Nataliya Di Donato

Nataliya Di Donato

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Nataliya Di Donato

Nataliya Di Donato

Publications by authors named "Nataliya Di Donato"

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

Authors:
Sarah K Fiordaliso Aiko Iwata-Otsubo Alyssa L Ritter Mathieu Quesnel-Vallières Katsunori Fujiki Eriko Nishi Miroslava Hancarova Noriko Miyake Jenny E V Morton Sangmoon Lee Karl Hackmann Masashige Bando Koji Masuda Ryuichiro Nakato Michiko Arakawa Elizabeth Bhoj Dong Li Hakon Hakonarson Ryojun Takeda Margaret Harr Beth Keena Elaine H Zackai Nobuhiko Okamoto Seiji Mizuno Jung Min Ko Alica Valachova Darina Prchalova Marketa Vlckova Tommaso Pippucci Christoph Seiler Murim Choi Naomichi Matsumoto Nataliya Di Donato Yoseph Barash Zdenek Sedlacek Katsuhiko Shirahige Kosuke Izumi

Am J Hum Genet 2019 Nov 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:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848994PMC
November 2019

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

Authors:
Sangmoon Lee Dillon Y Chen Maha S Zaki Reza Maroofian Henry Houlden Nataliya Di Donato Dalia Abdin Heba Morsy Ghayda M Mirzaa William B Dobyns Jennifer McEvoy-Venneri Valentina Stanley Kiely N James Grazia M S Mancini Rachel Schot Tugba Kalayci Umut Altunoglu Ehsan Ghayoor Karimiani Lauren Brick Mariya Kozenko Yalda Jamshidi M Chiara Manzini Mehran Beiraghi Toosi Joseph G Gleeson

Am J Hum Genet 2019 Oct;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:

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http://dx.doi.org/10.1016/j.ajhg.2019.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817548PMC
October 2019

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 Oct 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.

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http://dx.doi.org/10.1186/s12967-019-2099-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815010PMC
October 2019

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Authors:
Marija Dulovic-Mahlow Joanne Trinh Krishna Kumar Kandaswamy Geir Julius Braathen Nataliya Di Donato Elisa Rahikkala Skadi Beblo Martin Werber Victor Krajka Øyvind L Busk Hauke Baumann Nouriya Abbas Al-Sannaa Frauke Hinrichs Rabea Affan Nir Navot Mohammed A Al Balwi Gabriela Oprea Øystein L Holla Maximilian E R Weiss Rami A Jamra Anne-Karin Kahlert Shivendra Kishore Kristian Tveten Melissa Vos Arndt Rolfs Katja Lohmann

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

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

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http://dx.doi.org/10.1016/j.ajhg.2019.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612514PMC
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 Jun 11;60(6):e63-e66. Epub 2019 May 11.

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

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http://dx.doi.org/10.1111/epi.15187DOI Listing
June 2019

Diagnostic value of partial exome sequencing in developmental disorders.

Authors:
Laura Gieldon Luisa Mackenroth Anne-Karin Kahlert Johannes R Lemke Joseph Porrmann Jens Schallner Maja von der Hagen Susanne Markus Sabine Weidensee Barbara Novotna Charlotte Soerensen Barbara Klink Johannes Wagner Andreas Tzschach Arne Jahn Franziska Kuhlee Karl Hackmann Evelin Schrock Nataliya Di Donato Andreas Rump

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.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0201041PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084857PMC
February 2019

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

Authors:
Konrad Platzer Heinrich Sticht Stacey L Edwards William Allen Kaitlin M Angione Maria T Bonati Campbell Brasington Megan T Cho Laurie A Demmer Tzipora Falik-Zaccai Candace N Gamble Yorck Hellenbroich Maria Iascone Fernando Kok Sonal Mahida Hanna Mandel Thorsten Marquardt Kirsty McWalter Bianca Panis Alexander Pepler Hailey Pinz Luiza Ramos Deepali N Shinde Constance Smith-Hicks Alexander P A Stegmann Petra Stöbe Constance T R M Stumpel Carolyn Wilson Johannes R Lemke Nataliya Di Donato Kenneth G Miller Rami Jamra

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.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183045
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http://dx.doi.org/10.1016/j.ajhg.2018.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369540PMC
February 2019

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:

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http://dx.doi.org/10.1016/j.ejmg.2018.05.006DOI Listing
January 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.

