S
Sonja A. de Munnik
Researcher at Radboud University Nijmegen
Publications - 31
Citations - 1117
Sonja A. de Munnik is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Haploinsufficiency & Microcephaly. The author has an hindex of 15, co-authored 27 publications receiving 807 citations. Previous affiliations of Sonja A. de Munnik include Radboud University Nijmegen Medical Centre.
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Journal ArticleDOI
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
Jae-Ran Lee,Myriam Srour,Doyoun Kim,Fadi F. Hamdan,So Hee Lim,Catherine Brunel-Guitton,Jean Claude Décarie,Elsa Rossignol,Grant A. Mitchell,Allison Schreiber,Rocio Moran,Keith Van Haren,Randal Richardson,Joost Nicolai,Karin M E J Oberndorff,Justin D. Wagner,Kym M. Boycott,Elisa Rahikkala,Nella Junna,Henna Tyynismaa,Inge Cuppen,Nienke E. Verbeek,Connie T.R.M. Stumpel,Michèl A.A.P. Willemsen,Sonja A. de Munnik,Guy A. Rouleau,Eunjoon Kim,Erik-Jan Kamsteeg,Tjitske Kleefstra,Jacques L. Michaud +29 more
TL;DR: It is indicated that de novo missense mutations in the MD of KIF1A cause a phenotype that overlaps with, while being more severe, than that associated with recessive mutation in the same gene.
Journal ArticleDOI
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Tom S. Koemans,Tjitske Kleefstra,Melissa C. Chubak,Max H. Stone,Max H. Stone,Margot R.F. Reijnders,Sonja A. de Munnik,Marjolein H. Willemsen,Michaela Fenckova,Connie T.R.M. Stumpel,Levinus A. Bok,Margarita Saenz,Kyna A. Byerly,Linda B. Baughn,Alexander P.A. Stegmann,Rolph Pfundt,Huiqing Zhou,Hans van Bokhoven,Annette Schenck,Jamie M. Kramer,Jamie M. Kramer +20 more
TL;DR: A novel cohort of five patients with de novo loss of function mutations affecting the histone methyltransferase KMT2C is presented, highlighting the clinical and molecular convergence between the K MT2 and EHMT protein families, which may contribute to a molecular network underlying a larger group of ID/ASD-related disorders.
Journal ArticleDOI
Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Sonja A. de Munnik,Louise S. Bicknell,Salim Aftimos,Jumana Y. Al-Aama,Yolande van Bever,Michael B. Bober,Jill Clayton-Smith,Alaa Y Edrees,Murray Feingold,Alan Fryer,Johanna M. van Hagen,Raoul C.M. Hennekam,Maaike C E Jansweijer,Diana Johnson,Sarina G. Kant,John M. Opitz,A Radha Ramadevi,Willie Reardon,Alison Ross,Pierre Sarda,Constance T.R.M. Schrander-Stumpel,Jeroen Schoots,I. Karen Temple,Paulien A Terhal,Annick Toutain,Carol Wise,Michael Wright,David Skidmore,David Skidmore,Mark E. Samuels,Lies H. Hoefsloot,Nine V A M Knoers,Han G. Brunner,Andrew P. Jackson,Ernie M.H.F. Bongers +34 more
TL;DR: Genotype–phenotype studies in 45 individuals with Meier–Gorlin syndrome found growth hormone and estrogen treatment may be of some benefit, respectively, to growth retardation and breast hypoplasia, though further studies in this patient group are needed.
Journal ArticleDOI
De novo mutations in beta - catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
Alma Kuechler,Marjolein H. Willemsen,Beate Albrecht,Carlos A. Bacino,Dennis Bartholomew,Hans van Bokhoven,Marie José H. Van Den Boogaard,Nuria C. Bramswig,Christian Büttner,Kirsten Cremer,Johanna Christina Czeschik,Hartmut Engels,Koen L.I. van Gassen,Elisabeth Graf,Mieke M. van Haelst,Weimin He,Jacob Hogue,Marlies Kempers,David A. Koolen,Glen R. Monroe,Sonja A. de Munnik,Matthew Pastore,André Reis,Miriam S. Reuter,David Tegay,Joris A. Veltman,Gepke Visser,Peter M. van Hasselt,Eric Smeets,Lisenka E.L.M. Vissers,Thomas Wieland,Willemijn Wissink,Helger G. Yntema,Alexander M. Zink,Tim M. Strom,Hermann-Josef Lüdecke,Tjitske Kleefstra,Dagmar Wieczorek +37 more
TL;DR: The phenotypic characterization of 16 additional individuals with intellectual disability, motor delay and speech impairment and abnormal muscle tone are reported, expanding and further establishing the clinical and mutational spectrum of inactivating CTNNB1 mutations and thereby clinically delineate this new CTNN B1 haploinsufficiency syndrome.
Journal ArticleDOI
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Charlotte W. Ockeloen,Marjolein H. Willemsen,Sonja A. de Munnik,Bregje W. M. van Bon,Bregje W. M. van Bon,Nicole de Leeuw,Aad Verrips,Sarina G. Kant,Elizabeth A. Jones,Han G. Brunner,Rosa L. E. van Loon,Eric Smeets,Mieke M. van Haelst,Gijs van Haaften,Ann Nordgren,Helena Malmgren,Giedre Grigelioniene,Sascha Vermeer,Pedro Louro,Lina Ramos,Thomas J.J. Maal,Celeste C. van Heumen,Helger G. Yntema,Carine Carels,Tjitske Kleefstra +24 more
TL;DR: The largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families, is presented, with consistent facial dysmorphisms comprising a bulbous nasal tip, upturned nose with a broad base and a round or triangular face.