Siddharth Banka

Affiliations
  • Manchester Centre for Genomics Medicine, St Mary's Hospital, Manchester University Hospital Foundation Trust, Health Innovation Manchester, Oxford Road, Manchester, UK.
  • Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Publications (55)

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Brain : a journal of neurology
Avec: Frédéric M Vaz , John H McDermott , Mariëlle Alders , Saskia B Wortmann , Stefan Kölker , Mia L Pras-Raves , Martin A T Vervaart , Henk van Lenthe , Angela C M Luyf , Hyung L Elfrink , Kay Metcalfe , Sara Cuvertino , Peter E Clayton , Rebecca Yarwood , Martin P Lowe , Simon Lovell , Richard C Rogers , Auteur inconnu , Antoine H C van Kampen , Jos P N Ruiter , Ronald J A Wanders , Sacha Ferdinandusse , Michel van Weeghel , Marc Engelen ,

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 , 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 , Jozef Gecz

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

The New England journal of medicine
Avec: Auteur inconnu , Damian Smedley , Katherine R Smith , Antonio Martin , Ellen A Thomas , Ellen M McDonagh , Valentina Cipriani , Jamie M Ellingford , Gavin Arno , Arianna Tucci , Jana Vandrovcova , Georgia Chan , Hywel J Williams , Thiloka Ratnaike , Wei Wei , Kathleen Stirrups , Kristina Ibanez , Loukas Moutsianas , Matthias Wielscher , Anna Need , Michael R Barnes , Letizia Vestito , James Buchanan , Sarah Wordsworth , Sofie Ashford , Karola Rehmström , Emily Li , Gavin Fuller , Philip Twiss , Olivera Spasic-Boskovic , Sally Halsall , R Andres Floto , Kenneth Poole , Annette Wagner , Sarju G Mehta , Mark Gurnell , Nigel Burrows , Roger James , Christopher Penkett , Eleanor Dewhurst , Stefan Gräf , Rutendo Mapeta , Mary Kasanicki , Andrea Haworth , Helen Savage , Melanie Babcock , Martin G Reese , Mark Bale , Emma Baple , Christopher Boustred , Helen Brittain , Anna de Burca , Marta Bleda , Andrew Devereau , Dina Halai , Eik Haraldsdottir , Zerin Hyder , Dalia Kasperaviciute , Christine Patch , Dimitris Polychronopoulos , Angela Matchan , Razvan Sultana , Mina Ryten , Ana L T Tavares , Carolyn Tregidgo , Clare Turnbull , Matthew Welland , Suzanne Wood , Catherine Snow , Eleanor Williams , Sarah Leigh , Rebecca E Foulger , Louise C Daugherty , Olivia Niblock , Ivone U S Leong , Caroline F Wright , Jim Davies , Charles Crichton , James Welch , Kerrie Woods , Lara Abulhoul , Paul Aurora , Detlef Bockenhauer , Alexander Broomfield , Maureen A Cleary , Tanya Lam , Mehul Dattani , Emma Footitt , Vijeya Ganesan , Stephanie Grunewald , Sandrine Compeyrot-Lacassagne , Francesco Muntoni , Clarissa Pilkington , Rosaline Quinlivan , Nikhil Thapar , Colin Wallis , Lucy R Wedderburn , Austen Worth , Teofila Bueser , Cecilia Compton , Charu Deshpande , Hiva Fassihi , Eshika Haque , Louise Izatt , Dragana Josifova , Shehla Mohammed , Leema Robert , Sarah Rose , Deborah Ruddy , Robert Sarkany , Genevieve Say , Adam C Shaw , Agata Wolejko , Bishoy Habib , Gavin Burns , Sarah Hunter , Russell J Grocock , Sean J Humphray , Peter N Robinson , Melissa Haendel , Michael A Simpson , Jill Clayton-Smith , Sofia Douzgou , Georgina Hall , Huw B Thomas , Raymond T O'Keefe , Michel Michaelides , Anthony T Moore , Sam Malka , Nikolas Pontikos , Andrew C Browning , Volker Straub , Gráinne S Gorman , Rita Horvath , Richard Quinton , Andrew M Schaefer , Patrick Yu-Wai-Man , Doug M Turnbull , Robert McFarland , Robert W Taylor , Emer O'Connor , Janice Yip , Katrina Newland , Huw R Morris , James Polke , Nicholas W Wood , Carolyn Campbell , Carme Camps , Kate Gibson , Nils Koelling , Tracy Lester , Andrea H Németh , Claire Palles , Smita Patel , Noemi B A Roy , Arjune Sen , John Taylor , Pilar Cacheiro , Julius O Jacobsen , Eleanor G Seaby , Val Davison , Lyn Chitty , Angela Douglas , Kikkeri Naresh , Dom McMullan , Sian Ellard , I Karen Temple , Andrew D Mumford , Gill Wilson , Phil Beales , Maria Bitner-Glindzicz , Graeme Black , John R Bradley , Paul Brennan , John Burn , Patrick F Chinnery , Perry Elliott , Frances Flinter , Henry Houlden , Melita Irving , William Newman , Shamima Rahman , John A Sayer , Jenny C Taylor , Andrew R Webster , Andrew O M Wilkie , Willem H Ouwehand , F Lucy Raymond , John Chisholm , Sue Hill , David Bentley , Richard H Scott , Tom Fowler , Augusto Rendon , Mark Caulfield

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: D L Polla , E J Bhoj , J B G M Verheij , J S Klein Wassink-Ruiter , A Reis , C Deshpande , A Gregor , K Hill-Karfe , A T Vulto-van Silfhout , R Pfundt , E M H F Bongers , H Hakonarson , S Berland , G Gradek , S Banka , K Chandler , L Gompertz , S C Huffels , C T R M Stumpel , R Wennekes , A P A Stegmann , W Reardon , E K S M Leenders , B B A de Vries , D Li , E Zackai , N Ragge , S A Lynch , S Cuddapah , H van Bokhoven , C Zweier , A P M de Brouwer

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.

Journal of medical genetics
Avec: Leslie Patricia Molina-Ramírez , Claire Kyle , Jamie M Ellingford , Ronnie Wright , Algy Taylor , Sanjeev S Bhaskar , Christopher Campbell , Harriet Jackson , Adele Fairclough , Abigail Rousseau , George J Burghel , Laura Dutton , Tracy A Briggs , Jill Clayton-Smith , Sofia Douzgou , Elizabeth A Jones , Helen M Kingston , Bronwyn Kerr , John Ealing , Suresh Somarathi , Kate E Chandler , Helen M Stuart , Emma Mm Burkitt-Wright , William G Newman , Iain A Bruce , Graeme C Black , David Gokhale

ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy.

European journal of human genetics : EJHG
Avec: Zerin Hyder , Wim Van Paesschen , Ataf Sabir , Francis H Sansbury , Katherine B Burke , Naz Khan , Kate E Chandler , Nicola S Cooper , Ronnie Wright , Edward McHale , Hilde Van Esch ,

Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment.

