Nataliya Di Donato

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, Center for Molecular Medicine Cologne (CMMC), Center for Rare Diseases, University of Cologne, Cologne, Germany.

View Article and Find Full Text PDF

November 2020

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Authors:

Sonja Walsh Sophie Scarlett Gösswein Andreas Rump Maja von der Hagen Karl Hackmann Evelin Schröck Nataliya Di Donato Anne-Karin Kahlert

Eur J Med Genet 2020 Oct 23;63(10):104019. Epub 2020 Jul 23.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307, Dresden, Germany; Klinik für angeborene Herzfehler und Kinderkardiologie, UKSH, Arnold-Heller-Straße 3, 24109, Kiel, Germany. Electronic address:

View Article and Find Full Text PDF

October 2020

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Authors:

Ashley L Lennox Mariah L Hoye Ruiji Jiang Bethany L Johnson-Kerner Lindsey A Suit Srivats Venkataramanan Charles J Sheehan Fernando C Alsina Brieana Fregeau Kimberly A Aldinger Ching Moey Iryna Lobach Alexandra Afenjar Dusica Babovic-Vuksanovic Stéphane Bézieau Patrick R Blackburn Jens Bunt Lydie Burglen Philippe M Campeau Perrine Charles Brian H Y Chung Benjamin Cogné Cynthia Curry Maria Daniela D'Agostino Nataliya Di Donato Laurence Faivre Delphine Héron A Micheil Innes Bertrand Isidor Boris Keren Amy Kimball Eric W Klee Paul Kuentz Sébastien Küry Dominique Martin-Coignard Ghayda Mirzaa Cyril Mignot Noriko Miyake Naomichi Matsumoto Atsushi Fujita Caroline Nava Mathilde Nizon Diana Rodriguez Lot Snijders Blok Christel Thauvin-Robinet Julien Thevenon Marie Vincent Alban Ziegler William Dobyns Linda J Richards A James Barkovich Stephen N Floor Debra L Silver Elliott H Sherr

Neuron 2020 05 4;106(3):404-420.e8. Epub 2020 Mar 4.

Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address:

View Article and Find Full Text PDF

May 2020

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.

Authors:

Dominika Oziębło Anna Sarosiak Marcin L Leja Birgit S Budde Grażyna Tacikowska Nataliya Di Donato Hanno J Bolz Peter Nürnberg Henryk Skarżyński Monika Ołdak

J Transl Med 2019 10 26;17(1):351. Epub 2019 Oct 26.

Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, M. Mochnackiego 10, 02-042, Warsaw, Poland.

View Article and Find Full Text PDF

October 2019

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Am J Hum Genet 2019 11 3;105(5):987-995. Epub 2019 Oct 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan. Electronic address:

View Article and Find Full Text PDF

November 2019

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Am J Hum Genet 2019 10;105(4):844-853

Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA. Electronic address:

View Article and Find Full Text PDF

October 2019

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Am J Hum Genet 2019 07 20;105(1):213-220. Epub 2019 Jun 20.

Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany. Electronic address:

View Article and Find Full Text PDF

July 2019

Parental mosaicism in epilepsies due to alleged de novo variants.

Authors:

Rikke S Møller Nora Liebmann Line H G Larsen Mathias Stiller Julia Hentschel Nahrain Kako Dalia Abdin Nataliya Di Donato Deb K Pal Pia Zacher Steffen Syrbe Hans A Dahl Johannes R Lemke

Epilepsia 2019 06 11;60(6):e63-e66. Epub 2019 May 11.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

View Article and Find Full Text PDF

June 2019

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Am J Hum Genet 2019 02 3;104(2):203-212. Epub 2019 Jan 3.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany.

View Article and Find Full Text PDF

February 2019

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.

Authors:

Svenja Alter Alrun Hotz Arne Jahn Nataliya Di Donato Evelin Schröck Martin Smitka Maja von der Hagen Jens Schallner Mario Menschikowski Claus Gillitzer Martin W Laass Judith Fischer Andreas Tzschach

Am J Med Genet A 2018 12 18;176(12):2862-2866. Epub 2018 Dec 18.