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http://doi.wiley.com/10.1002/ajmg.a.40634
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http://dx.doi.org/10.1002/ajmg.a.40634DOI Listing
December 2018

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

Authors:
Nataliya Di Donato Andrew E Timms Kimberly A Aldinger Ghayda M Mirzaa James T Bennett Sarah Collins Carissa Olds Davide Mei Sara Chiari Gemma Carvill Candace T Myers Jean-Baptiste Rivière Maha S Zaki Joseph G Gleeson Andreas Rump Valerio Conti Elena Parrini M Elizabeth Ross David H Ledbetter Renzo Guerrini William B Dobyns

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.

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http://dx.doi.org/10.1038/gim.2018.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195491PMC
November 2018

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

Authors:
Sharissa L Latham Nadja Ehmke Patrick Y A Reinke Manuel H Taft Dorothee Eicke Theresia Reindl Werner Stenzel Michael J Lyons Michael J Friez Jennifer A Lee Ramona Hecker Michael C Frühwald Kerstin Becker Teresa M Neuhann Denise Horn Evelin Schrock Indra Niehaus Katharina Sarnow Konrad Grützmann Luzie Gawehn Barbara Klink Andreas Rump Christine Chaponnier Constanca Figueiredo Ralf Knöfler Dietmar J Manstein Nataliya Di Donato

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

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

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http://www.nature.com/articles/s41467-018-07404-6
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http://dx.doi.org/10.1038/s41467-018-07404-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6242816PMC
November 2018

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

Authors:
Sharissa L Latham Nadja Ehmke Patrick Y A Reinke Manuel H Taft Dorothee Eicke Theresia Reindl Werner Stenzel Michael J Lyons Michael J Friez Jennifer A Lee Ramona Hecker Michael C Frühwald Kerstin Becker Teresa M Neuhann Denise Horn Evelin Schrock Indra Niehaus Katharina Sarnow Konrad Grützmann Luzie Gawehn Barbara Klink Andreas Rump Christine Chaponnier Constanca Figueiredo Ralf Knöfler Dietmar J Manstein Nataliya Di Donato

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

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

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http://dx.doi.org/10.1038/s41467-018-06713-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185941PMC
October 2018

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.

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http://dx.doi.org/10.1002/humu.23563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175110PMC
September 2018

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.

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http://dx.doi.org/10.1038/s41431-018-0146-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057922PMC
August 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.

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http://dx.doi.org/10.1038/gim.2017.155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993672PMC
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:

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http://dx.doi.org/10.1016/j.ejpn.2017.11.003DOI Listing
January 2018

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.

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http://dx.doi.org/10.1097/MCD.0000000000000184DOI Listing
October 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.

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http://dx.doi.org/10.1002/ajmg.a.38359DOI Listing
October 2017

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.

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http://dx.doi.org/10.1002/ajmg.a.38348DOI Listing
September 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.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 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.

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http://dx.doi.org/10.1002/ajmg.a.38245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526446PMC
June 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.

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http://dx.doi.org/10.1002/ajmg.a.38183DOI Listing
May 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.