Amino acids
Avec: Myung Hee Park , Rajesh Kumar Kar , Alban Ziegler , Wendy K Chung

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

medRxiv : the preprint server for health sciences
Avec: Alexandra C Martin-Geary , Alexander J M Blakes , Ruebena Dawes , Scott D Findlay , Jenny Lord , Susan Walker , Jonathan Talbot-Martin , Nechama Wieder , Elston N D'Souza , Maria Fernandes , Sarah Hilton , Nayana Lahiri , Christopher Campbell , Sarah Jenkinson , Christian G E L DeGoede , Emily R Anderson , Christopher B Burge , Stephan J Sanders , Jamie Ellingford , Diana Baralle , Nicola Whiffin

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

American journal of human genetics
Avec: Quentin Thomas , Marialetizia Motta , Thierry Gautier , Maha S Zaki , Andrea Ciolfi , Julien Paccaud , François Girodon , Odile Boespflug-Tanguy , Thomas Besnard , Jennifer Kerkhof , Haley McConkey , Aymeric Masson , Anne-Sophie Denommé-Pichon , Benjamin Cogné , Eva Trochu , Virginie Vignard , Fatima El It , Lance H Rodan , Mohammad Ayman Alkhateeb , Rami Abou Jamra , Laurence Duplomb , Emilie Tisserant , Yannis Duffourd , Ange-Line Bruel , Adam Jackson , Meriel McEntagart , Anand Saggar , Joseph G Gleeson , David Sievert , Hyunwoo Bae , Beom Hee Lee , Kisang Kwon , Go Hun Seo , Hane Lee , Anjum Saeed , Nadeem Anjum , Huma Cheema , Salem Alawbathani , Imran Khan , Jorge Pinto-Basto , Joyce Teoh , Jasmine Wong , Umar Bin Mohamad Sahari , Henry Houlden , Kristina Zhelcheska , Melanie Pannetier , Mona A Awad , Marion Lesieur-Sebellin , Giulia Barcia , Jeanne Amiel , Julian Delanne , Christophe Philippe , Laurence Faivre , Sylvie Odent , Aida Bertoli-Avella , Christel Thauvin , Bekim Sadikovic , Bruno Reversade , Reza Maroofian , Jérôme Govin , Marco Tartaglia , Antonio Vitobello

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Heba Morsy , Mehdi Benkirane , Elisa Cali , Clarissa Rocca , Kristina Zhelcheska , Valentina Cipriani , Evangelia Galanaki , Reza Maroofian , Stephanie Efthymiou , David Murphy , Mary O'Driscoll , Mohnish Suri , Jill Clayton-Smith , Thomas Wright , Melody Redman , Jennifer A Bassetti , Mathilde Nizon , Benjamin Cogne , Rami Abu Jamra , Tobias Bartolomaeus , Marion Heruth , Ilona Krey , Janina Gburek-Augustat , Dagmar Wieczorek , Felix Gattermann , Meriel Mcentagart , Alice Goldenberg , Lucie Guyant-Marechal , Hector Garcia-Moreno , Paola Giunti , Brigitte Chabrol , Severine Bacrot , Roger Buissonnière , Virginie Magry , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Béla Melegh , András Szabó , Katalin Sümegi , Mireille Cossée , Monica Ziff , Russell Butterfield , David Hunt , Georgina Bird-Lieberman , Michael Hanna , Michel Koenig , Michael Stankewich , Jana Vandrovcova , Henry Houlden , Auteur inconnu

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

Brain : a journal of neurology
Avec: Kari A Mattison , Gilles Tossing , Fred Mulroe , Callum Simmons , Kameryn M Butler , Alison Schreiber , Adnan Alsadah , Derek E Neilson , Karin Naess , Anna Wedell , Anna Wredenberg , Arthur Sorlin , Emma McCann , George J Burghel , Beatriz Menendez , George E Hoganson , Lorenzo D Botto , Francis M Filloux , Ángel Aledo-Serrano , Antonio Gil-Nagel , Katrina Tatton-Brown , Nienke E Verbeek , Bert van der Zwaag , Kyrieckos A Aleck , Andrew C Fazenbaker , Jorune Balciuniene , Holly A Dubbs , Eric D Marsh , Kathryn Garber , Jakob Ek , Morten Duno , Christina E Hoei-Hansen , Matthew A Deardorff , Gordana Raca , Catherine Quindipan , Michele van Hirtum-Das , Jeroen Breckpot , Trine Bjørg Hammer , Rikke S Møller , Andrea Whitney , Andrew G L Douglas , Mira Kharbanda , Nicola Brunetti-Pierri , Manuela Morleo , Vincenzo Nigro , Halie J May , James X Tao , Emanuela Argilli , Elliot H Sherr , William B Dobyns , Auteur inconnu , Richard A Baines , Jim Warwicker , J Alex Parker , Philippe M Campeau , Andrew Escayg

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

American journal of human genetics
Avec: Maimuna S Paul , Anna R Duncan , Casie A Genetti , Hongling Pan , Adam Jackson , Patricia E Grant , Jiahai Shi , Michele Pinelli , Nicola Brunetti-Pierri , Alexandra Garza-Flores , Dave Shahani , Russell P Saneto , Giuseppe Zampino , Chiara Leoni , Emanuele Agolini , Antonio Novelli , Ulrike Blümlein , Tobias B Haack , Wolfram Heinritz , Eva Matzker , Bader Alhaddad , Rami Abou Jamra , Tobias Bartolomaeus , Saber AlHamdan , Raphael Carapito , Bertrand Isidor , Seiamak Bahram , Alyssa Ritter , Kosuke Izumi , Ben Pode Shakked , Ortal Barel , Bruria Ben Zeev , Amber Begtrup , Deanna Alexis Carere , Sureni V Mullegama , Timothy Blake Palculict , Daniel G Calame , Katharina Schwan , Alicia R P Aycinena , Rasa Traberg , Auteur inconnu , Sofia Douzgou , Harrison Pirt , Naila Ismayilova , Hsiao-Tuan Chao , Pankaj B Agrawal

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.

American journal of medical genetics. Part A
Avec: Shalini S Nayak , Robert Harkness , Anju Shukla , William G Newman , Katta M Girisha

