Haloom Rafehi

Melanie Bahlo 15 collaborations

Martin B Delatycki 7 collaborations

Paul J Lockhart 7 collaborations

Mark F Bennett 6 collaborations

Greta Gillies 5 collaborations

Assam El-Osta 4 collaborations

David J Szmulewicz 3 collaborations

Kate Pope 3 collaborations

Ingrid E Scheffer 3 collaborations

Mathew Wallis 3 collaborations

Samuel F Berkovic 3 collaborations

Mark Ziemann 3 collaborations

Antony Kaspi 3 collaborations

Peter Diakumis 2 collaborations

Egor Dolzhenko 2 collaborations

Michael A Eberle 2 collaborations

Brent L Fogel 2 collaborations

Elsdon Storey 2 collaborations

David J Amor 2 collaborations

Natasha J Brown 2 collaborations

Kiymet Bozaoglu 2 collaborations

Dhamidhu Eratne 2 collaborations

Amy Schneider 2 collaborations

Eloise Uebergang 2 collaborations

Aamira Huq 2 collaborations

Mirja Thomsen 2 collaborations

Sabine Kaya 2 collaborations

Christel Depienne 2 collaborations

Katja Lohmann 2 collaborations

Ishant Khurana 2 collaborations

Susan M White 2 collaborations

Michael S Hildebrand 2 collaborations

John Christodoulou 2 collaborations

Harikrishnan Kaipananickal 2 collaborations

Kayli C Davies 2 collaborations

Mathew J Wallis 2 collaborations

Mark A Corbett 2 collaborations

Thessa Kroes 2 collaborations

Jozef Gecz 2 collaborations

Nara L M Sobreira 1 collaboration

Katherine R Smith 1 collaboration

María García Barcina 1 collaboration

David P Breen 1 collaboration

Andrew M Chancellor 1 collaboration

Phillip D Cremer 1 collaboration

Anna Hackett 1 collaboration

G Michael Halmagyi 1 collaboration

Solange Kapetanovic 1 collaboration

Anthony Lang 1 collaboration

Stuart Mossman 1 collaboration

Weiyi Mu 1 collaboration

Peter Patrikios 1 collaboration

Susan L Perlman 1 collaboration

Ian Rosemergy 1 collaboration

Shaun R D Watson 1 collaboration

Michael A Wilson 1 collaboration

David S Zee 1 collaboration

David Valle 1 collaboration

Rhett G Marchant 1 collaboration

Samantha J Bryen 1 collaboration

Anita Cairns 1 collaboration

Katherine R Chao 1 collaboration

Alastair Corbett 1 collaboration

Mark R Davis 1 collaboration

Vijay S Ganesh 1 collaboration

Roula Ghaoui 1 collaboration

Kristi J Jones 1 collaboration

Andrew J Kornberg 1 collaboration

Monkol Lek 1 collaboration

Christina Liang 1 collaboration

Daniel G MacArthur 1 collaboration

Emily C Oates 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Gina L O'Grady 1 collaboration

