Jozef Gecz

Affiliations
  • Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia, 5000, Australia. Electronic address: jozef.gecz@adelaide.edu.au.

Publications (86)

Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.

European journal of medical genetics
Avec: Renee Carroll , Marie Shaw , Maria Arvio , Alison Gardner , Raman Kumar , Bree Hodgson , Sarah Heron , Fiona McKenzie , Irma Järvelä ,

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

American journal of human genetics
Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , Mouna Barat-Houari , Nathalie Ruiz-Pallares , Jean-Christophe Andrau , Didier Lacombe , Julien Van-Gils , Patricia Fergelot , Christèle Dubourg , Valerie Cormier-Daire , Sophie Rondeau , François Lecoquierre , Pascale Saugier-Veber , Gaël Nicolas , Gaetan Lesca , Nicolas Chatron , Damien Sanlaville , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet , Frederic Laumonnier , Martine Raynaud , Mariëlle Alders , Marcel Mannens , Peter Henneman , Raoul C Hennekam , Guillaume Velasco , Claire Francastel , Damien Ulveling , Andrea Ciolfi , Simone Pizzi , Marco Tartaglia , Solveig Heide , Delphine Héron , Cyril Mignot , Boris Keren , Sandra Whalen , Alexandra Afenjar , Thierry Bienvenu , Philippe M Campeau , Justine Rousseau , Michael A Levy , Lauren Brick , Mariya Kozenko , Tugce B Balci , Victoria Mok Siu , Alan Stuart , Mike Kadour , Jennifer Masters , Kyoko Takano , Tjitske Kleefstra , Nicole de Leeuw , Michael Field , Marie Shaw , Peter J Ainsworth , Hanxin Lin , David I Rodenhiser , Michael J Friez , Matt Tedder , Jennifer A Lee , Barbara R DuPont , Roger E Stevenson , Steven A Skinner , Charles E Schwartz , David Genevieve , Bekim Sadikovic

X-linked intellectual disability: Phenotypic expression in carrier females.

Clinical genetics
Avec: Catherine A Ziats , Charles E Schwartz , Marie Shaw , Michael J Field , Roger E Stevenson , Giovanni Neri

Heterozygous loss of function of

Life science alliance
Avec: Matilda R Jackson , Karagh E Loring , Claire C Homan , Monica Hn Thai , Laura Määttänen , Maria Arvio , Irma Jarvela , Marie Shaw , Alison Gardner , Cheryl Shoubridge

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.

Journal of child neurology
Avec: Alastair H MacLennan , Sara Lewis , Andres Moreno-De-Luca , Michael Fahey , Richard J Leventer , Sarah McIntyre , Hilla Ben-Pazi , Mark Corbett , Xiaoyang Wang , Gareth Baynam , Darcy Fehlings , Manju A Kurian , Changlian Zhu , Kate Himmelmann , Hayley Smithers-Sheedy , Yana Wilson , Carlos Santos Ocaña , Clare van Eyk , Nadia Badawi , Richard F Wintle , Bo Jacobsson , David J Amor , Carina Mallard , Luis A Pérez-Jurado , Mikko Hallman , Peter J Rosenbaum , Michael C Kruer ,

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.

Human molecular genetics
Avec: Wujood Khayat , Anna Hackett , Marie Shaw , Alina Ilie , Tracy Dudding-Byth , Vera M Kalscheuer , Louise Christie , Mark A Corbett , Jane Juusola , Kathryn L Friend , Brian M Kirmse , Michael Field , John Orlowski

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Frontiers in molecular neuroscience
Avec: Raman Kumar , Elizabeth Palmer , Alison E Gardner , Renee Carroll , Siddharth Banka , Ola Abdelhadi , Dian Donnai , Ype Elgersma , Cynthia J Curry , Alice Gardham , Mohnish Suri , Rishikesh Malla , Lauren Ilana Brady , Mark Tarnopolsky , Dimitar N Azmanov , Vanessa Atkinson , Michael Black , Gareth Baynam , Lauren Dreyer , Robin Z Hayeems , Christian R Marshall , Gregory Costain , Marja W Wessels , Julia Baptista , James Drummond , Melanie Leffler , Michael Field ,

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

European journal of human genetics : EJHG
Avec: Sandra Whalen , Marie Shaw , Cyril Mignot , Delphine Héron , Sandra Chantot Bastaraud , Cecile Cieuta Walti , Jan Liebelt , Frances Elmslie , Patrick Yap , Jane Hurst , Elisabeth Forsythe , Brian Kirmse , Jillian Ozmore , Alessandro Mauro Spinelli , Olga Calabrese , Thierry Billette de Villemeur , Anne Claude Tabet , Jonathan Levy , Agnes Guet , Manoëlle Kossorotoff , Benjamin Kamien , Jenny Morton , Anne McCabe , Elise Brischoux-Boucher , Annick Raas-Rothschild , Antonella Pini , Renée Carroll , Jessica N Hartley , Auteur inconnu , Patrick Frosk , Anne Slavotinek , Kristen Truxal , Carroll Jennifer , Annelies Dheedene , Hong Cui , Vishal Kumar , Glen Thomson , Florence Riccardi , Laurent Villard

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.

Human mutation
Avec: Michael J Field , Raman Kumar , Anna Hackett , Sayaka Kayumi , Cheryl A Shoubridge , Lisa J Ewans , Atma M Ivancevic , Tracy Dudding-Byth , Renée Carroll , Thessa Kroes , Alison E Gardner , Patricia Sullivan , Thuong T Ha , Charles E Schwartz , Mark J Cowley , Marcel E Dinger , Elizabeth E Palmer , Louise Christie , Marie Shaw , Tony Roscioli , Mark A Corbett

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.

NPJ genomic medicine
Avec: Raman Kumar , Mark A Corbett , Nicholas J C Smith , Daniella H Hock , Zoya Kikhtyak , Liana N Semcesen , Atsushi Morimoto , Sangmoon Lee , David A Stroud , Joseph G Gleeson , Eric A Haan ,

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Nature communications
Avec: Elsa Leitão , Christopher Schröder , Ilaria Parenti , Carine Dalle , Agnès Rastetter , Theresa Kühnel , Alma Kuechler , Sabine Kaya , Bénédicte Gérard , Elise Schaefer , Caroline Nava , Nathalie Drouot , Camille Engel , Juliette Piard , Bénédicte Duban-Bedu , Laurent Villard , Alexander P A Stegmann , Els K Vanhoutte , Job A J Verdonschot , Frank J Kaiser , Frédéric Tran Mau-Them , Marcello Scala , Pasquale Striano , Suzanna G M Frints , Emanuela Argilli , Elliott H Sherr , Fikret Elder , Julien Buratti , Boris Keren , Cyril Mignot , Delphine Héron , Jean-Louis Mandel , Vera M Kalscheuer , Bernhard Horsthemke , Amélie Piton , Christel Depienne

Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy.