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Science advances
Avec: Sarah E Sheppard , Laura Bryant , Rochelle N Wickramasekara , Courtney Vaccaro , Brynn Robertson , Jodi Hallgren , Jason Hulen , Cynthia J Watson , Victor Faundes , Yannis Duffourd , Pearl Lee , M Celeste Simon , Xavier de la Cruz , Natália Padilla , Marco Flores-Mendez , Naiara Akizu , Jacqueline Smiler , Renata Pellegrino Da Silva , Dong Li , Michael March , Abdias Diaz-Rosado , Isabella Peixoto de Barcelos , Zhao Xiang Choa , Chin Yan Lim , Christèle Dubourg , Hubert Journel , Florence Demurger , Maureen Mulhern , Cigdem Akman , Natalie Lippa , Marisa Andrews , Dustin Baldridge , John Constantino , Arie van Haeringen , Irina Snoeck-Streef , Penny Chow , Anne Hing , John M Graham , Margaret Au , Laurence Faivre , Wei Shen , Rong Mao , Janice Palumbos , David Viskochil , William Gahl , Cynthia Tifft , Ellen Macnamara , Natalie Hauser , Rebecca Miller , Jessica Maffeo , Alexandra Afenjar , Diane Doummar , Boris Keren , Pamela Arn , Sarah Macklin-Mantia , Ilse Meerschaut , Bert Callewaert , André Reis , Christiane Zweier , Carole Brewer , Anand Saggar , Marie F Smeland , Ajith Kumar , Frances Elmslie , Charu Deshpande , Mathilde Nizon , Benjamin Cogne , Yvette van Ierland , Martina Wilke , Marjon van Slegtenhorst , Suzanne Koudijs , Jin Yun Chen , David Dredge , Danielle Pier , Saskia Wortmann , Erik-Jan Kamsteeg , Johannes Koch , Devon Haynes , Lynda Pollack , Hannah Titheradge , Kara Ranguin , Anne-Sophie Denommé-Pichon , Sacha Weber , Rubén Pérez de la Fuente , Jaime Sánchez Del Pozo , Jose Miguel Lezana Rosales , Pascal Joset , Katharina Steindl , Anita Rauch , Davide Mei , Francesco Mari , Renzo Guerrini , James Lespinasse , Frédéric Tran Mau-Them , Christophe Philippe , Benjamin Dauriat , Laure Raymond , Sébastien Moutton , Anna M Cueto-González , Tiong Yang Tan , Cyril Mignot , Sarah Grotto , Florence Renaldo , Theodore G Drivas , Laura Hennessy , Anna Raper , Ilaria Parenti , Frank J Kaiser , Alma Kuechler , Øyvind L Busk , Lily Islam , Jacob A Siedlik , Lindsay B Henderson , Jane Juusola , Richard Person , Rhonda E Schnur , Antonio Vitobello , Elizabeth J Bhoj , Holly A F Stessman

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

Human genetics
Avec: Franziska Schnabel , Elisabeth Schuler , Almundher Al-Maawali , Ankur Chaurasia , Steffen Syrbe , Adila Al-Kindi , Gandham SriLakshmi Bhavani , Anju Shukla , Janine Altmüller , Peter Nürnberg , Katta M Girisha , Yun Li , Bernd Wollnik , Gökhan Yigit

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

American journal of human genetics
Avec: Dmitrijs Rots , Taryn E Jakub , Crystal Keung , Adam Jackson , Rolph Pfundt , Bert B A de Vries , Richard H van Jaarsveld , Saskia M J Hopman , Ellen van Binsbergen , Irene Valenzuela , Maja Hempel , Tatjana Bierhals , Fanny Kortüm , Francois Lecoquierre , Alice Goldenberg , Jens Michael Hertz , Charlotte Brasch Andersen , Maria Kibæk , Eloise J Prijoles , Roger E Stevenson , David B Everman , Wesley G Patterson , Linyan Meng , Charul Gijavanekar , Karl De Dios , Shenela Lakhani , Tess Levy , Matias Wagner , Dagmar Wieczorek , Paul J Benke , María Soledad Lopez Garcia , Renee Perrier , Sergio B Sousa , Pedro M Almeida , Maria José Simões , Bertrand Isidor , Wallid Deb , Andrew A Schmanski , Omar Abdul-Rahman , Christophe Philippe , Ange-Line Bruel , Laurence Faivre , Antonio Vitobello , Christel Thauvin , Jeroen J Smits , Livia Garavelli , Stefano G Caraffi , Francesca Peluso , Laura Davis-Keppen , Dylan Platt , Erin Royer , Lisette Leeuwen , Margje Sinnema , Alexander P A Stegmann , Constance T R M Stumpel , George E Tiller , Daniëlle G M Bosch , Stephanus T Potgieter , Shelagh Joss , Miranda Splitt , Simon Holden , Matina Prapa , Nicola Foulds , Sofia Douzgou , Kaija Puura , Regina Waltes , Andreas G Chiocchetti , Christine M Freitag , F Kyle Satterstrom , Silvia De Rubeis , Joseph Buxbaum , Bruce D Gelb , Aleksic Branko , Itaru Kushima , Jennifer Howe , Stephen W Scherer , Alessia Arado , Chiara Baldo , Olivier Patat , Demeer Bénédicte , Diego Lopergolo , Filippo M Santorelli , Tobias B Haack , Andreas Dufke , Miriam Bertrand , Ruth J Falb , Angelika Rieß , Peter Krieg , Stephanie Spranger , Maria Francesca Bedeschi , Maria Iascone , Sarah Josephi-Taylor , Tony Roscioli , Michael F Buckley , Jan Liebelt , Aditi I Dagli , Emmelien Aten , Anna C E Hurst , Alesha Hicks , Mohnish Suri , Ermal Aliu , Sunil Naik , Richard Sidlow , Juliette Coursimault , Gaël Nicolas , Hanna Küpper , Florence Petit , Veyan Ibrahim , Deniz Top , Francesca Di Cara , Auteur inconnu , Raymond J Louie , Elliot Stolerman , Han G Brunner , Lisenka E L M Vissers , Jamie M Kramer , Tjitske Kleefstra

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.

Genes
Avec: Valeria Barili , Enrico Ambrosini , Vera Uliana , Melissa Bellini , Giulia Vitetta , Davide Martorana , Ilenia Rita Cannizzaro , Antonietta Taiani , Erika De Sensi , Patrizia Caggiati , Sarah Hilton , Antonio Percesepe

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sara Cuvertino , Verity Hartill , Alice Colyer , Terence Garner , Nisha Nair , Lihadh Al-Gazali , Natalie Canham , Victor Faundes , Frances Flinter , Jozef Hertecant , Muriel Holder-Espinasse , Brian Jackson , Sally Ann Lynch , Fatima Nadat , Vagheesh M Narasimhan , Michelle Peckham , Robert Sellers , Marco Seri , Francesca Montanari , Laura Southgate , Gabriella Maria Squeo , Richard Trembath , David van Heel , Santina Venuto , Daniel Weisberg , Karen Stals , Sian Ellard , Auteur inconnu , Anne Barton , Susan J Kimber , Eamonn Sheridan , Giuseppe Merla , Adam Stevens , Colin A Johnson ,

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

American journal of human genetics
Avec: David B Beck , Ana Petracovici , Chongsheng He , Hannah W Moore , Raymond J Louie , Muhammad Ansar , Sofia Douzgou , Sivagamy Sithambaram , Trudie Cottrell , Regie Lyn P Santos-Cortez , Eloise J Prijoles , Renee Bend , Boris Keren , Cyril Mignot , Marie-Christine Nougues , Katrin Õunap , Tiia Reimand , Sander Pajusalu , Muhammad Zahid , Muhammad Arif Nadeem Saqib , Julien Buratti , Eleanor G Seaby , Kirsty McWalter , Aida Telegrafi , Dustin Baldridge , Marwan Shinawi , Suzanne M Leal , G Bradley Schaefer , Roger E Stevenson , Roberto Bonasio , Jill A Fahrner

Bilateral Masseter and Internal Pterygoid Muscle Hypertrophy: A Diagnostic Challenge.