Institute of Clinical Genetics, Technische Universität Dresden, Dresden, Germany.

View Article and Find Full Text PDF

December 2018

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Nat Commun 2018 11 19;9(1):4930. Epub 2018 Nov 19.

Institute for Clinical Genetics, TU Dresden, 01307, Dresden, Germany.

View Article and Find Full Text PDF

November 2018

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Nat Commun 2018 10 12;9(1):4250. Epub 2018 Oct 12.

Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.

View Article and Find Full Text PDF

October 2018

Diagnostic value of partial exome sequencing in developmental disorders.

PLoS One 2018 9;13(8):e0201041. Epub 2018 Aug 9.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Dresden, Technische Universität Dresden, Germany.

View Article and Find Full Text PDF

February 2019

Further delineation of Malan syndrome.

Authors:

Manuela Priolo Denny Schanze Katrin Tatton-Brown Paul A Mulder Jair Tenorio Kreepa Kooblall Inés Hernández Acero Fowzan S Alkuraya Pedro Arias Laura Bernardini Emilia K Bijlsma Trevor Cole Christine Coubes Irene Dapia Sally Davies Nataliya Di Donato Nursel H Elcioglu Jill A Fahrner Alison Foster Noelia García González Ilka Huber Maria Iascone Ann-Sophie Kaiser Arveen Kamath Jan Liebelt Sally Ann Lynch Saskia M Maas Corrado Mammì Inge B Mathijssen Shane McKee Leonie A Menke Ghayda M Mirzaa Tara Montgomery Dorothee Neubauer Thomas E Neumann Letizia Pintomalli Maria Antonietta Pisanti Astrid S Plomp Sue Price Claire Salter Fernando Santos-Simarro Pierre Sarda Mabel Segovia Charles Shaw-Smith Sarah Smithson Mohnish Suri Rita Maria Valdez Arie Van Haeringen Johanna M Van Hagen Marcela Zollino Pablo Lapunzina Rajesh V Thakker Martin Zenker Raoul C Hennekam

Hum Mutat 2018 09 25;39(9):1226-1237. Epub 2018 Jun 25.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article and Find Full Text PDF

September 2018

Novel truncating PPM1D mutation in a patient with intellectual disability.

Authors:

Joseph Porrmann Andreas Rump Karl Hackmann Nataliya Di Donato Anne-Karin Kahlert Johannes Wagner Arne Jahn Ines Eger Monika Flury Evelin Schrock Andreas Tzschach Laura Gieldon

Eur J Med Genet 2019 Jan 11;62(1):70-72. Epub 2018 May 11.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany. Electronic address:

View Article and Find Full Text PDF

January 2019

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Authors:

Stefanie Brock Katrien Stouffs Emmanuel Scalais Marc D'Hooghe Kathelijn Keymolen Renzo Guerrini William B Dobyns Nataliya Di Donato Anna C Jansen

Eur J Hum Genet 2018 08 30;26(8):1132-1142. Epub 2018 Apr 30.

Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.

View Article and Find Full Text PDF

August 2018

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Genet Med 2018 11 19;20(11):1354-1364. Epub 2018 Apr 19.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.

View Article and Find Full Text PDF

November 2018

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Authors:

Tobias Eisenberger Nataliya Di Donato Christian Decker Andrea Delle Vedove Christine Neuhaus Gudrun Nürnberg Mohammad Toliat Peter Nürnberg Dirk Mürbe Hanno Jörn Bolz

Genet Med 2018 06 12;20(6):614-621. Epub 2017 Oct 12.

Bioscientia Center for Human Genetics, Ingelheim, Germany.

View Article and Find Full Text PDF

June 2018

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.