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http://dx.doi.org/10.1016/j.yebeh.2017.01.022DOI Listing
April 2017

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

Authors:
Rocio Acuna-Hidalgo Pelagia Deriziotis Marloes Steehouwer Christian Gilissen Sarah A Graham Sipko van Dam Julie Hoover-Fong Aida B Telegrafi Anne Destree Robert Smigiel Lindsday A Lambie Hülya Kayserili Umut Altunoglu Elisabetta Lapi Maria Luisa Uzielli Mariana Aracena Banu G Nur Ercan Mihci Lilia M A Moreira Viviane Borges Ferreira Dafne D G Horovitz Katia M da Rocha Aleksandra Jezela-Stanek Alice S Brooks Heiko Reutter Julie S Cohen Ali Fatemi Martin Smitka Theresa A Grebe Nataliya Di Donato Charu Deshpande Anthony Vandersteen Charles Marques Lourenço Andreas Dufke Eva Rossier Gwenaelle Andre Alessandra Baumer Careni Spencer Julie McGaughran Lude Franke Joris A Veltman Bert B A De Vries Albert Schinzel Simon E Fisher Alexander Hoischen Bregje W van Bon

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.

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http://dx.doi.org/10.1371/journal.pgen.1006683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386295PMC
March 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.

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http://dx.doi.org/10.1002/mgg3.256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241208PMC
January 2017

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

Authors:
Nataliya Di Donato Ying Y Jean A Murat Maga Briana D Krewson Alison B Shupp Maria I Avrutsky Achira Roy Sarah Collins Carissa Olds Rebecca A Willert Agnieszka M Czaja Rachel Johnson Jessi A Stover Steven Gottlieb Deborah Bartholdi Anita Rauch Amy Goldstein Victoria Boyd-Kyle Kimberly A Aldinger Ghayda M Mirzaa Anke Nissen Karlla W Brigatti Erik G Puffenberger Kathleen J Millen Kevin A Strauss William B Dobyns Carol M Troy Robert N Jinks

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:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097945PMC
November 2016

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.

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http://dx.doi.org/10.1016/j.nmd.2016.09.009DOI Listing
November 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.

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http://dx.doi.org/10.1002/ajmg.a.37771DOI Listing
October 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.

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http://dx.doi.org/10.1007/s10549-016-3956-zDOI Listing
October 2016

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

Authors:
Nina Bögershausen Vincent Gatinois Vera Riehmer Hülya Kayserili Jutta Becker Michaela Thoenes Pelin Özlem Simsek-Kiper Mouna Barat-Houari Nursel H Elcioglu Dagmar Wieczorek Sigrid Tinschert Guillaume Sarrabay Tim M Strom Aurélie Fabre Gareth Baynam Elodie Sanchez Gudrun Nürnberg Umut Altunoglu Yline Capri Bertrand Isidor Didier Lacombe Carole Corsini Valérie Cormier-Daire Damien Sanlaville Fabienne Giuliano Kim-Hanh Le Quan Sang Honorine Kayirangwa Peter Nürnberg Thomas Meitinger Koray Boduroglu Barbara Zoll Stanislas Lyonnet Andreas Tzschach Alain Verloes Nataliya Di Donato Isabelle Touitou Christian Netzer Yun Li David Geneviève Gökhan Yigit Bernd Wollnik

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

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

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http://dx.doi.org/10.1002/humu.23026DOI Listing
September 2016

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.

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http://dx.doi.org/10.1007/s00429-015-1051-6DOI Listing
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.

Authors:
Nataliya Di Donato Teresa Neuhann Anne-Karin Kahlert Barbara Klink Karl Hackmann Irmingard Neuhann Barbora Novotna Jens Schallner Claudia Krause Ian A Glass Shawn E Parnell Anna Benet-Pages Anke M Nissen Wolfgang Berger Janine Altmüller Holger Thiele Bernhard H F Weber Evelin Schrock William B Dobyns Andrea Bier Andreas Rump

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.

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http://dx.doi.org/10.1136/jmedgenet-2015-103511DOI Listing
June 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.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0036-1578799
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http://dx.doi.org/10.1055/s-0036-1578799DOI Listing
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.

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http://dx.doi.org/10.1002/humu.22933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752430PMC
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.