The Journal of the Association of Physicians of India
Avec: Gurdeep Kaur , Sanjay Parmar , Rajendra Sharma , Jeevraj Dhaka , Rakesh Kumar , Sweta Banka

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 , 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 , Jozef Gecz , Jillian Nicholl , Lesley McGregor , Tobias Linden , Sanjay M Sisodiya , Damien Sanlaville , Sau W Cheung , Carl Ernst , Philippe M Campeau

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Brain : a journal of neurology
Avec: Pedro M Rodríguez Cruz , Judith Cossins , Eduardo de Paula Estephan , Francina Munell , Kathryn Selby , Michio Hirano , Reza Maroofin , Mohammad Yahya Vahidi Mehrjardi , Gabriel Chow , Aisling Carr , Adnan Manzur , Stephanie Robb , Pinki Munot , Wei Wei Liu , Harry Fraser , Christian De Goede , Edmar Zanoteli , Umbertina Conti Reed , Abigail Sage , Margarida Gratacos , Alfons Macaya , Marina Dusl , Jan Senderek , Ana Töpf , Monika Hofer , Ravi Knight , Sithara Ramdas , Sandeep Jayawant , Hans Lochmüller , Jacqueline Palace , David Beeson

Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status.

Journal of medical genetics
Avec: George J Burghel , Unzela Khan , Wei-Yu Lin , William Whittaker ,

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.

Journal of human genetics
Avec: Víctor Faundes , Geraldine Malone , William G Newman ,

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Genome medicine
Avec: Ilaria Mannucci , Nghi D P Dang , Hannes Huber , Jaclyn B Murry , Jeff Abramson , Thorsten Althoff , Gareth Baynam , David Bearden , Ana Beleza-Meireles , Paul J Benke , Siren Berland , Tatjana Bierhals , Frederic Bilan , Laurence A Bindoff , Geir Julius Braathen , Øyvind L Busk , Jirat Chenbhanich , Jonas Denecke , Luis F Escobar , Caroline Estes , Julie Fleischer , Daniel Groepper , Charlotte A Haaxma , Maja Hempel , Yolanda Holler-Managan , Gunnar Houge , Adam Jackson , Laura Kellogg , Boris Keren , Catherine Kiraly-Borri , Cornelia Kraus , Christian Kubisch , Gwenael Le Guyader , Ulf W Ljungblad , Leslie Manace Brenman , Julian A Martinez-Agosto , Matthew Might , David T Miller , Kelly Q Minks , Billur Moghaddam , Caroline Nava , Stanley F Nelson , John M Parant , Trine Prescott , Farrah Rajabi , Hanitra Randrianaivo , Simone F Reiter , Janneke Schuurs-Hoeijmakers , Perry B Shieh , Anne Slavotinek , Sarah Smithson , Alexander P A Stegmann , Kinga Tomczak , Kristian Tveten , Jun Wang , Jordan H Whitlock , Christiane Zweier , Kirsty McWalter , Jane Juusola , Fabiola Quintero-Rivera , Utz Fischer , Nan Cher Yeo , Hans-Jürgen Kreienkamp , Davor Lessel

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.

The British journal of dermatology
Avec: Yanshan Liu , Yingzhi Huang , Jonathan Hardman-Smart , Derek Pye , Antonio Torrelo , Glenda M Beaman , Marcelo G Kazanietz , Martin J Baker , Carlo Ferrazzano , Chenfu Shi , Gisela Orozco , Stephen Eyre , Michel van Geel , Anette Bygum , Judith Fischer , Zosia Miedzybrodzka , Faris Abuzahra , Albert Rübben , Sara Cuvertino , Jamie M Ellingford , Miriam J Smith , D Gareth Evans , Lizelotte J M T Weppner-Parren , Maurice A M van Steensel , Iskander H Chaudhary , D Chas Mangham , John T Lear , Ralf Paus , Jorge Frank , William G Newman , Xue Zhang

Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseases.

Journal of clinical epidemiology
Avec: Andrada Ciucă , William G Newman , Ramona Moldovan , Jamie J Kirkham

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Nature communications
Avec: Carolina Gracia-Diaz , Yijing Zhou , Qian Yang , Reza Maroofian , Paula Espana-Bonilla , Chul-Hwan Lee , Shuo Zhang , Natàlia Padilla , Raquel Fueyo , Elisa A Waxman , Sunyimeng Lei , Garrett Otrimski , Dong Li , Sarah E Sheppard , Paul Mark , Margaret H Harr , Hakon Hakonarson , Lance Rodan , Adam Jackson , Pradeep Vasudevan , Corrina Powel , Shehla Mohammed , Sateesh Maddirevula , Hamad Alzaidan , Eissa A Faqeih , Stephanie Efthymiou , Valentina Turchetti , Fatima Rahman , Shazia Maqbool , Vincenzo Salpietro , Shahnaz H Ibrahim , Gabriella di Rosa , Henry Houlden , Maha Nasser Alharbi , Nouriya Abbas Al-Sannaa , Peter Bauer , Giovanni Zifarelli , Conchi Estaras , Anna C E Hurst , Michelle L Thompson , Anna Chassevent , Constance L Smith-Hicks , Xavier de la Cruz , Alexander M Holtz , Houda Zghal Elloumi , M J Hajianpour , Claudine Rieubland , Dominique Braun , Auteur inconnu , Deborah L French , Elizabeth A Heller , Murielle Saade , Hongjun Song , Guo-Li Ming , Fowzan S Alkuraya , Pankaj B Agrawal , Danny Reinberg , Elizabeth J Bhoj , Marian A Martínez-Balbás , Naiara Akizu

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

HGG advances
Avec: Morad Ansari , Kamli N W Faour , Akiko Shimamura , Graeme Grimes , Emeline M Kao , Erica R Denhoff , Ana Blatnik , Daniel Ben-Isvy , Lily Wang , Benjamin M Helm , Helen Firth , Amy M Breman , Emilia K Bijlsma , Aiko Iwata-Otsubo , Thomy J L de Ravel , Vincent Fusaro , Alan Fryer , Keith Nykamp , Lara G Stühn , Tobias B Haack , G Christoph Korenke , Panayiotis Constantinou , Kinga M Bujakowska , Karen J Low , Emily Place , Jennifer Humberson , Melanie P Napier , Jessica Hoffman , Jane Juusola , Matthew A Deardorff , Wanqing Shao , Shira Rockowitz , Ian Krantz , Maninder Kaur , Sarah Raible , Victoria Dortenzio , Sabine Kliesch , Moriel Singer-Berk , Emily Groopman , Stephanie DiTroia , Sonia Ballal , Siddharth Srivastava , Kathrin Rothfelder , Saskia Biskup , Jessica Rzasa , Jennifer Kerkhof , Haley McConkey , Bekim Sadikovic , Sarah Hilton , Frank Tüttelmann , Donald Conrad , Anne O'Donnell-Luria , Michael E Talkowski , David R FitzPatrick , Philip M Boone

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jennifer Kerkhof , Cassandra Rastin , Michael A Levy , Raissa Relator , Haley McConkey , Leigh Demain , Elena Dominguez-Garrido , Laura Donker Kaat , Sofia Douzgou Houge , Barbara R DuPont , Timothy Fee , Robin S Fletcher , David Gokhale , Bjørn Ivar Haukanes , Peter Henneman , Sarah Hilton , Benjamin A Hilton , Sarah Jenkinson , Jennifer A Lee , Raymond J Louie , M Mahdi Motazacker , Jessica Rzasa , Roger E Stevenson , Astrid Plomp , Liselot van der Laan , Jasper van der Smagt , Kellie K Walden , Marcel Mannens , Steven A Skinner , Michael J Friez , Christopher Campbell , Matthew L Tedder , Marielle Alders , Bekim Sadikovic