Epilepsy research
Avec: Joseph Sullivan , Boudewijn Gunning , Muhammad Zafar , Renzo Guerrini , Kristy L Kolc , Yufan Zhao , Maciej Gasior , Alex A Aimetti , Debopam Samanta

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

American journal of human genetics
Avec: Zornitza Stark , Tiffany Boughtwood , Matilda Haas , Jeffrey Braithwaite , Clara L Gaff , Ilias Goranitis , Amanda B Spurdle , David P Hansen , Oliver Hofmann , Nigel Laing , Sylvia Metcalfe , Ainsley J Newson , Hamish S Scott , Natalie Thorne , Robyn L Ward , Marcel E Dinger , Stephanie Best , Janet C Long , Sean M Grimmond , John Pearson , Nicola Waddell , Christopher P Barnett , Matthew Cook , Michael Field , David Fielding , Stephen B Fox , Adam Jaffe , Richard J Leventer , Paul J Lockhart , Sebastian Lunke , Andrew J Mallett , Julie McGaughran , Linda Mileshkin , Katia Nones , Tony Roscioli , Ingrid E Scheffer , Christopher Semsarian , Cas Simons , David M Thomas , David R Thorburn , Richard Tothill , Deborah White , Sally Dunwoodie , Peter T Simpson , Peta Phillips , Marie-Jo Brion , Keri Finlay , Michael Cj Quinn , Tessa Mattiske , Emma Tudini , Kirsten Boggs , Sean Murray , Kathy Wells , John Cannings , Andrew H Sinclair , John Christodoulou , Kathryn N North

RNA variant assessment using transactivation and transdifferentiation.

American journal of human genetics
Avec: Emmylou C Nicolas-Martinez , Olivia Robinson , Christian Pflueger , Alison Gardner , Mark A Corbett , Tarin Ritchie , Thessa Kroes , Clare L van Eyk , Ingrid E Scheffer , Michael S Hildebrand , Jean-Vianney Barnier , Véronique Rousseau , David Genevieve , Virginie Haushalter , Amélie Piton , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Sophie Nambot , Bertrand Isidor , John Grigg , Tina Gonzalez , Sondhya Ghedia , Rhett G Marchant , Adam Bournazos , Wui-Kwan Wong , Richard I Webster , Frances J Evesson , Kristi J Jones , Auteur inconnu , Sandra T Cooper , Ryan Lister , Lachlan A Jolly

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nature communications
Avec: Tianyun Wang , Kendra Hoekzema , Davide Vecchio , Huidan Wu , Arvis Sulovari , Bradley P Coe , Madelyn A Gillentine , Amy B Wilfert , Luis A Perez-Jurado , Malin Kvarnung , Yoeri Sleyp , Rachel K Earl , Jill A Rosenfeld , Madeleine R Geisheker , Lin Han , Bing Du , Chris Barnett , Elizabeth Thompson , Marie Shaw , Renee Carroll , Kathryn Friend , Rachael Catford , Elizabeth E Palmer , Xiaobing Zou , Jianjun Ou , Honghui Li , Hui Guo , Jennifer Gerdts , Emanuela Avola , Giuseppe Calabrese , Maurizio Elia , Donatella Greco , Anna Lindstrand , Ann Nordgren , Britt-Marie Anderlid , Geert Vandeweyer , Anke Van Dijck , Nathalie Van der Aa , Brooke McKenna , Miroslava Hancarova , Sarka Bendova , Marketa Havlovicova , Giovanni Malerba , Bernardo Dalla Bernardina , Pierandrea Muglia , Arie van Haeringen , Mariette J V Hoffer , Barbara Franke , Gerarda Cappuccio , Martin Delatycki , Paul J Lockhart , Melanie A Manning , Pengfei Liu , Ingrid E Scheffer , Nicola Brunetti-Pierri , Nanda Rommelse , David G Amaral , Gijs W E Santen , Elisabetta Trabetti , Zdeněk Sedláček , Jacob J Michaelson , Karen Pierce , Eric Courchesne , R Frank Kooy , Auteur inconnu , Magnus Nordenskjöld , Corrado Romano , Hilde Peeters , Raphael A Bernier , Kun Xia , Evan E Eichler

Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.

American journal of medical genetics. Part A
Avec: Alexander J M Dingemans , Diante E Stremmelaar , Lisenka E L M Vissers , Sandra Jansen , Maria J Nabais Sá , Angela van Remortele , Noraly Jonis , Kim Truijen , Sam van de Ven , Jeroen Ewals , Michel Verbruggen , David A Koolen , Han G Brunner , Evan E Eichler , Bert B A de Vries

A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract.

European journal of human genetics : EJHG
Avec: Johanna L Jones , Mark A Corbett , Elise Yeaman , Duran Zhao , Robert J Gasperini , Jac C Charlesworth , David A Mackey , James E Elder , Jamie E Craig , Kathryn P Burdon

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Nature communications
Avec: Hui Guo , Elisa Bettella , Paul C Marcogliese , Rongjuan Zhao , Jonathan C Andrews , Tomasz J Nowakowski , Madelyn A Gillentine , Kendra Hoekzema , Tianyun Wang , Huidan Wu , Sharayu Jangam , Cenying Liu , Hailun Ni , Marjolein H Willemsen , Bregje W van Bon , Tuula Rinne , Servi J C Stevens , Tjitske Kleefstra , Han G Brunner , Helger G Yntema , Min Long , Wenjing Zhao , Zhengmao Hu , Cindy Colson , Nicolas Richard , Charles E Schwartz , Corrado Romano , Lucia Castiglia , Maria Bottitta , Shweta U Dhar , Deanna J Erwin , Lisa Emrick , Boris Keren , Alexandra Afenjar , Baosheng Zhu , Bing Bai , Pawel Stankiewicz , Kristin Herman , Auteur inconnu , Saadet Mercimek-Andrews , Jane Juusola , Amy B Wilfert , Rami Abou Jamra , Benjamin Büttner , Heather C Mefford , Alison M Muir , Ingrid E Scheffer , Brigid M Regan , Stephen Malone , Jan Cobben , Marjan M Weiss , Quinten Waisfisz , Emilia K Bijlsma , Mariëtte J V Hoffer , Claudia A L Ruivenkamp , Stefano Sartori , Fan Xia , Jill A Rosenfeld , Raphael A Bernier , Michael F Wangler , Shinya Yamamoto , Kun Xia , Alexander P A Stegmann , Hugo J Bellen , Alessandra Murgia , Evan E Eichler

'Big issues' in neurodevelopment for children and adults with congenital heart disease.

Open heart
Avec: Charlotte E Verrall , Gillian M Blue , Alison Loughran-Fowlds , Nadine Kasparian , Karen Walker , Sally L Dunwoodie , Rachael Cordina , Gary Sholler , Nadia Badawi , David Winlaw

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.

Human molecular genetics
Avec: Francesca Mattioli , Bertrand Isidor , Omar Abdul-Rahman , Andrew Gunter , Lijia Huang , Raman Kumar , Chandree Beaulieu , Micheil Innes , Jean-Louis Mandel , Amélie Piton

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review.

Developmental medicine and child neurology
Avec: Ryan Pham , Ben W Mol , Alastair H MacLennan , Suzanna C MacLennan , Mark A Corbett , Clare L van Eyk , Dani L Webber , Lyle J Palmer , Jesia G Berry

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.