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http://dx.doi.org/10.1002/ajmg.a.37378DOI Listing
January 2016

Next-generation sequencing in X-linked intellectual disability.

Authors:
Andreas Tzschach Ute Grasshoff Stefanie Beck-Woedl Claudia Dufke Claudia Bauer Martin Kehrer Christina Evers Ute Moog Barbara Oehl-Jaschkowitz Nataliya Di Donato Robert Maiwald Christine Jung Alma Kuechler Solveig Schulz Peter Meinecke Stephanie Spranger Jürgen Kohlhase Jörg Seidel Silke Reif Manuela Rieger Angelika Riess Marc Sturm Julia Bickmann Christopher Schroeder Andreas Dufke Olaf Riess Peter Bauer

Eur J Hum Genet 2015 Nov 4;23(11):1513-8. Epub 2015 Feb 4.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613482PMC
November 2015

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.

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http://dx.doi.org/10.1002/ajmg.a.37266DOI Listing
November 2015

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

Authors:
Brigitte Schlegelberger Hans Kreipe Ulrich Lehmann Doris Steinemann Tim Ripperger Gudrun Göhring Kathrin Thomay Andreas Rump Nataliya Di Donato Meinolf Suttorp

Pediatr Blood Cancer 2015 Aug 18;62(8):1481-4. Epub 2015 Mar 18.

Department of Pediatric Hematology and Oncology, University Hospital Dresden, Germany.

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http://dx.doi.org/10.1002/pbc.25486DOI Listing
August 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:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

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

Authors:
Saskia M Maas Adam C Shaw Hennie Bikker Hermann-Josef Lüdecke Karin van der Tuin Magdalena Badura-Stronka Elga Belligni Elisa Biamino Maria Teresa Bonati Daniel R Carvalho JanMaarten Cobben Stella A de Man Nicolette S Den Hollander Nataliya Di Donato Livia Garavelli Sabine Grønborg Johanna C Herkert A Jeannette M Hoogeboom Aleksander Jamsheer Anna Latos-Bielenska Anneke Maat-Kievit Cinzia Magnani Carlo Marcelis Inge B Mathijssen Maartje Nielsen Ellen Otten Lilian B Ousager Jacek Pilch Astrid Plomp Gemma Poke Anna Poluha Renata Posmyk Claudine Rieubland Margharita Silengo Marleen Simon Elisabeth Steichen Connie Stumpel Katalin Szakszon Edit Polonkai Jenneke van den Ende Antony van der Steen Ton van Essen Arie van Haeringen Johanna M van Hagen Joke B G M Verheij Marcel M Mannens Raoul C Hennekam

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:

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http://dx.doi.org/10.1016/j.ejmg.2015.03.002DOI Listing
May 2015

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.

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http://dx.doi.org/10.1016/j.ejmg.2015.03.005DOI Listing
May 2015

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Authors:
Alain Verloes Nataliya Di Donato Julien Masliah-Planchon Marjolijn Jongmans Omar A Abdul-Raman Beate Albrecht Judith Allanson Han Brunner Debora Bertola Nicolas Chassaing Albert David Koen Devriendt Pirayeh Eftekhari Valérie Drouin-Garraud Francesca Faravelli Laurence Faivre Fabienne Giuliano Leina Guion Almeida Jorge Juncos Marlies Kempers Hatice Koçak Eker Didier Lacombe Angela Lin Grazia Mancini Daniela Melis Charles Marques Lourenço Victoria Mok Siu Gilles Morin Marjan Nezarati Malgorzata J M Nowaczyk Jeanette C Ramer Sara Osimani Nicole Philip Mary Ella Pierpont Vincent Procaccio Zeichi-Seide Roseli Massimiliano Rossi Cristina Rusu Yves Sznajer Ludivine Templin Vera Uliana Mirjam Klaus Bregje Van Bon Conny Van Ravenswaaij Bruce Wainer Andrew E Fry Andreas Rump Alexander Hoischen Séverine Drunat Jean-Baptiste Rivière William B Dobyns Daniela T Pilz

Eur J Hum Genet 2015 Mar 23;23(3):292-301. Epub 2014 Jul 23.