Biallelic variants in

medRxiv : the preprint server for health sciences
Avec: Thomas B Smith , Robert Kopajtich , Leigh A M Demain , Alessandro Rea , Huw B Thomas , Manuel Schiff , Christian Beetz , Shelagh Joss , Gerard S Conway , Anju Shukla , Mayuri Yeole , Periyasamy Radhakrishnan , Hatem Azzouz , Amel Ben Chehida , Monique Elmaleh-Bergès , Ruth I C Glasgow , Kyle Thompson , Monika Oláhová , Langping He , Emma M Jenkinson , Amir Jahic , Inna A Belyantseva , Melanie Barzik , Jill E Urquhart , James O' Sullivan , Simon G Williams , Sanjeev S Bhaskar , Samantha Carrera , Alexander J M Blakes , Wyatt W Yue , Jamie M Ellingford , Henry Houlden , Auteur inconnu , Kevin J Munro , Thomas B Friedman , Robert W Taylor , Holger Prokisch , Raymond T O'Keefe , William G Newman

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

European journal of human genetics : EJHG
Avec: Markus Zweier , Anaïs Begemann , Kirsty McWalter , Megan T Cho , Lucia Abela , Bettina Behring , Andrea Berger , Chester W Brown , Maryline Carneiro , Jiani Chen , Gregory M Cooper , Auteur inconnu , Candice R Finnila , Maria J Guillen Sacoto , Alex Henderson , Ulrike Hüffmeier , Pascal Joset , Bronwyn Kerr , Gaetan Lesca , Gloria S Leszinski , John Henry McDermott , Meira R Meltzer , Kristin G Monaghan , Roya Mostafavi , Katrin Õunap , Barbara Plecko , Zöe Powis , Gabriela Purcarin , Tiia Reimand , Korbinian M Riedhammer , John M Schreiber , Deepa Sirsi , Klaas J Wierenga , Monica H Wojcik , Sorina M Papuc , Katharina Steindl , Heinrich Sticht , Anita Rauch

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

American journal of medical genetics. Part A
Avec: Deepika D'Cunha Burkardt , Anna Zachariou , Chey Loveday , Clare L Allen , David J Amor , Anna Ardissone , Alexia Bourgois , Christine Coubes , Cheryl Cytrynbaum , Laurence Faivre , Gerard Marion , Rachel Horton , Dieter Kotzot , Guillermo Lay-Son , Melissa Lees , Karen Low , Ho-Ming Luk , Paul Mark , Allyn McConkie-Rosell , Marie McDonald , John Pappas , Christophe Phillipe , Deborah Shears , Brian Skotko , Fiona Stewart , Helen Stewart , I Karen Temple , Frederic T Mau-Them , Ricardo A Verdugo , Rosanna Weksberg , Yuri A Zarate , John M Graham , Katrina Tatton-Brown

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Journal of inherited metabolic disease
Avec: Ina Knerr , Roberto Colombo , Jill Urquhart , Ana Morais , Begona Merinero , Alfonso Oyarzabal , Belén Pérez , Simon A Jones , Rahat Perveen , Mary A Preece , Yvonne Rogers , Eileen P Treacy , Philip Mayne , Giuseppe Zampino , Sabrina MacKinnon , Evangeline Wassmer , Wyatt W Yue , Ian Robinson , Pilar Rodríguez-Pombo , Simon E Olpin ,

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.

Orphanet journal of rare diseases
Avec: Michael Smith , Elizabeth Alexander , Ruta Marcinkute , Dorica Dan , Myfanwy Rawson , Jason Gavin , Hany Mina , Con Hennessy , Florence Riccardi , Francesca Clementina Radio , Marketa Havlovicova , Matteo Cassina , Adela Chirita Emandi , Melanie Fradin , Lianne Gompertz , Ann Nordgren , Rasa Traberg , Massimiliano Rossi , Aurelién Trimouille , Rasika Sowmyalakshmi , Bruno Dallapiccola , Alessandra Renieri , Laurence Faivre , Bronwyn Kerr , Alain Verloes , Jill Clayton-Smith , Sofia Douzgou , Auteur inconnu

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

American journal of human genetics
Avec: Sónia Barbosa , Stephanie Greville-Heygate , Maxime Bonnet , Annie Godwin , Christine Fagotto-Kaufmann , Andrey V Kajava , Damien Laouteouet , Rebecca Mawby , Htoo Aung Wai , Alexander J M Dingemans , Jayne Hehir-Kwa , Marjorlaine Willems , Yline Capri , Sarju G Mehta , Helen Cox , David Goudie , Fleur Vansenne , Peter Turnpenny , Marie Vincent , Benjamin Cogné , Gaëtan Lesca , Jozef Hertecant , Diana Rodriguez , Boris Keren , Lydie Burglen , Marion Gérard , Audrey Putoux , Auteur inconnu , Vincent Cantagrel , Karine Siquier-Pernet , Marlene Rio , Ajoy Sarkar , Marcie Steeves , Michael Parker , Emma Clement , Sébastien Moutton , Frédéric Tran Mau-Them , Amélie Piton , Bert B A de Vries , Matthew Guille , Anne Debant , Susanne Schmidt , Diana Baralle

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.

Clinical genetics
Avec: Alistair T Pagnamenta , Adam Jackson , Rahat Perveen , Glenda Beaman , Gemma Petts , Asheeta Gupta , Zerin Hyder , Brian Hon-Yin Chung , Anita Sik-Yau Kan , Ka Wang Cheung , Wilhelmina S Kerstjens-Frederikse , Kristin M Abbott , Auteur inconnu , Orly Elpeleg , Jenny C Taylor , Asaf Ta-Shma

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: James Fasham , Siying Lin , Promita Ghosh , Francesca Clementina Radio , Emily G Farrow , Isabelle Thiffault , Jennifer Kussman , Dihong Zhou , Rick Hemming , Kenneth Zahka , Barry A Chioza , Lettie E Rawlins , Olivia K Wenger , Adam C Gunning , Simone Pizzi , Roberta Onesimo , Giuseppe Zampino , Emily Barker , Natasha Osawa , Megan Christine Rodriguez , Teresa M Neuhann , Elaine H Zackai , Beth Keena , Jenina Capasso , Alex V Levin , Elizabeth Bhoj , Dong Li , Hakon Hakonarson , Ingrid M Wentzensen , Adam Jackson , Kate E Chandler , Zeynep H Coban-Akdemir , Jennifer E Posey , James R Lupski , Sarah E Sheppard , Marco Tartaglia , Barbara Triggs-Raine , Andrew H Crosby , Emma L Baple

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anaïs Begemann , Heinrich Sticht , Amber Begtrup , Antonio Vitobello , Laurence Faivre , Bader Alhaddad , Reza Asadollahi , Jessica Becker , Tatjana Bierhals , Kathleen E Brown , Ange-Line Bruel , Theresa Brunet , Maryline Carneiro , Kirsten Cremer , Robert Day , Anne-Sophie Denommé-Pichon , Dave A Dyment , Hartmut Engels , Rachel Fisher , Elaine S Goh , M J Hajianpour , Lucia Ribeiro Machado Haertel , Nadine Hauer , Maja Hempel , Theresia Herget , Jessika Johannsen , Cornelia Kraus , Gwenaël Le Guyader , Gaetan Lesca , Frédéric Tran Mau-Them , John Henry McDermott , Kirsty McWalter , Pierre Meyer , Katrin Õunap , Bernt Popp , Tiia Reimand , Korbinian M Riedhammer , Martina Russo , Lynette G Sadleir , Margarita Saenz , Manuel Schiff , Elisabeth Schuler , Steffen Syrbe , Amelie Theresa Van der Ven , Alain Verloes , Marjolaine Willems , Christiane Zweier , Katharina Steindl , Markus Zweier , Anita Rauch