European journal of human genetics : EJHG
Avec: Veronica M Pravata , Michaela Omelková , Marios P Stavridis , Chelsea M Desbiens , Hannah M Stephen , Dirk J Lefeber , Mehmet Gundogdu , Katrin Õunap , Shelagh Joss , Charles E Schwartz , Lance Wells , Daan M F van Aalten

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

American journal of human genetics
Avec: Elodie M Richard , Somayeh Bakhtiari , Ashley P L Marsh , Rauan Kaiyrzhanov , Matias Wagner , Sheetal Shetty , Alex Pagnozzi , Sandra M Nordlie , Brandon S Guida , Patricia Cornejo , Helen Magee , James Liu , Bethany Y Norton , Richard I Webster , Lisa Worgan , Hakon Hakonarson , Jiankang Li , Yiran Guo , Mahim Jain , Alyssa Blesson , Lance H Rodan , Mary-Alice Abbott , Anne Comi , Julie S Cohen , Bader Alhaddad , Thomas Meitinger , Dominic Lenz , Andreas Ziegler , Urania Kotzaeridou , Theresa Brunet , Anna Chassevent , Constance Smith-Hicks , Joseph Ekstein , Tzvi Weiden , Andreas Hahn , Nazira Zharkinbekova , Peter Turnpenny , Arianna Tucci , Melissa Yelton , Rita Horvath , Serdal Gungor , Semra Hiz , Yavuz Oktay , Hanns Lochmuller , Marcella Zollino , Manuela Morleo , Giuseppe Marangi , Vincenzo Nigro , Annalaura Torella , Michele Pinelli , Simona Amenta , Ralf A Husain , Benita Grossmann , Marion Rapp , Claudia Steen , Iris Marquardt , Mona Grimmel , Ute Grasshoff , G Christoph Korenke , Marta Owczarek-Lipska , John Neidhardt , Francesca Clementina Radio , Cecilia Mancini , Dianela Judith Claps Sepulveda , Kirsty McWalter , Amber Begtrup , Amy Crunk , Maria J Guillen Sacoto , Richard Person , Rhonda E Schnur , Maria Margherita Mancardi , Florian Kreuder , Pasquale Striano , Federico Zara , Wendy K Chung , Warren A Marks , Clare L van Eyk , Dani L Webber , Mark A Corbett , Kelly Harper , Jesia G Berry , Alastair H MacLennan , Marco Tartaglia , Vincenzo Salpietro , John Christodoulou , Jan Kaslin , Sergio Padilla-Lopez , Kaya Bilguvar , Alexander Munchau , Zubair M Ahmed , Robert B Hufnagel , Michael C Fahey , Reza Maroofian , Henry Houlden , Heinrich Sticht , Shrikant M Mane , Aboulfazl Rad , Barbara Vona , Sheng Chih Jin , Tobias B Haack , Christine Makowski , Yoel Hirsch , Saima Riazuddin , Michael C Kruer

People with Cerebral Palsy and Their Family's Preferences about Genomics Research.

Public health genomics
Avec: Yana Alexandra Wilson , Sarah McIntyre , Emma Waight , Marelle Thornton , Saskia van Otterloo , Sophie Rachel Marmont , Michael Kruer , Gareth Baynam , Nadia Badawi

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

American journal of human genetics
Avec: Alina Kurolap , Florian Kreuder , Claudia Gonzaga-Jauregui , Morasha Plesser Duvdevani , Tamar Harel , Luna Tammer , Baozhong Xin , Somayeh Bakhtiari , James Rice , Clare L van Eyk , Jean K Mah , Derek Atkinson , Heidi Cope , Jennifer A Sullivan , Alon M Douek , Daniel Colquhoun , Jason Henry , Donald Wlodkowic , Yesim Parman , Ayşe Candayan , Elif Kocasoy-Orhan , Anat Ilivitzki , Shiri Soudry , Rina Leibu , Fabian Glaser , Valerie Sency , Auteur inconnu , Gil Ast , Vandana Shashi , Michael C Fahey , Esra Battaloğlu , Albena Jordanova , Vardiella Meiner , A Micheil Innes , Heng Wang , Orly Elpeleg , Michael C Kruer , Jan Kaslin , Hagit Baris Feldman

The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders.

Biological psychiatry
Avec: Lachlan A Jolly , Raman Kumar , Peter Penzes , Michael Piper ,

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

American journal of human genetics
Avec: James L Shepherdson , Katie Hutchison , Dilan Wellalage Don , George McGillivray , Tae-Ik Choi , Carolyn A Allan , David J Amor , Siddharth Banka , Donald G Basel , Laura D Buch , Deanna Alexis Carere , Renée Carroll , Jill Clayton-Smith , Ali Crawford , Morten Dunø , Laurence Faivre , Christopher P Gilfillan , Nina B Gold , Karen W Gripp , Emma Hobson , Alexander M Holtz , A Micheil Innes , Bertrand Isidor , Adam Jackson , Panagiotis Katsonis , Leila Amel Riazat Kesh , Auteur inconnu , Sébastien Küry , François Lecoquierre , Paul Lockhart , Julien Maraval , Naomichi Matsumoto , Julie McCarrier , Josephine McCarthy , Noriko Miyake , Lip Hen Moey , Andrea H Németh , Elsebet Østergaard , Rushina Patel , Kate Pope , Jennifer E Posey , Rhonda E Schnur , Marie Shaw , Elliot Stolerman , Julie P Taylor , Erin Wadman , Emma Wakeling , Susan M White , Lawrence C Wong , James R Lupski , Olivier Lichtarge , Mark A Corbett , Charles M Nicolet , Peggy J Farnham , Cheol-Hee Kim , Marwan Shinawi

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Human mutation
Avec: Michael A Levy , Raissa Relator , Haley McConkey , Erinija Pranckeviciene , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Marco Ferilli , Robin S Fletcher , Florian Cherick , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie R Pallares , Maria Piccione , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella M Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce B Balci , Siddharth Banka , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , Dominique Campion , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , David Genevieve , Delphine Heron , Thomas Husson , Kristin D Kernohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Marie Vincent , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.

Nature medicine
Avec: Yangong Wang , Yiran Xu , Chongchen Zhou , Ye Cheng , Niu Qiao , Qing Shang , Lei Xia , Juan Song , Chao Gao , Yimeng Qiao , Xiaoli Zhang , Ming Li , Caiyun Ma , Yangyi Fan , Xirui Peng , Silin Wu , Nan Lv , Bingbing Li , Yanyan Sun , Bohao Zhang , Tongchuan Li , Hongwei Li , Jin Zhang , Yu Su , Qiaoli Li , Junying Yuan , Lei Liu , Andres Moreno-De-Luca , Alastair H MacLennan , Dengna Zhu , Xiaoyang Wang , Changlian Zhu , Qinghe Xing

Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines.

STAR protocols
Avec: Raman Kumar , Karthik S Kamath , Luke Carroll , Peter Hoffmann , Lachlan A Jolly

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Human genetics
Avec: Charlotte Herbst , Viktoria Bothe , Meret Wegler , Susanne Axer-Schaefer , Séverine Audebert-Bellanger , Benjamin Cogne , Hagit Baris Feldman , Anselm H C Horn , Anna C E Hurst , Melissa A Kelly , Michael C Kruer , Alina Kurolap , Annie Laquerriere , Megan Li , Paul R Mark , Markus Morawski , Mathilde Nizon , Tomi Pastinen , Tilman Polster , Pascale Saugier-Veber , Jang SeSong , Heinrich Sticht , Jens T Stieler , Isabelle Thifffault , Clare L van Eyk , Pascale Marcorelles , Myriam Vezain-Mouchard , Rami Abou Jamra , Henry Oppermann

Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.

Epigenomics
Avec: Mohammed Alshawsh , Melissa Wake , Mark Corbett , Richard Saffery , James Pitt , Ronda Greaves , Katrina Williams , Michael Field , Jeanie Cheong , Minh Bui , Sheena Arora , Simon Sadedin , Sebastian Lunke , Meg Wall , David J Amor , David E Godler

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

Human molecular genetics
Avec: Loredana Poeta , Agnese Padula , Benedetta Attianese , Mariaelena Valentino , Lucia Verrillo , Stefania Filosa , Cheryl Shoubridge , Adriano Barra , Charles E Schwartz , Jesper Christensen , Hans van Bokhoven , Kristian Helin , Maria Brigida Lioi , Patrick Collombat , Lucia Altucci , Elia Di Schiavi , Maria Giuseppina Miano

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

Molecular genetics & genomic medicine
Avec: Siddharth Srivastava , Tejasvi Niranjan , Melanie M May , Patrick Tarpey , William Allen , Anna Hackett , Pierre-Simon Jouk , Lucy Raymond , Slyvain Briault , Cindy Skinner , Annick Toutain , William Heath , Roger E Stevenson , Charles E Schwartz , Tao Wang

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.

