBA#  Mutations in the chromatin modifier KANSL1 cause the 17q21.31 Microdeletion Syndrome Nature Genetics, 2012, 44(6):639-41

• Kramer JM, Kochinke K, Oortveld MAW, Marks H, Kramer D, de Jong EK, Asztalos Z, Westwood J, Stunnenberg HG, Sokolowski MB, Keleman K, van Bokhoven H and Schenck A  Epigenetic regulation of learning & memory by Drosophila EHMT/G9a.
  PLoS Biol. 2011, 9(1): e1000569.