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

American journal of human genetics
Avec: Joery den Hoed , Elke de Boer , Norine Voisin , Alexander J M Dingemans , Nicolas Guex , Laurens Wiel , Christoffer Nellaker , Shivarajan M Amudhavalli , Frederique S Bena , Bruria Ben-Zeev , Vincent R Bonagura , Ange-Line Bruel , Theresa Brunet , Han G Brunner , Hui B Chew , Jacqueline Chrast , Loreta Cimbalistienė , Hilary Coon , Auteur inconnu , Emmanuèlle C Délot , Florence Démurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Dian Donnai , David A Dyment , Orly Elpeleg , Laurence Faivre , Christian Gilissen , Leslie Granger , Benjamin Haber , Yasuo Hachiya , Yasmin Hamzavi Abedi , Jennifer Hanebeck , Jayne Y Hehir-Kwa , Brooke Horist , Toshiyuki Itai , Adam Jackson , Rosalyn Jewell , Kelly L Jones , Shelagh Joss , Hirofumi Kashii , Mitsuhiro Kato , Anja A Kattentidt-Mouravieva , Fernando Kok , Urania Kotzaeridou , Vidya Krishnamurthy , Vaidutis Kučinskas , Alma Kuechler , Alinoë Lavillaureix , Pengfei Liu , Linda Manwaring , Naomichi Matsumoto , Benoît Mazel , Kirsty McWalter , Vardiella Meiner , Mohamad A Mikati , Satoko Miyatake , Takeshi Mizuguchi , Lip H Moey , Shehla Mohammed , Hagar Mor-Shaked , Hayley Mountford , Ruth Newbury-Ecob , Sylvie Odent , Laura Orec , Matthew Osmond , Timothy B Palculict , Michael Parker , Andrea K Petersen , Rolph Pfundt , Eglė Preikšaitienė , Kelly Radtke , Emmanuelle Ranza , Jill A Rosenfeld , Teresa Santiago-Sim , Caitlin Schwager , Margje Sinnema , Lot Snijders Blok , Rebecca C Spillmann , Alexander P A Stegmann , Isabelle Thiffault , Linh Tran , Adi Vaknin-Dembinsky , Juliana H Vedovato-Dos-Santos , Samantha A Schrier Vergano , Eric Vilain , Antonio Vitobello , Matias Wagner , Androu Waheeb , Marcia Willing , Britton Zuccarelli , Usha Kini , Dianne F Newbury , Tjitske Kleefstra , Alexandre Reymond , Simon E Fisher , Lisenka E L M Vissers

Peripheral Administration of Nitroglycerin in Pulseless Ventricular Tachycardia due to Cocaine-Induced Coronary Vasospasm.

Cardiovascular toxicology
Avec: Savalan Babapoor-Farrokhran , Aditi Kalla , Deanna Gill , Asma Gulab , Sahil Banka , Sanjog Kalra

Systematic reanalysis of copy number losses of uncertain clinical significance.

Journal of medical genetics
Avec: George J Burghel , Jamie M Ellingford , Ronnie Wright , Lauren Bradford , Jake Miller , Christopher Watt , Jonathan Edgerley , Farah Naeem ,

Individuals with heterozygous variants in the Wnt-signalling pathway gene

Ophthalmic genetics
Avec: Richard Holt , David Goudie , Alejandra Damián Verde , Alice Gardham , Francis Ramond , Audrey Putoux , Ajoy Sarkar , Virginia Clowes , Jill Clayton-Smith , Laura Cortazar Galarza , Gilles Thuret , Marta Ubeda Erviti , Ane Zurutuza Ibarguren , Raquel Sáez Villaverde , Alejandra Tamayo Durán , Carmen Ayuso , Dorine A Bax , Julie Plaisancie , Marta Corton , Nicolas Chassaing , Patrick Calvas , Nicola K Ragge

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

The British journal of dermatology
Avec: Adam Jackson , Celia Moss , Kate E Chandler , Pablo Lopez Balboa , Maria L Bageta , Gabriela Petrof , Anna E Martinez , Lu Liu , Alyson Guy , Jemima E Mellerio , John Y W Lee , Malobi Ogboli , Gavin Ryan , Auteur inconnu , John A McGrath ,

PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing.

Nature metabolism
Avec: Domagoj Cikes , Kareem Elsayad , Erdinc Sezgin , Erika Koitai , Ferenc Torma , Michael Orthofer , Rebecca Yarwood , Leonhard X Heinz , Vitaly Sedlyarov , Nasser Darwish Miranda , Adrian Taylor , Sophie Grapentine , Fathiya Al-Murshedi , Anne Abot , Adelheid Weidinger , Candice Kutchukian , Colline Sanchez , Shane J F Cronin , Maria Novatchkova , Anoop Kavirayani , Thomas Schuetz , Bernhard Haubner , Lisa Haas , Astrid Hagelkruys , Suzanne Jackowski , Andrey V Kozlov , Vincent Jacquemond , Claude Knauf , Giulio Superti-Furga , Eric Rullman , Thomas Gustafsson , John McDermot , Martin Lowe , Zsolt Radak , Jeffrey S Chamberlain , Marica Bakovic , Josef M Penninger

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

American journal of human genetics
Avec: Eva Niggl , Arjan Bouman , Lauren C Briere , Remco M Hoogenboezem , Ilse Wallaard , Joohyun Park , Jakob Admard , Martina Wilke , Emilio D R O Harris-Mostert , Minetta Elgersma , Jennifer Bain , Meena Balasubramanian , Paul J Benke , Miriam Bertrand , Alyssa E Blesson , Jill Clayton-Smith , Jamie M Ellingford , Madelyn A Gillentine , Dana H Goodloe , Tobias B Haack , Mahim Jain , Ian Krantz , Sharon M Luu , Molly McPheron , Candace L Muss , Sarah E Raible , Nathaniel H Robin , Michael Spiller , Susan Starling , David A Sweetser , Isabelle Thiffault , Francesco Vetrini , Dennis Witt , Emily Woods , Dihong Zhou , Auteur inconnu , Auteur inconnu , Ype Elgersma , Annelot C M van Esbroeck