Molecular psychiatry
Avec: Kristy L Kolc , Lynette G Sadleir , Ingrid E Scheffer , Atma Ivancevic , Rachel Roberts , Duyen H Pham ,

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

Human mutation
Avec: Angélique Quartier , Jérémie Courraud , Thuong Thi Ha , George McGillivray , Bertrand Isidor , Katherine Rose , Nathalie Drouot , Marie-Armel Savidan , Claire Feger , Hélène Jagline , Jamel Chelly , Marie Shaw , Frédéric Laumonnier , Jean-Louis Mandel , Amélie Piton

Disruptive variants of

Science advances
Avec: Hui Guo , Ying Li , Lu Shen , Tianyun Wang , Xiangbin Jia , Lijuan Liu , Tao Xu , Mengzhu Ou , Kendra Hoekzema , Huidan Wu , Madelyn A Gillentine , Cenying Liu , Hailun Ni , Pengwei Peng , Rongjuan Zhao , Yu Zhang , Chanika Phornphutkul , Alexander P A Stegmann , Carlos E Prada , Robert J Hopkin , Joseph T Shieh , Kirsty McWalter , Kristin G Monaghan , Peter M van Hasselt , Koen van Gassen , Ting Bai , Min Long , Lin Han , Yingting Quan , Meilin Chen , Yaowen Zhang , Kuokuo Li , Qiumeng Zhang , Jieqiong Tan , Tengfei Zhu , Yaning Liu , Nan Pang , Jing Peng , Daryl A Scott , Seema R Lalani , Mahshid Azamian , Grazia M S Mancini , Darius J Adams , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jonathan Pevsner , Ikeoluwa A Osei-Owusu , Corrado Romano , Giuseppe Calabrese , Ornella Galesi , Eric Haan , Judith Ranells , Melissa Racobaldo , Magnus Nordenskjold , Suneeta Madan-Khetarpal , Jessica Sebastian , Susie Ball , Xiaobing Zou , Jingping Zhao , Zhengmao Hu , Fan Xia , Pengfei Liu , Jill A Rosenfeld , Bert B A de Vries , Raphael A Bernier , Zhi-Qing David Xu , Honghui Li , Wei Xie , Robert B Hufnagel , Evan E Eichler , Kun Xia

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Neurology
Avec: Michael S Hildebrand , Victoria E Jackson , Thomas S Scerri , Olivia Van Reyk , Matthew Coleman , Ruth O Braden , Samantha Turner , Kristin A Rigbye , Amber Boys , Sarah Barton , Richard Webster , Michael Fahey , Kerryn Saunders , Bronwyn Parry-Fielder , Georgia Paxton , Michael Hayman , David Coman , Himanshu Goel , Anne Baxter , Alan Ma , Noni Davis , Sheena Reilly , Martin Delatycki , Frederique J Liégeois , Alan Connelly , Simon E Fisher , David J Amor , Ingrid E Scheffer , Melanie Bahlo , Angela T Morgan

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

NPJ genomic medicine
Avec: C L van Eyk , D L Webber , A E Minoche , L A Pérez-Jurado , M A Corbett , A E Gardner , J G Berry , K Harper , A H MacLennan , J Gecz

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nature communications
Avec: Tianyun Wang , Kendra Hoekzema , Davide Vecchio , Huidan Wu , Arvis Sulovari , Bradley P Coe , Madelyn A Gillentine , Amy B Wilfert , Luis A Perez-Jurado , Malin Kvarnung , Yoeri Sleyp , Rachel K Earl , Jill A Rosenfeld , Madeleine R Geisheker , Lin Han , Bing Du , Chris Barnett , Elizabeth Thompson , Marie Shaw , Renee Carroll , Kathryn Friend , Rachael Catford , Elizabeth E Palmer , Xiaobing Zou , Jianjun Ou , Honghui Li , Hui Guo , Jennifer Gerdts , Emanuela Avola , Giuseppe Calabrese , Maurizio Elia , Donatella Greco , Anna Lindstrand , Ann Nordgren , Britt-Marie Anderlid , Geert Vandeweyer , Anke Van Dijck , Nathalie Van der Aa , Brooke McKenna , Miroslava Hancarova , Sarka Bendova , Marketa Havlovicova , Giovanni Malerba , Bernardo Dalla Bernardina , Pierandrea Muglia , Arie van Haeringen , Mariette J V Hoffer , Barbara Franke , Gerarda Cappuccio , Martin Delatycki , Paul J Lockhart , Melanie A Manning , Pengfei Liu , Ingrid E Scheffer , Nicola Brunetti-Pierri , Nanda Rommelse , David G Amaral , Gijs W E Santen , Elisabetta Trabetti , Zdeněk Sedláček , Jacob J Michaelson , Karen Pierce , Eric Courchesne , R Frank Kooy , Auteur inconnu , Magnus Nordenskjöld , Corrado Romano , Hilde Peeters , Raphael A Bernier , Kun Xia , Evan E Eichler

In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.

Brain : a journal of neurology
Avec: Na Li , Pei Zhou , Hongmei Tang , Lu He , Xiang Fang , Jinxiang Zhao , Xin Wang , Yifei Qi , Chuanbo Sun , Yunting Lin , Fengying Qin , Miaomiao Yang , Zhan Zhang , Caihua Liao , Shuxin Zheng , Xiaofang Peng , Ting Xue , Qianying Zhu , Hong Li , Yan Li , Liru Liu , Jingyu Huang , Li Liu , Changgeng Peng , Angela M Kaindl , Dingding Han , Dong Liu , Kaishou Xu , Hao Hu

Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion properties.

Open biology
Avec: Stefka Mincheva-Tasheva , Chandran Pfitzner , Raman Kumar , Idha Kurtsdotter , Michaela Scherer , Tarin Ritchie , Jonas Muhr , Paul Q Thomas

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.

Molecular psychiatry
Avec: Rebekah de Nys , Alison Gardner , Clare van Eyk , Stefka Mincheva-Tasheva , Paul Thomas , Rudrarup Bhattacharjee , Lachlan Jolly , Isabel Martinez-Garay , Ian W J Fox , Karthik Shantharam Kamath , Raman Kumar ,

Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.