Ikeoluwa A Osei-Owusu 1 collaboration

Stephen W Reddel 1 collaboration

Richard H Roxburgh 1 collaboration

Monique M Ryan 1 collaboration

Sarah A Sandaradura 1 collaboration

Liam W Scott 1 collaboration

Elise Valkanas 1 collaboration

Ben Weisburd 1 collaboration

Helen Young 1 collaboration

Frances J Evesson 1 collaboration

Leigh B Waddell 1 collaboration

Sandra T Cooper 1 collaboration

Miriam Fanjul-Fernández 1 collaboration

Peter Hickey 1 collaboration

Cherie C Green 1 collaboration

Audrey Rattray 1 collaboration

Savannah Young 1 collaboration

Dana Alhuzaimi 1 collaboration

Hayley S Mountford 1 collaboration

Vesna Lukic 1 collaboration

Tanya Vick 1 collaboration

Keri Finlay 1 collaboration

Bradley P Coe 1 collaboration

Evan E Eichler 1 collaboration

Sarah J Wilson 1 collaboration

Ella Lynch 1 collaboration

Melissa Martyn 1 collaboration

Dennis Velakoulis 1 collaboration

Michael Fahey 1 collaboration

Patrick Kwan 1 collaboration

Richard Leventer 1 collaboration

Belinda Chong 1 collaboration

Zornitza Stark 1 collaboration

Sebastian Lunke 1 collaboration

Dean G Phelan 1 collaboration

Melanie O'Keefe 1 collaboration

Kirby Siemering 1 collaboration

Kirsty West 1 collaboration

Adrienne Sexton 1 collaboration

Anna Jarmolowicz 1 collaboration

Jessica A Taylor 1 collaboration

Joshua Schultz 1 collaboration

Rebecca Purvis 1 collaboration

Heather Chalinor 1 collaboration

Belinda Creighton 1 collaboration

Nikki Gelfand 1 collaboration

Tamar Saks 1 collaboration

Yael Prawer 1 collaboration

Yana Smagarinsky 1 collaboration

Tianxin Pan 1 collaboration

Ilias Goranitis 1 collaboration

Zanfina Ademi 1 collaboration

Clara Gaff 1 collaboration

Maie Walsh 1 collaboration

Paul A James 1 collaboration

Emma I Krzesinski 1 collaboration

Chloe A Stutterd 1 collaboration

Angela Rosenbohm 1 collaboration

Hendrik Pott 1 collaboration

Silke Szymczak 1 collaboration

Alexander E Volk 1 collaboration

Kathrin Mueller 1 collaboration

Isabel Silveira 1 collaboration

Jochen H Weishaupt 1 collaboration

Holger Tönnies 1 collaboration

Philip Seibler 1 collaboration

Katja Zschiedrich 1 collaboration

Susen Schaake 1 collaboration

Ana Westenberger 1 collaboration

Christine Zühlke 1 collaboration

Joanne Trinh 1 collaboration

Albert C Ludolph 1 collaboration

Christine Klein 1 collaboration

Tom C Karagiannis 1 collaboration

Meaghan Wall 1 collaboration

Katherine Ververis 1 collaboration

Eleni Pitsillou 1 collaboration

Stephanie M Tortorella 1 collaboration

Peter A Wood 1 collaboration

Scott S Maxwell 1 collaboration

Andrew Hung 1 collaboration

Jitraporn Vongsvivut 1 collaboration

My-Nhan Nguyen 1 collaboration

Helen Kiriazis 1 collaboration

Yidan Su 1 collaboration

Zara Thomas 1 collaboration

Qun Lu 1 collaboration

Daniel G Donner 1 collaboration

Wei-Bo Zhao 1 collaboration

Junichi Sadoshima 1 collaboration

Julie R McMullen 1 collaboration

Xiao-Jun Du 1 collaboration

Simon D Bodek 1 collaboration

Jacob Munro 1 collaboration

Zimeng Ye 1 collaboration

Fiona Gardiner 1 collaboration

Giulia Valente 1 collaboration

Emma Murdoch 1 collaboration

Jacquie Hunter 1 collaboration

Chloe Stutterd 1 collaboration

Lucinda Salmon 1 collaboration

Ingrid Scheffer 1 collaboration

Stephen Meyn 1 collaboration

Chun Y Fong 1 collaboration

Tom John 1 collaboration

Saul Mullen 1 collaboration

George McGillivray 1 collaboration

Jesse Chen 1 collaboration

Chris Richmond 1 collaboration

Andrew Hughes 1 collaboration

Emma Krzesinski 1 collaboration

Andrew Fennell 1 collaboration