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

American journal of human genetics
Avec: Dmitrijs Rots , Arianne Bouman , Ayumi Yamada , Michael Levy , Alexander J M Dingemans , Bert B A de Vries , Martina Ruiterkamp-Versteeg , Nicole de Leeuw , Charlotte W Ockeloen , Rolph Pfundt , Elke de Boer , Joost Kummeling , Bregje van Bon , Hans van Bokhoven , Nael Nadif Kasri , Hanka Venselaar , Marielle Alders , Jennifer Kerkhof , Haley McConkey , Alma Kuechler , Bart Elffers , Rixje van Beeck Calkoen , Susanna Hofman , Audrey Smith , Maria Irene Valenzuela , Siddharth Srivastava , Zoe Frazier , Isabelle Maystadt , Carmelo Piscopo , Giuseppe Merla , Meena Balasubramanian , Gijs W E Santen , Kay Metcalfe , Soo-Mi Park , Laurent Pasquier , Dian Donnai , Daniel Weisberg , Gertrud Strobl-Wildemann , Annemieke Wagemans , Maaike Vreeburg , Diana Baralle , Nicola Foulds , Ingrid Scurr , Nicola Brunetti-Pierri , Johanna M van Hagen , Emilia K Bijlsma , Anna H Hakonen , Carolina Courage , David Genevieve , Lucile Pinson , Francesca Forzano , Charu Deshpande , Maria L Kluskens , Lindsey Welling , Astrid S Plomp , Els K Vanhoutte , Louisa Kalsner , Janna A Hol , Audrey Putoux , Johanna Lazier , Pradeep Vasudevan , Elizabeth Ames , Jessica O'Shea , Damien Lederer , Julie Fleischer , Mary O'Connor , Melissa Pauly , Georgia Vasileiou , André Reis , Catherine Kiraly-Borri , Arjan Bouman , Chris Barnett , Marjan Nezarati , Lauren Borch , Gea Beunders , Kübra Özcan , Stéphanie Miot , Catharina M L Volker-Touw , Koen L I van Gassen , Gerarda Cappuccio , Katrien Janssens , Nofar Mor , Inna Shomer , Dan Dominissini , Matthew L Tedder , Alison M Muir , Bekim Sadikovic , Han G Brunner , Lisenka E L M Vissers , Yoichi Shinkai , Tjitske Kleefstra

Sine Scleroderma.

The Journal of the Association of Physicians of India
Avec: Gurdeep Kaur , Sweta Banka , Baldev Meena , Avinash Kulkarni , Rajesh Prajapat , Jeevraj Dhaka

The clinical presentation caused by truncating CHD8 variants.

Clinical genetics
Avec: Sofia Douzgou , Hui Wen Liang , Kay Metcalfe , Suresh Somarathi , Marc Tischkowitz , Wafik Mohamed , Usha Kini , Shane McKee , Laura Yates , Marta Bertoli , Sally Ann Lynch , Susan Holder , Auteur inconnu ,

Kabuki syndrome: international consensus diagnostic criteria.

Journal of medical genetics
Avec: Margaret P Adam , Hans T Bjornsson , Olaf Bodamer , Albert E Chudley , Jaqueline Harris , Hiroshi Kawame , Brendan C Lanpher , Andrew W Lindsley , Giuseppe Merla , Noriko Miyake , Nobuhiko Okamoto , Constanze T Stumpel , Norio Niikawa , Auteur inconnu

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 , 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 , Jozef Gecz , Jillian Nicholl , Lesley McGregor , Tobias Linden , Sanjay M Sisodiya , Damien Sanlaville , Sau W Cheung , Carl Ernst , Philippe M Campeau

Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.

American journal of medical genetics. Part A
Avec: Adam Jackson , Helen Stewart , Auteur inconnu , Hannah Robinson , Simon Lovell , Jill Clayton-Smith

In-depth phenotyping for clinical stratification of Gaucher disease.

Orphanet journal of rare diseases
Avec: Simona D'Amore , Kathleen Page , Aimée Donald , Khadijeh Taiyari , Brian Tom , Patrick Deegan , Chong Y Tan , Kenneth Poole , Simon A Jones , Atul Mehta , Derralynn Hughes , Reena Sharma , Robin H Lachmann , Anupam Chakrapani , Tarekegn Geberhiwot , Saikat Santra , Siddarth Banka , Timothy M Cox , Auteur inconnu

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 , Jozef Gecz , 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

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

NPJ genomic medicine
Avec: Michael A Levy , David B Beck , Kay Metcalfe , Sofia Douzgou , Sivagamy Sithambaram , Trudie Cottrell , Muhammad Ansar , Jennifer Kerkhof , Cyril Mignot , Marie-Christine Nougues , Boris Keren , Hannah W Moore , Renske Oegema , Jacques C Giltay , Marleen Simon , Richard H van Jaarsveld , Jessica Bos , Mieke van Haelst , M Mahdi Motazacker , Elles M J Boon , Gijs W E Santen , Claudia A L Ruivenkamp , Marielle Alders , Teresa Romeo Luperchio , Leandros Boukas , Keri Ramsey , Vinodh Narayanan , G Bradley Schaefer , Roberto Bonasio , Kimberly F Doheny , Roger E Stevenson , Bekim Sadikovic , Jill A Fahrner