Translational psychiatry
Avec: Rebekah de Nys , Clare L van Eyk , Tarin Ritchie , Rikke S Møller , Ingrid E Scheffer , Carla Marini , Rudrarup Bhattacharjee , Raman Kumar ,

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sayaka Kayumi , Luis A Pérez-Jurado , María Palomares , Sneha Rangu , Sarah E Sheppard , Wendy K Chung , Michael C Kruer , Mira Kharbanda , David J Amor , George McGillivray , Julie S Cohen , Sixto García-Miñaúr , Clare L van Eyk , Kelly Harper , Lachlan A Jolly , Dani L Webber , Christopher P Barnett , Fernando Santos-Simarro , Marta Pacio-Míguez , Angela Del Pozo , Somayeh Bakhtiari , Matthew Deardorff , Holly A Dubbs , Kosuke Izumi , Katheryn Grand , Christopher Gray , Paul R Mark , Elizabeth J Bhoj , Dong Li , Xilma R Ortiz-Gonzalez , Beth Keena , Elaine H Zackai , Ethan M Goldberg , Guiomar Perez de Nanclares , Arrate Pereda , Isabel Llano-Rivas , Ignacio Arroyo , María Ángeles Fernández-Cuesta , Christel Thauvin-Robinet , Laurence Faivre , Aurore Garde , Benoit Mazel , Ange-Line Bruel , Michael L Tress , Eva Brilstra , Amena Smith Fine , Kylie E Crompton , Alexander P A Stegmann , Margje Sinnema , Servi C J Stevens , Joost Nicolai , Gaetan Lesca , Laurence Lion-François , Damien Haye , Nicolas Chatron , Amelie Piton , Mathilde Nizon , Benjamin Cogne , Siddharth Srivastava , Jennifer Bassetti , Candace Muss , Karen W Gripp , Rebecca A Procopio , Francisca Millan , Michelle M Morrow , Melissa Assaf , Andres Moreno-De-Luca , Shelagh Joss , Mark J Hamilton , Marta Bertoli , Nicola Foulds , Shane McKee , Alastair H MacLennan , Mark A Corbett

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

Epilepsia
Avec: Mark A Corbett , Christel Depienne , Liana Veneziano , Karl Martin Klein , Francesco Brancati , Renzo Guerrini , Federico Zara , Shoji Tsuji ,

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Human molecular genetics
Avec: Klaas Koop , Weimin Yuan , Federico Tessadori , Wilmer R Rodriguez-Polanco , Jeremy Grubbs , Bo Zhang , Matt Osmond , Gail Graham , Sarah Sawyer , Erin Conboy , Francesco Vetrini , Kayla Treat , Rafal Płoski , Victor Murcia Pienkowski , Anna Kłosowska , Elizabeth Fieg , Joel Krier , Coralie Mallebranche , Ziegler Alban , Kimberly A Aldinger , Deborah Ritter , Ellen Macnamara , Bonnie Sullivan , John Herriges , Joseph T Alaimo , Catherine Helbig , Colin A Ellis , Clare van Eyk , Daniel Farrugia , Ikeoluwa Osei-Owusu , Lesley Adès , Marie-Jose van den Boogaard , Sabine Fuchs , Jeroen Bakker , Karen Duran , Zachary D Dawson , Anika Lindsey , Huiyan Huang , Dustin Baldridge , Gary A Silverman , Barth D Grant , David Raizen , Auteur inconnu , Gijs van Haaften , Stephen C Pak , Holger Rehmann , Tim Schedl , Peter van Hasselt

Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology.

Nature reviews. Neurology
Avec: Clare L van Eyk , Michael C Fahey ,

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Journal of child neurology
Avec: Yana A Wilson , Natasha Garrity , Hayley Smithers-Sheedy , Shona Goldsmith , Tasneem Karim , Georgina Henry , Simon Paget , Maria Kyriagis , Nadia Badawi , Gareth Baynam , Sarah McIntyre

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.

Translational psychiatry
Avec: Kristy L Kolc , Lynette G Sadleir , Christel Depienne , Carla Marini , Ingrid E Scheffer , Rikke S Møller , Marina Trivisano , Nicola Specchio , Duyen Pham , Raman Kumar , Rachel Roberts ,

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.

European journal of human genetics : EJHG
Avec: Mark F Bennett , Karen L Oliver , Brigid M Regan , Susannah T Bellows , Amy L Schneider , Haloom Rafehi , Neblina Sikta , Douglas E Crompton , Matthew Coleman , Michael S Hildebrand , Mark A Corbett , Thessa Kroes , Ingrid E Scheffer , Samuel F Berkovic , Melanie Bahlo

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

NPJ genomic medicine
Avec: C L van Eyk , M A Corbett , M S B Frank , D L Webber , M Newman , J G Berry , K Harper , B P Haines , G McMichael , J A Woenig , A H MacLennan , J Gecz

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

European journal of medical genetics
Avec: Marie Shaw , Anna Winczewska-Wiktor , Magdalena Badura-Stronka , Sunita Koirala , Alison Gardner , Łukasz Kuszel , Piotr Kowal , Barbara Steinborn , Monika Starczewska , Sarah Garry , Ingrid E Scheffer , Samuel F Berkovic ,

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Nature communications
Avec: Rahel T Florian , Florian Kraft , Elsa Leitão , Sabine Kaya , Stephan Klebe , Eloi Magnin , Anne-Fleur van Rootselaar , Julien Buratti , Theresa Kühnel , Christopher Schröder , Sebastian Giesselmann , Nikolai Tschernoster , Janine Altmueller , Anaide Lamiral , Boris Keren , Caroline Nava , Delphine Bouteiller , Sylvie Forlani , Ludmila Jornea , Regina Kubica , Tao Ye , Damien Plassard , Bernard Jost , Vincent Meyer , Jean-François Deleuze , Yannick Delpu , Mario D M Avarello , Lisanne S Vijfhuizen , Gabrielle Rudolf , Edouard Hirsch , Thessa Kroes , Philipp S Reif , Felix Rosenow , Christos Ganos , Marie Vidailhet , Lionel Thivard , Alexandre Mathieu , Thomas Bourgeron , Ingo Kurth , Haloom Rafehi , Laura Steenpass , Bernhard Horsthemke , Auteur inconnu , Eric LeGuern , Karl Martin Klein , Pierre Labauge , Mark F Bennett , Melanie Bahlo , Mark A Corbett , Marina A J Tijssen , Arn M J M van den Maagdenberg , Christel Depienne

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Bettina E Mucha , Siddharth Banka , Norbert Fonya Ajeawung , Sirinart Molidperee , Gary G Chen , Mary Kay Koenig , Rhamat B Adejumo , Marianne Till , Michael Harbord , Renee Perrier , Emmanuelle Lemyre , Renee-Myriam Boucher , Brian G Skotko , Jessica L Waxler , Mary Ann Thomas , Jennelle C Hodge , Jillian Nicholl , Lesley McGregor , Tobias Linden , Sanjay M Sisodiya , Damien Sanlaville , Sau W Cheung , Carl Ernst , Philippe M Campeau

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

NPJ genomic medicine
Avec: Mark A Corbett , Clare L van Eyk , Dani L Webber , Stephen J Bent , Morgan Newman , Kelly Harper , Jesia G Berry , Dimitar N Azmanov , Karen J Woodward , Alison E Gardner , Jennie Slee , Luís A Pérez-Jurado , Alastair H MacLennan ,

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Molecular psychiatry
Avec: Suzanna G M Frints , Aysegul Ozanturk , Germán Rodríguez Criado , Ute Grasshoff , Bas de Hoon , Michael Field , Sylvie Manouvrier-Hanu , Scott E Hickey , Molka Kammoun , Karen W Gripp , Claudia Bauer , Christopher Schroeder , Annick Toutain , Theresa Mihalic Mosher , Benjamin J Kelly , Peter White , Andreas Dufke , Eveline Rentmeester , Sungjin Moon , Daniel C Koboldt , Kees E P van Roozendaal , Hao Hu , Stefan A Haas , Hans-Hilger Ropers , Lucinda Murray , Eric Haan , Marie Shaw , Renee Carroll , Kathryn Friend , Jan Liebelt , Lynne Hobson , Marjan De Rademaeker , Joep Geraedts , Jean-Pierre Fryns , Joris Vermeesch , Martine Raynaud , Olaf Riess , Joost Gribnau , Nicholas Katsanis , Koen Devriendt , Peter Bauer , Christelle Golzio , Cristina Gontan , Vera M Kalscheuer