Authors:

Lisa Schmelzer Martin Smitka Christine Wolf Nadja Lucas Victoria Tüngler Gabriele Hahn Andreas Tzschach Nataliya Di Donato Min Ae Lee-Kirsch Maja von der Hagen

Eur J Paediatr Neurol 2018 Jan 22;22(1):186-189. Epub 2017 Nov 22.

Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, 01307 Dresden, Germany. Electronic address:

View Article and Find Full Text PDF

January 2018

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

Authors:

Laura Gieldon Luisa Mackenroth Elitza Betcheva-Krajcir Andreas Rump Stefanie Beck-Wödl Jens Schallner Nataliya Di Donato Evelin Schröck Andreas Tzschach

Am J Med Genet A 2017 Sep 4;173(9):2545-2550. Epub 2017 Aug 4.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

View Article and Find Full Text PDF

September 2017

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

Authors:

Joseph Porrmann Elitza Betcheva-Krajcir Nataliya Di Donato Anne-Karin Kahlert Jens Schallner Andreas Rump Evelin Schröck Doreen Dobritzsch Jeroen Roelofsen André B P van Kuilenburg Andreas Tzschach

Am J Med Genet A 2017 Oct 25;173(10):2736-2742. Epub 2017 Jul 25.

Institut für Klinische Genetik, Technische Universität Dresden, Dresden, Germany.

View Article and Find Full Text PDF

October 2017

Pierpont syndrome: report of a new patient.

Authors:

Anne-Karin Kahlert Sabine Weidensee Luisa Mackenroth Joseph Porrmann Andreas Rump Nataliya Di Donato Evelin Schröck Andreas Tzschach

Clin Dysmorphol 2017 Oct;26(4):205-208

aInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden bDepartment of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel cMitteldeutscher Praxisverbund Humangenetik, Praxis Erfurt, Erfurt, Germany.

View Article and Find Full Text PDF

October 2017

Lissencephaly: Expanded imaging and clinical classification.

Authors:

Nataliya Di Donato Sara Chiari Ghayda M Mirzaa Kimberly Aldinger Elena Parrini Carissa Olds A James Barkovich Renzo Guerrini William B Dobyns

Am J Med Genet A 2017 Jun 25;173(6):1473-1488. Epub 2017 Apr 25.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

View Article and Find Full Text PDF

June 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Authors:

Konrad Platzer Hongjie Yuan Hannah Schütz Alexander Winschel Wenjuan Chen Chun Hu Hirofumi Kusumoto Henrike O Heyne Katherine L Helbig Sha Tang Marcia C Willing Brad T Tinkle Darius J Adams Christel Depienne Boris Keren Cyril Mignot Eirik Frengen Petter Strømme Saskia Biskup Dennis Döcker Tim M Strom Heather C Mefford Candace T Myers Alison M Muir Amy LaCroix Lynette Sadleir Ingrid E Scheffer Eva Brilstra Mieke M van Haelst Jasper J van der Smagt Levinus A Bok Rikke S Møller Uffe B Jensen John J Millichap Anne T Berg Ethan M Goldberg Isabelle De Bie Stephanie Fox Philippe Major Julie R Jones Elaine H Zackai Rami Abou Jamra Arndt Rolfs Richard J Leventer John A Lawson Tony Roscioli Floor E Jansen Emmanuelle Ranza Christian M Korff Anna-Elina Lehesjoki Carolina Courage Tarja Linnankivi Douglas R Smith Christine Stanley Mark Mintz Dianalee McKnight Amy Decker Wen-Hann Tan Mark A Tarnopolsky Lauren I Brady Markus Wolff Lutz Dondit Helio F Pedro Sarah E Parisotto Kelly L Jones Anup D Patel David N Franz Rena Vanzo Elysa Marco Judith D Ranells Nataliya Di Donato William B Dobyns Bodo Laube Stephen F Traynelis Johannes R Lemke

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

View Article and Find Full Text PDF

July 2017

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.