Réseau de co-auteurs

None None 21 collaborations
Adam Jackson 10 collaborations
Sofia Douzgou 8 collaborations
Laurence Faivre 8 collaborations
Jill Clayton-Smith 7 collaborations
Jamie M Ellingford 6 collaborations
William G Newman 6 collaborations
Jennifer Kerkhof 6 collaborations
Bekim Sadikovic 6 collaborations
Antonio Vitobello 6 collaborations
Henry Houlden 5 collaborations
Haley McConkey 5 collaborations
Boris Keren 5 collaborations
Roger E Stevenson 5 collaborations
Kirsty McWalter 5 collaborations
Kay Metcalfe 4 collaborations
Jozef Gecz 4 collaborations
George J Burghel 4 collaborations
Kate E Chandler 4 collaborations
Sarah Hilton 4 collaborations
Anne-Sophie Denommé-Pichon 4 collaborations
Ange-Line Bruel 4 collaborations
Nicola Brunetti-Pierri 4 collaborations
Philippe M Campeau 4 collaborations
Tobias B Haack 4 collaborations
Raymond J Louie 4 collaborations
Giuseppe Merla 4 collaborations
Marielle Alders 4 collaborations
Sara Cuvertino 3 collaborations
Dian Donnai 3 collaborations
Mohnish Suri 3 collaborations
Gareth Baynam 3 collaborations
Zerin Hyder 3 collaborations
Charu Deshpande 3 collaborations
Shehla Mohammed 3 collaborations
Ronnie Wright 3 collaborations
Christopher Campbell 3 collaborations
Bronwyn Kerr 3 collaborations
Diana Baralle 3 collaborations
Christophe Philippe 3 collaborations
Reza Maroofian 3 collaborations
Marco Tartaglia 3 collaborations
Giuseppe Zampino 3 collaborations
Anju Shukla 3 collaborations
Sarah E Sheppard 3 collaborations
Dong Li 3 collaborations
Christiane Zweier 3 collaborations
Katharina Steindl 3 collaborations
Anita Rauch 3 collaborations
Frédéric Tran Mau-Them 3 collaborations
Cyril Mignot 3 collaborations
Alma Kuechler 3 collaborations
Jane Juusola 3 collaborations
Rolph Pfundt 3 collaborations
Bert B A de Vries 3 collaborations
Maja Hempel 3 collaborations
Tatjana Bierhals 3 collaborations
Paul J Benke 3 collaborations
Renee Perrier 3 collaborations
Alexander P A Stegmann 3 collaborations
Shelagh Joss 3 collaborations
Han G Brunner 3 collaborations
Lisenka E L M Vissers 3 collaborations
Tjitske Kleefstra 3 collaborations
Katrin Õunap 3 collaborations
Tiia Reimand 3 collaborations
Jill A Fahrner 3 collaborations
Michael A Levy 3 collaborations
Matthew L Tedder 3 collaborations
Alexander J M Dingemans 3 collaborations
Audrey Putoux 3 collaborations
Isabelle Thiffault 3 collaborations
Gijs W E Santen 3 collaborations
Rebecca Yarwood 2 collaborations
Simon Lovell 2 collaborations
Ype Elgersma 2 collaborations
Alice Gardham 2 collaborations
Valentina Cipriani 2 collaborations
Jana Vandrovcova 2 collaborations
Kenneth Poole 2 collaborations
Sarju G Mehta 2 collaborations
Huw B Thomas 2 collaborations
Raymond T O'Keefe 2 collaborations
Robert W Taylor 2 collaborations
Eleanor G Seaby 2 collaborations
Sian Ellard 2 collaborations
I Karen Temple 2 collaborations
Frances Flinter 2 collaborations
Jenny C Taylor 2 collaborations
Sanjeev S Bhaskar 2 collaborations
Suresh Somarathi 2 collaborations
David Gokhale 2 collaborations
Alexander J M Blakes 2 collaborations
Sarah Jenkinson 2 collaborations
Andrea Ciolfi 2 collaborations
Benjamin Cogné 2 collaborations
Rami Abou Jamra 2 collaborations
Yannis Duffourd 2 collaborations
Anand Saggar 2 collaborations
Kristina Zhelcheska 2 collaborations
Sylvie Odent 2 collaborations
Christel Thauvin 2 collaborations
Stephanie Efthymiou 2 collaborations
Mathilde Nizon 2 collaborations
Benjamin Cogne 2 collaborations
Tobias Bartolomaeus 2 collaborations
Dagmar Wieczorek 2 collaborations
Alice Goldenberg 2 collaborations
Katrina Tatton-Brown 2 collaborations
Matthew A Deardorff 2 collaborations
Bader Alhaddad 2 collaborations
Bertrand Isidor 2 collaborations
Amber Begtrup 2 collaborations
Rasa Traberg 2 collaborations
Pankaj B Agrawal 2 collaborations
Katta M Girisha 2 collaborations
Victor Faundes 2 collaborations
Xavier de la Cruz 2 collaborations
Naiara Akizu 2 collaborations
Dustin Baldridge 2 collaborations
John M Graham 2 collaborations
André Reis 2 collaborations
Martina Wilke 2 collaborations
Pascal Joset 2 collaborations
Sébastien Moutton 2 collaborations
Øyvind L Busk 2 collaborations
Elizabeth J Bhoj 2 collaborations
Elisabeth Schuler 2 collaborations
Steffen Syrbe 2 collaborations
Dmitrijs Rots 2 collaborations
Richard H van Jaarsveld 2 collaborations
Eloise J Prijoles 2 collaborations
Matias Wagner 2 collaborations
Margje Sinnema 2 collaborations
Nicola Foulds 2 collaborations
Miriam Bertrand 2 collaborations
Tony Roscioli 2 collaborations
Anna C E Hurst 2 collaborations
Jozef Hertecant 2 collaborations
Sally Ann Lynch 2 collaborations
Gabriella Maria Squeo 2 collaborations
Daniel Weisberg 2 collaborations
David B Beck 2 collaborations
Hannah W Moore 2 collaborations
Muhammad Ansar 2 collaborations
Sivagamy Sithambaram 2 collaborations
Trudie Cottrell 2 collaborations
Marie-Christine Nougues 2 collaborations
G Bradley Schaefer 2 collaborations
Roberto Bonasio 2 collaborations
Gurdeep Kaur 2 collaborations
Jeevraj Dhaka 2 collaborations
Sweta Banka 2 collaborations
Bettina E Mucha 2 collaborations
Norbert Fonya Ajeawung 2 collaborations
Sirinart Molidperee 2 collaborations
Gary G Chen 2 collaborations
Mary Kay Koenig 2 collaborations
Rhamat B Adejumo 2 collaborations
Marianne Till 2 collaborations
Michael Harbord 2 collaborations
Emmanuelle Lemyre 2 collaborations
Renee-Myriam Boucher 2 collaborations
Brian G Skotko 2 collaborations
Jessica L Waxler 2 collaborations
Mary Ann Thomas 2 collaborations
Jennelle C Hodge 2 collaborations
Jillian Nicholl 2 collaborations
Lesley McGregor 2 collaborations
Tobias Linden 2 collaborations
Sanjay M Sisodiya 2 collaborations
Damien Sanlaville 2 collaborations
Sau W Cheung 2 collaborations
Carl Ernst 2 collaborations
Julie Fleischer 2 collaborations
Catherine Kiraly-Borri 2 collaborations
Cornelia Kraus 2 collaborations
Paul Mark 2 collaborations
Hakon Hakonarson 2 collaborations
Pradeep Vasudevan 2 collaborations
M J Hajianpour 2 collaborations
Emilia K Bijlsma 2 collaborations
Ian Krantz 2 collaborations
Siddharth Srivastava 2 collaborations
Jessica Rzasa 2 collaborations
Raissa Relator 2 collaborations
Barbara R DuPont 2 collaborations
Timothy Fee 2 collaborations
Robin S Fletcher 2 collaborations
Peter Henneman 2 collaborations
Benjamin A Hilton 2 collaborations
Jennifer A Lee 2 collaborations
M Mahdi Motazacker 2 collaborations
Kellie K Walden 2 collaborations
Steven A Skinner 2 collaborations
Michael J Friez 2 collaborations
Manuel Schiff 2 collaborations
Wyatt W Yue 2 collaborations
Markus Zweier 2 collaborations
Anaïs Begemann 2 collaborations
Maryline Carneiro 2 collaborations
Gaetan Lesca 2 collaborations
John Henry McDermott 2 collaborations
Korbinian M Riedhammer 2 collaborations
Heinrich Sticht 2 collaborations
David J Amor 2 collaborations
Helen Stewart 2 collaborations
Simon A Jones 2 collaborations
Rahat Perveen 2 collaborations
Francesca Clementina Radio 2 collaborations
Alain Verloes 2 collaborations
David Goudie 2 collaborations
Ajoy Sarkar 2 collaborations
Michael Parker 2 collaborations
Orly Elpeleg 2 collaborations
Dihong Zhou 2 collaborations
Simone Pizzi 2 collaborations
Theresa Brunet 2 collaborations
Elke de Boer 2 collaborations
Usha Kini 2 collaborations
Arjan Bouman 2 collaborations
Meena Balasubramanian 2 collaborations
David Genevieve 2 collaborations
Astrid S Plomp 2 collaborations
Gerarda Cappuccio 2 collaborations
Renske Oegema 2 collaborations
Frédéric M Vaz 1 collaboration
John H McDermott 1 collaboration
Mariëlle Alders 1 collaboration
Saskia B Wortmann 1 collaboration
Stefan Kölker 1 collaboration
Mia L Pras-Raves 1 collaboration
Martin A T Vervaart 1 collaboration
Henk van Lenthe 1 collaboration
Angela C M Luyf 1 collaboration
Hyung L Elfrink 1 collaboration
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Martin P Lowe 1 collaboration
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