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Nature genetics
Avec: Sheng Chih Jin , Sara A Lewis , Somayeh Bakhtiari , Xue Zeng , Michael C Sierant , Sheetal Shetty , Sandra M Nordlie , Aureliane Elie , Mark A Corbett , Bethany Y Norton , Clare L van Eyk , Shozeb Haider , Brandon S Guida , Helen Magee , James Liu , Stephen Pastore , John B Vincent , Janice Brunstrom-Hernandez , Antigone Papavasileiou , Michael C Fahey , Jesia G Berry , Kelly Harper , Chongchen Zhou , Junhui Zhang , Boyang Li , Hongyu Zhao , Jennifer Heim , Dani L Webber , Mahalia S B Frank , Lei Xia , Yiran Xu , Dengna Zhu , Bohao Zhang , Amar H Sheth , James R Knight , Christopher Castaldi , Irina R Tikhonova , Francesc López-Giráldez , Boris Keren , Sandra Whalen , Julien Buratti , Diane Doummar , Megan Cho , Kyle Retterer , Francisca Millan , Yangong Wang , Jeff L Waugh , Lance Rodan , Julie S Cohen , Ali Fatemi , Angela E Lin , John P Phillips , Timothy Feyma , Suzanna C MacLennan , Spencer Vaughan , Kylie E Crompton , Susan M Reid , Dinah S Reddihough , Qing Shang , Chao Gao , Iona Novak , Nadia Badawi , Yana A Wilson , Sarah J McIntyre , Shrikant M Mane , Xiaoyang Wang , David J Amor , Daniela C Zarnescu , Qiongshi Lu , Qinghe Xing , Changlian Zhu , Kaya Bilguvar , Sergio Padilla-Lopez , Richard P Lifton , Alastair H MacLennan , Michael C Kruer

Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics.

Current opinion in genetics & development
Avec: Paul Q Thomas

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.

Neuron
Avec: Jennifer L Johnson , Loredana Stoica , Yuwei Liu , Ping Jun Zhu , Abhisek Bhattacharya , Shelly A Buffington , Redwan Huq , N Tony Eissa , Ola Larsson , Bo T Porse , Deepti Domingo , Urwah Nawaz , Renee Carroll , Lachlan Jolly , Tom S Scerri , Hyung-Goo Kim , Amanda Brignell , Matthew J Coleman , Ruth Braden , Usha Kini , Victoria Jackson , Anne Baxter , Melanie Bahlo , Ingrid E Scheffer , David J Amor , Michael S Hildebrand , Penelope E Bonnen , Christine Beeton , Angela T Morgan , Mauro Costa-Mattioli

Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention.

International journal of molecular sciences
Avec: Rebekah de Nys , Raman Kumar ,

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

Nature communications
Avec: Salima El Chehadeh , Kyung Ah Han , Dongwook Kim , Gyubin Jang , Somayeh Bakhtiari , Dongseok Lim , Hee Young Kim , Jinhu Kim , Hyeonho Kim , Julia Wynn , Wendy K Chung , Giuseppina Vitiello , Ioana Cutcutache , Matthew Page , Kelly Harper , Ah-Reum Han , Ho Min Kim , Marja Wessels , Allan Bayat , Alberto Fernández Jaén , Angelo Selicorni , Silvia Maitz , Arjan P M de Brouwer , Anneke Vulto-van Silfhout , Martin Armstrong , Joseph Symonds , Sébastien Küry , Bertrand Isidor , Benjamin Cogné , Mathilde Nizon , Claire Feger , Jean Muller , Erin Torti , Dorothy K Grange , Marjolaine Willems , Michael C Kruer , Jaewon Ko , Amélie Piton , Ji Won Um

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Genes
Avec: Thuong T Ha , Rosemary Burgess , Morgan Newman , Ching Moey , Simone A Mandelstam , Alison E Gardner , Atma M Ivancevic , Duyen Pham , Raman Kumar , Nicholas Smith , Chirag Patel , Stephen Malone , Monique M Ryan , Sophie Calvert , Clare L van Eyk , Michael Lardelli , Samuel F Berkovic , Richard J Leventer , Linda J Richards , Ingrid E Scheffer , Mark A Corbett

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Kerith-Rae Dias , Rupendra Shrestha , Deborah Schofield , Carey-Anne Evans , Emily O'Heir , Ying Zhu , Futao Zhang , Krystle Standen , Ben Weisburd , Sarah L Stenton , Alba Sanchis-Juan , Harrison Brand , Michael E Talkowski , Alan Ma , Sondy Ghedia , Meredith Wilson , Sarah A Sandaradura , Janine Smith , Benjamin Kamien , Anne Turner , Madhura Bakshi , Lesley C Adès , David Mowat , Matthew Regan , George McGillivray , Ravi Savarirayan , Susan M White , Tiong Yang Tan , Zornitza Stark , Natasha J Brown , Luis A Pérez-Jurado , Emma Krzesinski , Matthew F Hunter , Lauren Akesson , Andrew Paul Fennell , Alison Yeung , Tiffany Boughtwood , Lisa J Ewans , Jennifer Kerkhof , Christopher Lucas , Louise Carey , Hugh French , Melissa Rapadas , Igor Stevanovski , Ira W Deveson , Corrina Cliffe , George Elakis , Edwin P Kirk , Tracy Dudding-Byth , Janice Fletcher , Rebecca Walsh , Mark A Corbett , Thessa Kroes , Cliff Meldrum , Simon Cliffe , Meg Wall , Sebastian Lunke , Kathryn North , David J Amor , Michael Field , Bekim Sadikovic , Michael F Buckley , Anne O'Donnell-Luria , Tony Roscioli

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

Brain : a journal of neurology
Avec: Angela T Morgan , Thomas S Scerri , Adam P Vogel , Christopher A Reid , Mara Quach , Victoria E Jackson , Chaseley McKenzie , Emma L Burrows , Mark F Bennett , Samantha J Turner , Sheena Reilly , Sarah E Horton , Susan Block , Elaina Kefalianos , Carlos Frigerio-Domingues , Eduardo Sainz , Kristin A Rigbye , Travis J Featherby , Kay L Richards , Andrew Kueh , Marco J Herold , Mark A Corbett , Ingo Helbig , Daisy G Y Thompson-Lake , Frédérique J Liégeois , Robert J Morell , Andrew Hung , Dennis Drayna , Ingrid E Scheffer , David K Wright , Melanie Bahlo , Michael S Hildebrand

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Nature communications
Avec: Rudrarup Bhattacharjee , Lachlan A Jolly , Mark A Corbett , Ing Chee Wee , Sushma R Rao , Alison E Gardner , Tarin Ritchie , Eline J H van Hugte , Ummi Ciptasari , Sandra Piltz , Jacqueline E Noll , Nazzmer Nazri , Clare L van Eyk , Melissa White , Dani Fornarino , Cathryn Poulton , Gareth Baynam , Lyndsey E Collins-Praino , Marten F Snel , Nael Nadif Kasri , Kim M Hemsley , Paul Q Thomas , Raman Kumar ,

The Susceptibility of Escherichia Coli to Antibiotic Treatment for Pediatric Patients With Febrile Urinary Tract Infections in the Bratislava Region.

Klinische Padiatrie
Avec: Barbora Pitekova , Patrik Konopásek , Miriama Babelova , Jakub Gecz , Kristina Hlasna , Jan Breza , Peter Barton , Jakub Zieg

A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks.