Authors:

Anna Podolska Albrecht Kobelt Sigrid Fuchs Karl Hackmann Andreas Rump Evelin Schröck Kerstin Kutsche Nataliya Di Donato

Am J Med Genet A 2017 May 31;173(5):1334-1341. Epub 2017 Mar 31.

Institute for Clinical Genetics, TU Dresden, Dresden, Germany.

View Article and Find Full Text PDF

May 2017

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

PLoS Genet 2017 03 27;13(3):e1006683. Epub 2017 Mar 27.

Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article and Find Full Text PDF

March 2017

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

Authors:

Burkhard S Kasper Arnd Dörfler Nataliya Di Donato Ekkehard M Kasper Dagmar Wieczorek Juliane Hoyer Christiane Zweier

Epilepsy Behav 2017 04 23;69:104-109. Epub 2017 Feb 23.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

View Article and Find Full Text PDF

April 2017

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

Authors:

Matthias Rath Stefanie Spiegler Neetika Nath Konrad Schwefel Nataliya Di Donato Johannes Gerber G Christoph Korenke Yorck Hellenbroich Ute Hehr Stephanie Gross Ulrich Sure Barbara Zoll Eberhard Gilberg Lars Kaderali Ute Felbor

Mol Genet Genomic Med 2017 Jan 20;5(1):21-27. Epub 2016 Dec 20.

Department of Human Genetics University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics University of Greifswald Greifswald Germany.

View Article and Find Full Text PDF

January 2017

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Authors:

Gianina Ravenscroft Nataliya Di Donato Gabriele Hahn Mark R Davis Paul D Craven Gemma Poke Katherine R Neas Teresa M Neuhann William B Dobyns Nigel G Laing

Neuromuscul Disord 2016 11 19;26(11):744-748. Epub 2016 Sep 19.

Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia.

View Article and Find Full Text PDF

November 2016

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

Am J Hum Genet 2016 Nov 20;99(5):1117-1129. Epub 2016 Oct 20.

Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA. Electronic address:

View Article and Find Full Text PDF

November 2016

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Authors:

Karl Hackmann Franziska Kuhlee Elitza Betcheva-Krajcir Anne-Karin Kahlert Luisa Mackenroth Barbara Klink Nataliya Di Donato Andreas Tzschach Karin Kast Pauline Wimberger Evelin Schrock Andreas Rump

Breast Cancer Res Treat 2016 Oct 31;159(3):585-90. Epub 2016 Aug 31.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

View Article and Find Full Text PDF

October 2016

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Hum Mutat 2016 09 7;37(9):847-64. Epub 2016 Jul 7.

Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.

View Article and Find Full Text PDF

September 2016

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Authors:

Nataliya Di Donato Alma Kuechler Samantha Vergano Wolfram Heinritz Joann Bodurtha Sabiha R Merchant Galen Breningstall Roger Ladda Susan Sell Janine Altmüller Nina Bögershausen Andrew E Timms Karl Hackmann Evelin Schrock Sarah Collins Carissa Olds Andreas Rump William B Dobyns

Am J Med Genet A 2016 10 30;170(10):2644-51. Epub 2016 May 30.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

View Article and Find Full Text PDF

October 2016

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

Authors:

Maria Dehmel Sebastian Brenner Meinolf Suttorp Gabriele Hahn Heike Schützle Jürgen Dinger Nataliya Di Donato Luisa Mackenroth Maja von der Hagen

Neuropediatrics 2016 Jun 7;47(3):182-6. Epub 2016 Mar 7.

Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße, Dresden, Germany.

View Article and Find Full Text PDF

June 2016

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

J Med Genet 2016 06 3;53(6):419-25. Epub 2016 Feb 3.

Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany.

View Article and Find Full Text PDF

June 2016

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Authors:

Nataliya Di Donato Andreas Rump Ghayda M Mirzaa Diana Alcantara Antony Oliver Evelin Schrock William B Dobyns Mark O'Driscoll

Hum Mutat 2016 Mar 15;37(3):242-5. Epub 2015 Dec 15.