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

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http://dx.doi.org/10.1038/ejhg.2014.95DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326722PMC
March 2015

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

Authors:
Christiane Zweier Olaf Rittinger Ingrid Bader Siren Berland Trevor Cole Franziska Degenhardt Nataliya Di Donato Luitgard Graul-Neumann Juliane Hoyer Sally Ann Lynch Ingrid Vlasak Dagmar Wieczorek

Am J Med Genet C Semin Med Genet 2014 Sep 5;166C(3):290-301. Epub 2014 Aug 5.

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http://dx.doi.org/10.1002/ajmg.c.31408DOI Listing
September 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Authors:
Frank J Kaiser Morad Ansari Diana Braunholz María Concepción Gil-Rodríguez Christophe Decroos Jonathan J Wilde Christopher T Fincher Maninder Kaur Masashige Bando David J Amor Paldeep S Atwal Melanie Bahlo Christine M Bowman Jacquelyn J Bradley Han G Brunner Dinah Clark Miguel Del Campo Nataliya Di Donato Peter Diakumis Holly Dubbs David A Dyment Juliane Eckhold Sarah Ernst Jose C Ferreira Lauren J Francey Ulrike Gehlken Encarna Guillén-Navarro Yolanda Gyftodimou Bryan D Hall Raoul Hennekam Louanne Hudgins Melanie Hullings Jennifer M Hunter Helger Yntema A Micheil Innes Antonie D Kline Zita Krumina Hane Lee Kathleen Leppig Sally Ann Lynch Mark B Mallozzi Linda Mannini Shane McKee Sarju G Mehta Ieva Micule Shehla Mohammed Ellen Moran Geert R Mortier Joe-Ann S Moser Sarah E Noon Naohito Nozaki Luis Nunes John G Pappas Lynette S Penney Antonio Pérez-Aytés Michael B Petersen Beatriz Puisac Nicole Revencu Elizabeth Roeder Sulagna Saitta Angela E Scheuerle Karen L Schindeler Victoria M Siu Zornitza Stark Samuel P Strom Heidi Thiese Inga Vater Patrick Willems Kathleen Williamson Louise C Wilson Hakon Hakonarson Fabiola Quintero-Rivera Jolanta Wierzba Antonio Musio Gabriele Gillessen-Kaesbach Feliciano J Ramos Laird G Jackson Katsuhiko Shirahige Juan Pié David W Christianson Ian D Krantz David R Fitzpatrick Matthew A Deardorff

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.

Authors:
Tobias Eisenberger Nataliya Di Donato Shahid M Baig Christine Neuhaus Anke Beyer Eva Decker Dirk Mürbe Christian Decker Carsten Bergmann Hanno J Bolz

Hum Mutat 2014 May 31;35(5):565-70. Epub 2014 Mar 31.

Center for Human Genetics, Ingelheim, Germany.

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http://dx.doi.org/10.1002/humu.22532DOI Listing
May 2014

Clinical phenotypes of MAGEL2 mutations and deletions.

Authors:
Karin Buiting Nataliya Di Donato Jasmin Beygo Susanne Bens Maja von der Hagen Karl Hackmann Bernhard Horsthemke

Orphanet J Rare Dis 2014 Mar 25;9:40. Epub 2014 Mar 25.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1186/1750-1172-9-40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987887PMC
March 2014

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

Authors:
Silvia Cappello Mary J Gray Caroline Badouel Simona Lange Melanie Einsiedler Myriam Srour David Chitayat Fadi F Hamdan Zandra A Jenkins Tim Morgan Nadia Preitner Tami Uster Jackie Thomas Patrick Shannon Victoria Morrison Nataliya Di Donato Lionel Van Maldergem Teresa Neuhann Ruth Newbury-Ecob Marielle Swinkells Paulien Terhal Louise C Wilson Petra J G Zwijnenburg Andrew J Sutherland-Smith Michael A Black David Markie Jacques L Michaud Michael A Simpson Sahar Mansour Helen McNeill Magdalena Götz Stephen P Robertson

Nat Genet 2013 Nov 22;45(11):1300-8. Epub 2013 Sep 22.