Human molecular genetics
Avec: Deepti Domingo , Urwah Nawaz , Mark Corbett , Josh L Espinoza , Katrina Tatton-Brown , David Coman , Miles F Wilkinson , Lachlan A Jolly

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Lynette G Sadleir , Kristy L Kolc , Chontelle King , Heather C Mefford , Russell C Dale , Ingrid E Scheffer

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.

Advances in experimental medicine and biology
Avec: Kristy L Kolc , Rikke S Møller , Lynette G Sadleir , Ingrid E Scheffer , Raman Kumar ,

A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.

Biochimica et biophysica acta. Molecular basis of disease
Avec: Lars R Jensen , Lillian Garrett , Sabine M Hölter , Birgit Rathkolb , Ildikó Rácz , Thure Adler , Cornelia Prehn , Wolfgang Hans , Jan Rozman , Lore Becker , Juan Antonio Aguilar-Pimentel , Oliver Puk , Kristin Moreth , Monika Dopatka , Diego J Walther , Viola von Bohlen Und Halbach , Matthias Rath , Martin Delatycki , Bettina Bert , Heidrun Fink , Katharina Blümlein , Markus Ralser , Anke Van Dijck , Frank Kooy , Zornitza Stark , Sabine Müller , Harry Scherthan , Wolfgang Wurst , Eckhard Wolf , Andreas Zimmer , Martin Klingenspor , Jochen Graw , Thomas Klopstock , Dirk Busch , Jerzy Adamski , Helmut Fuchs , Valérie Gailus-Durner , Martin Hrabě de Angelis , Oliver von Bohlen Und Halbach , Hans-Hilger Ropers , Andreas W Kuss

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nature communications
Avec: Mark A Corbett , Thessa Kroes , Liana Veneziano , Mark F Bennett , Rahel Florian , Amy L Schneider , Antonietta Coppola , Laura Licchetta , Silvana Franceschetti , Antonio Suppa , Aaron Wenger , Davide Mei , Manuela Pendziwiat , Sabine Kaya , Massimo Delledonne , Rachel Straussberg , Luciano Xumerle , Brigid Regan , Douglas Crompton , Anne-Fleur van Rootselaar , Anthony Correll , Rachael Catford , Francesca Bisulli , Shreyasee Chakraborty , Sara Baldassari , Paolo Tinuper , Kirston Barton , Shaun Carswell , Martin Smith , Alfredo Berardelli , Renee Carroll , Alison Gardner , Kathryn L Friend , Ilan Blatt , Michele Iacomino , Carlo Di Bonaventura , Salvatore Striano , Julien Buratti , Boris Keren , Caroline Nava , Sylvie Forlani , Gabrielle Rudolf , Edouard Hirsch , Eric Leguern , Pierre Labauge , Simona Balestrini , Josemir W Sander , Zaid Afawi , Ingo Helbig , Hiroyuki Ishiura , Shoji Tsuji , Sanjay M Sisodiya , Giorgio Casari , Lynette G Sadleir , Riaan van Coller , Marina A J Tijssen , Karl Martin Klein , Arn M J M van den Maagdenberg , Federico Zara , Renzo Guerrini , Samuel F Berkovic , Tommaso Pippucci , Laura Canafoglia , Melanie Bahlo , Pasquale Striano , Ingrid E Scheffer , Francesco Brancati , Christel Depienne ,

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Bettina E Mucha , Siddharth Banka , Norbert Fonya Ajeawung , Sirinart Molidperee , Gary G Chen , Mary Kay Koenig , Rhamat B Adejumo , Marianne Till , Michael Harbord , Renee Perrier , Emmanuelle Lemyre , Renee-Myriam Boucher , Brian G Skotko , Jessica L Waxler , Mary Ann Thomas , Jennelle C Hodge , Jillian Nicholl , Lesley McGregor , Tobias Linden , Sanjay M Sisodiya , Damien Sanlaville , Sau W Cheung , Carl Ernst , Philippe M Campeau

Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes.

American heart journal
Avec: Gillian M Blue , Mauk Mekel , Debjani Das , Michael Troup , Emma Rath , Eddie Ip , Mikhail Gudkov , Gopinath Perumal , Richard P Harvey , Gary F Sholler , Edwin P Kirk , Jinfen Liu , Eleni Giannoulatou , Haifa Hong , Sally L Dunwoodie , David S Winlaw

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

HGG advances
Avec: Michael A Levy , Haley McConkey , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Robin S Fletcher , Florian Cherik , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie Ruiz Pallares , Maria Piccione , Simone Pizzi , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Raissa Relator , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella Maria Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce Balci , Siddharth Banka , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , David Genevieve , Kristin D Kerrnohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.

Human molecular genetics
Avec: Raies Ahmed , Shihab Sarwar , Jinghua Hu , Valérie Cardin , Lily R Qiu , Gerardo Zapata , Lucianne Vandeleur , Keqin Yan , Jason P Lerch , Mark A Corbett , David J Picketts

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

American journal of human genetics
Avec: Elizabeth E Palmer , Renee Carroll , Marie Shaw , Raman Kumar , Andre E Minoche , Melanie Leffler , Lucinda Murray , Rebecca Macintosh , Dale Wright , Chris Troedson , Fiona McKenzie , Sharron Townshend , Michelle Ward , Urwah Nawaz , Anja Ravine , Cassandra K Runke , Erik C Thorland , Marybeth Hummel , Nicola Foulds , Olivier Pichon , Bertrand Isidor , Cédric Le Caignec , Bénédicte Demeer , Joris Andrieux , Salam Hadah Albarazi , Ann Bye , Rani Sachdev , Edwin P Kirk , Mark J Cowley , Mike Field ,

Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE).

Molecular neurobiology
Avec: Stefka Mincheva-Tasheva , Alvaro F Nieto Guil , Claire C Homan , Paul Q Thomas

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine
Avec: Madelyn A Gillentine , Tianyun Wang , Kendra Hoekzema , Jill Rosenfeld , Pengfei Liu , Hui Guo , Chang N Kim , Bert B A De Vries , Lisenka E L M Vissers , Magnus Nordenskjold , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Maria Iascone , Anna Cereda , Agnese Scatigno , Silvia Maitz , Ginevra Zanni , Enrico Bertini , Christiane Zweier , Sarah Schuhmann , Antje Wiesener , Micah Pepper , Heena Panjwani , Erin Torti , Farida Abid , Irina Anselm , Siddharth Srivastava , Paldeep Atwal , Carlos A Bacino , Gifty Bhat , Katherine Cobian , Lynne M Bird , Jennifer Friedman , Meredith S Wright , Bert Callewaert , Florence Petit , Sophie Mathieu , Alexandra Afenjar , Celenie K Christensen , Kerry M White , Orly Elpeleg , Itai Berger , Edward J Espineli , Christina Fagerberg , Charlotte Brasch-Andersen , Lars Kjærsgaard Hansen , Timothy Feyma , Susan Hughes , Isabelle Thiffault , Bonnie Sullivan , Shuang Yan , Kory Keller , Boris Keren , Cyril Mignot , Frank Kooy , Marije Meuwissen , Alice Basinger , Mary Kukolich , Meredith Philips , Lucia Ortega , Margaret Drummond-Borg , Mathilde Lauridsen , Kristina Sorensen , Anna Lehman , Auteur inconnu , Elena Lopez-Rangel , Paul Levy , Davor Lessel , Timothy Lotze , Suneeta Madan-Khetarpal , Jessica Sebastian , Jodie Vento , Divya Vats , L Manace Benman , Shane Mckee , Ghayda M Mirzaa , Candace Muss , John Pappas , Hilde Peeters , Corrado Romano , Maurizio Elia , Ornella Galesi , Marleen E H Simon , Koen L I van Gassen , Kara Simpson , Robert Stratton , Sabeen Syed , Julien Thevenon , Irene Valenzuela Palafoll , Antonio Vitobello , Marie Bournez , Laurence Faivre , Kun Xia , Auteur inconnu , Rachel K Earl , Tomasz Nowakowski , Raphael A Bernier , Evan E Eichler

A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.