Genome Damage & Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton, UK.

View Article and Find Full Text PDF

March 2016

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Authors:

Karl Hackmann Andreas Rump Stefan A Haas Johannes R Lemke Jean-Pierre Fryns Andreas Tzschach Dagmar Wieczorek Beate Albrecht Alma Kuechler Tim Ripperger Albrecht Kobelt Konrad Oexle Sigrid Tinschert Evelin Schrock Vera M Kalscheuer Nataliya Di Donato

Am J Med Genet A 2016 Jan 11;170A(1):94-102. Epub 2015 Sep 11.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany.

View Article and Find Full Text PDF

January 2016

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.

Authors:

Luisa Mackenroth Karl Hackmann Anke Beyer Jens Schallner Barbara Novotna Barbara Klink Evelin Schröck Nataliya Di Donato

Am J Med Genet A 2015 Nov 3;167A(11):2800-7. Epub 2015 Sep 3.

Institut f, ü, r Klinische Genetik, Medizinische Fakult, ä, t Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

View Article and Find Full Text PDF

November 2015

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

Authors:

Lot Snijders Blok Erik Madsen Jane Juusola Christian Gilissen Diana Baralle Margot R F Reijnders Hanka Venselaar Céline Helsmoortel Megan T Cho Alexander Hoischen Lisenka E L M Vissers Tom S Koemans Willemijn Wissink-Lindhout Evan E Eichler Corrado Romano Hilde Van Esch Connie Stumpel Maaike Vreeburg Eric Smeets Karin Oberndorff Bregje W M van Bon Marie Shaw Jozef Gecz Eric Haan Melanie Bienek Corinna Jensen Bart L Loeys Anke Van Dijck A Micheil Innes Hilary Racher Sascha Vermeer Nataliya Di Donato Andreas Rump Katrina Tatton-Brown Michael J Parker Alex Henderson Sally A Lynch Alan Fryer Alison Ross Pradeep Vasudevan Usha Kini Ruth Newbury-Ecob Kate Chandler Alison Male Sybe Dijkstra Jolanda Schieving Jacques Giltay Koen L I van Gassen Janneke Schuurs-Hoeijmakers Perciliz L Tan Igor Pediaditakis Stefan A Haas Kyle Retterer Patrick Reed Kristin G Monaghan Eden Haverfield Marvin Natowicz Angela Myers Michael C Kruer Quinn Stein Kevin A Strauss Karlla W Brigatti Katherine Keating Barbara K Burton Katherine H Kim Joel Charrow Jennifer Norman Audrey Foster-Barber Antonie D Kline Amy Kimball Elaine Zackai Margaret Harr Joyce Fox Julie McLaughlin Kristin Lindstrom Katrina M Haude Kees van Roozendaal Han Brunner Wendy K Chung R Frank Kooy Rolph Pfundt Vera Kalscheuer Sarju G Mehta Nicholas Katsanis Tjitske Kleefstra

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

View Article and Find Full Text PDF

August 2015

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

Authors:

Christian Beste Sebastian Ocklenburg Maja von der Hagen Nataliya Di Donato

Brain Struct Funct 2016 06 1;221(5):2487-91. Epub 2015 May 1.

Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany.

View Article and Find Full Text PDF

June 2016

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Authors:

Sorina M Papuc Karl Hackmann Joris Andrieux Catherine Vincent-Delorme Magdalena Budişteanu Aurora Arghir Evelin Schrock Andreea C Ţuţulan-Cuniţă Nataliya Di Donato

Eur J Med Genet 2015 May 6;58(5):319-23. Epub 2015 Apr 6.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, TU Dresden, Dresden, Germany.

View Article and Find Full Text PDF

May 2015

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Eur J Med Genet 2015 May 16;58(5):279-92. Epub 2015 Mar 16.

Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands. Electronic address:

View Article and Find Full Text PDF

May 2015