Helmholtz Center Munich, German Research Center for Environmental Health, Institute for Stem Cell Research, Neuherberg, Germany.

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http://dx.doi.org/10.1038/ng.2765DOI Listing
November 2013

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.

Authors:
Karl Hackmann Sarah Matko Eva-Maria Gerlach Maja von der Hagen Barbara Klink Evelin Schrock Andreas Rump Nataliya Di Donato

Eur J Hum Genet 2013 Jan 6;21(1):112-4. Epub 2012 Jun 6.

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

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http://dx.doi.org/10.1038/ejhg.2012.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522202PMC
January 2013

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Authors:
Kerstin Becker Nataliya Di Donato Muriel Holder-Espinasse Joris Andrieux Jean-Marie Cuisset Louis Vallée Ghislaine Plessis Nolwenn Jean Bruno Delobel Ann-Charlotte Thuresson Göran Annerén Kirstine Ravn Zeynep Tümer Sigrid Tinschert Evelin Schrock Aia Elise Jønch Karl Hackmann

Eur J Med Genet 2012 Aug-Sep;55(8-9):490-7. Epub 2012 Apr 12.

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

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http://dx.doi.org/10.1016/j.ejmg.2012.03.003DOI Listing
November 2012

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Authors:
Anita Rauch Dagmar Wieczorek Elisabeth Graf Thomas Wieland Sabine Endele Thomas Schwarzmayr Beate Albrecht Deborah Bartholdi Jasmin Beygo Nataliya Di Donato Andreas Dufke Kirsten Cremer Maja Hempel Denise Horn Juliane Hoyer Pascal Joset Albrecht Röpke Ute Moog Angelika Riess Christian T Thiel Andreas Tzschach Antje Wiesener Eva Wohlleber Christiane Zweier Arif B Ekici Alexander M Zink Andreas Rump Christa Meisinger Harald Grallert Heinrich Sticht Annette Schenck Hartmut Engels Gudrun Rappold Evelin Schröck Peter Wieacker Olaf Riess Thomas Meitinger André Reis Tim M Strom

Lancet 2012 Nov 27;380(9854):1674-82. Epub 2012 Sep 27.

Institute of Medical Genetics, University of Zurich, Schwerzenbach-Zurich, Switzerland.

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http://dx.doi.org/10.1016/S0140-6736(12)61480-9DOI Listing
November 2012

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

Authors:
Matthew A Deardorff Masashige Bando Ryuichiro Nakato Erwan Watrin Takehiko Itoh Masashi Minamino Katsuya Saitoh Makiko Komata Yuki Katou Dinah Clark Kathryn E Cole Elfride De Baere Christophe Decroos Nataliya Di Donato Sarah Ernst Lauren J Francey Yolanda Gyftodimou Kyotaro Hirashima Melanie Hullings Yuuichi Ishikawa Christian Jaulin Maninder Kaur Tohru Kiyono Patrick M Lombardi Laura Magnaghi-Jaulin Geert R Mortier Naohito Nozaki Michael B Petersen Hiroyuki Seimiya Victoria M Siu Yutaka Suzuki Kentaro Takagaki Jonathan J Wilde Patrick J Willems Claude Prigent Gabriele Gillessen-Kaesbach David W Christianson Frank J Kaiser Laird G Jackson Toru Hirota Ian D Krantz Katsuhiko Shirahige

Nature 2012 Sep;489(7415):313-7

Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/nature11316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443318PMC
September 2012