American journal of human genetics
Avec: Paras Garg , Bharati Jadhav , Oscar L Rodriguez , Nihir Patel , Alejandro Martin-Trujillo , Miten Jain , Sofie Metsu , Hugh Olsen , Benedict Paten , Beate Ritz , R Frank Kooy , Andrew J Sharp

Missense variant contribution to USP9X-female syndrome.

NPJ genomic medicine
Avec: Lachlan A Jolly , Euan Parnell , Alison E Gardner , Mark A Corbett , Luis A Pérez-Jurado , Marie Shaw , Gaetan Lesca , Catherine Keegan , Michael C Schneider , Emily Griffin , Felicitas Maier , Courtney Kiss , Andrea Guerin , Kathleen Crosby , Kenneth Rosenbaum , Pranoot Tanpaiboon , Sandra Whalen , Boris Keren , Julie McCarrier , Donald Basel , Simon Sadedin , Susan M White , Martin B Delatycki , Tjitske Kleefstra , Sébastien Küry , Alfredo Brusco , Elena Sukarova-Angelovska , Slavica Trajkova , Sehoun Yoon , Stephen A Wood , Michael Piper , Peter Penzes ,

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Human mutation
Avec: Duyen H Pham , Melissa R Pitman , Raman Kumar , Lachlan A Jolly , Renee Schulz , Alison E Gardner , Rebekah de Nys , Sarah E Heron , Mark A Corbett , Kavitha Kothur , Deepak Gill , Sulekha Rajagopalan , Kristy L Kolc , Benjamin J Halliday , Stephen P Robertson , Brigid M Regan , Heidi E Kirsch , Samuel F Berkovic , Ingrid E Scheffer , Stuart M Pitson , Slave Petrovski ,

Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.

The Journal of molecular diagnostics : JMD
Avec: Timing Liu , Furene S Wang , Felicia S H Cheah , Yanghong Gu , Marie Shaw , Hai-Yang Law , Stacey K H Tay , Caroline G Lee , David L Nelson , Samuel S Chong

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

The Journal of clinical investigation
Avec: Dong Li , Qin Wang , Allan Bayat , Mark R Battig , Yijing Zhou , Daniëlle Gm Bosch , Gijs van Haaften , Leslie Granger , Andrea K Petersen , Luis A Pérez-Jurado , Gemma Aznar-Laín , Anushree Aneja , Miroslava Hancarova , Sarka Bendova , Martin Schwarz , Radka Kremlíková Pourová , Zdenek Sedlacek , Beth A Keena , Michael E March , Cuiping Hou , Nora O'Connor , Elizabeth J Bhoj , Margaret H Harr , Gabrielle Lemire , Kym M Boycott , Meghan C Towne , Megan Li , Mark Tarnopolsky , Lauren Brady , Michael J Parker , Hanna Faghfoury , Lea Kristin Parsley , Emanuele Agolini , Maria Lisa Dentici , Antonio Novelli , Meredith S Wright , Rachel Palmquist , Khanh Lai , Marcello Scala , Pasquale Striano , Michele Iacomino , Federico Zara , Annina Cooper , Timothy J Maarup , Melissa Byler , Robert Roger Lebel , Tugce B Balci , Raymond J Louie , Michael J Lyons , Jessica Douglas , Catherine B Nowak , Alexandra Afenjar , Juliane Hoyer , Boris Keren , Saskia M Maas , Mahdi M Motazacker , Julian A Martinez-Agosto , Ahna M Rabani , Elizabeth M McCormick , Marni Falk , Sarah M Ruggiero , Ingo Helbig , Rikke S Møller , Lino Tessarollo , Francesco Tomassoni-Ardori , Mary Ellen Palko , Tzung-Chien Hsieh , Peter M Krawitz , Mythily Ganapathi , Bruce D Gelb , Vaidehi Jobanputra , Ashley Wilson , John Greally , Sébastien Jacquemont , Khadijé Jizi , Bruel Ange-Line , Chloé Quelin , Vinod K Misra , Erika Chick , Corrado Romano , Donatella Greco , Alessia Arena , Manuela Morleo , Vincenzo Nigro , Rie Seyama , Yuri Uchiyama , Naomichi Matsumoto , Ryoji Taira , Katsuya Tashiro , Yasunari Sakai , Gökhan Yigit , Bernd Wollnik , Michael Wagner , Barbara Kutsche , Anna Ce Hurst , Michelle L Thompson , Ryan J Schmidt , Linda M Randolph , Rebecca C Spillmann , Vandana Shashi , Edward J Higginbotham , Dawn Cordeiro , Amanda Carnevale , Gregory Costain , Tayyaba Khan , Benoît Funalot , Frederic Tran Mau-Them , Luis Fernandez Garcia Moya , Sixto García-Miñaúr , Matthew Osmond , Lauren Chad , Nada Quercia , Diana Carrasco , Chumei Li , Amarilis Sanchez-Valle , Meghan Kelley , Mathilde Nizon , Brynjar O Jensson , Patrick Sulem , Kari Stefansson , Svetlana Gorokhova , Tiffany Busa , Marlène Rio , Hamza Hadj Abdallah , Marion Lesieur-Sebellin , Jeanne Amiel , Véronique Pingault , Sandra Mercier , Marie Vincent , Christophe Philippe , Clemence Fatus-Fauconnier , Kathryn Friend , Rebecca K Halligan , Sunita Biswas , Jane Mr Rosser , Cheryl Shoubridge , Mark A Corbett , Christopher Barnett , Kathleen A Leppig , Anne Slavotinek , Carlo Marcelis , Rolph Pfundt , Bert Ba de Vries , Marjon A van Slegtenhorst , Alice S Brooks , Benjamin Cogne , Thomas Rambaud , Zeynep Tümer , Elaine H Zackai , Naiara Akizu , Yuanquan Song , Hakon Hakonarson

The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.

Life science alliance
Avec: Mira Brazane , Dilyana G Dimitrova , Julien Pigeon , Chiara Paolantoni , Tao Ye , Virginie Marchand , Bruno Da Silva , Elise Schaefer , Margarita T Angelova , Zornitza Stark , Martin Delatycki , Tracy Dudding-Byth , Pierre-Yves Plaçais , Laure Teysset , Thomas Préat , Amélie Piton , Bassem A Hassan , Jean-Yves Roignant , Yuri Motorin , Clément Carré

WNT signalling control by KDM5C during development affects cognition.

Nature
Avec: Violetta Karwacki-Neisius , Ahram Jang , Engin Cukuroglu , Albert Tai , Alan Jiao , Danilo Predes , Joon Yoon , Emily Brookes , Jiekai Chen , Aimee Iberg , Florian Halbritter , Katrin Õunap , Thorsten M Schlaeger , Shannan Ho Sui , Jonathan Göke , Xi He , Maria K Lehtinen , Scott L Pomeroy , Yang Shi

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