Brian Chambers 1 collaboration

Renee Santoreneos 1 collaboration

Anna Le Fevre 1 collaboration

Martin Delatycki 1 collaboration

Choon Boon Sim 1 collaboration

Belinda Phipson 1 collaboration

Richard J Mills 1 collaboration

Kevin I Watt 1 collaboration

Kwaku D Abu-Bonsrah 1 collaboration

Ravi K R Kalathur 1 collaboration

Holly K Voges 1 collaboration

Doan T Dinh 1 collaboration

Menno Ter Huurne 1 collaboration

Celine J Vivien 1 collaboration

Alejandro Hidalgo 1 collaboration

Leanne M D Delbridge 1 collaboration

Rebecca L Robker 1 collaboration

Paul Gregorevic 1 collaboration

Cristobal G Dos Remedios 1 collaboration

Sean Lal 1 collaboration

Adam T Piers 1 collaboration

Igor E Konstantinov 1 collaboration

David A Elliott 1 collaboration

Alicia Oshlack 1 collaboration

James E Hudson 1 collaboration

Enzo R Porrello 1 collaboration

Malene Brohus 1 collaboration

Todor Arsov 1 collaboration

David A Wallace 1 collaboration

Helene Halkjær Jensen 1 collaboration

Mette Nyegaard 1 collaboration

Lia Crotti 1 collaboration

Marcin Adamski 1 collaboration

Yafei Zhang 1 collaboration

Matt A Field 1 collaboration

Vicki Athanasopoulos 1 collaboration

Isabelle Baró 1 collaboration

Bárbara B Ribeiro de Oliveira-Mendes 1 collaboration

Richard Redon 1 collaboration

Flavien Charpentier 1 collaboration

Hariharan Raju 1 collaboration

Deborah DiSilvestre 1 collaboration

Jinhong Wei 1 collaboration

Ruiwu Wang 1 collaboration

Ivy E Dick 1 collaboration

Sui Rong Wayne Chen 1 collaboration

Matthew C Cook 1 collaboration

Carola G Vinuesa 1 collaboration

Michael Toft Overgaard 1 collaboration

Peter J Schwartz 1 collaboration

Mathieu Barbier 1 collaboration

Alessandra Pennisi 1 collaboration

Maxime Jacoupy 1 collaboration

Rick M Tankard 1 collaboration

Claire Ewenczyk 1 collaboration

Patricia Lino-Coulon 1 collaboration

Claire Colace 1 collaboration

Nicolas Auger 1 collaboration

Brendan R E Ansell 1 collaboration

Ivo van der Stelt 1 collaboration

Katherine B Howell 1 collaboration

Marie Coutelier 1 collaboration

Emeline Mundwiller 1 collaboration

Lena Guillot-Noël 1 collaboration

R J McKinlay Gardner 1 collaboration

Alfredo Brusco 1 collaboration

Olga Corti 1 collaboration

Agnès Rötig 1 collaboration

Richard J Leventer 1 collaboration

Alexis Brice 1 collaboration

Giovanni Stevanin 1 collaboration

Alexandra Durr 1 collaboration

Scott Maxwell 1 collaboration

Sørine Birkelund 1 collaboration

Anna Syreeni 1 collaboration

Carol Forsblom 1 collaboration

Jun Okabe 1 collaboration

Anne Jørgensen 1 collaboration

Keith Al-Hasani 1 collaboration

Merlin C Thomas 1 collaboration

Guozhi Jiang 1 collaboration

Andrea Oy Luk 1 collaboration

Heung Man Lee 1 collaboration

Yu Huang 1 collaboration

Yotsapon Thewjitcharoen 1 collaboration

Soontaree Nakasatien 1 collaboration

Thep Himathongkam 1 collaboration

Christopher Fogarty 1 collaboration

Rachel Njeim 1 collaboration

Assaad Eid 1 collaboration

Tine Willum Hansen 1 collaboration

Nete Tofte 1 collaboration

Evy C Ottesen 1 collaboration

Ronald Cw Ma 1 collaboration

Juliana Cn Chan 1 collaboration

Mark E Cooper 1 collaboration

Peter Rossing 1 collaboration

Per-Henrik Groop 1 collaboration

Karen L Oliver 1 collaboration

Brigid M Regan 1 collaboration

Susannah T Bellows 1 collaboration

Amy L Schneider 1 collaboration

Neblina Sikta 1 collaboration

Douglas E Crompton 1 collaboration

Matthew Coleman 1 collaboration

Rahel T Florian 1 collaboration

Florian Kraft 1 collaboration

Elsa Leitão 1 collaboration

Stephan Klebe 1 collaboration

Eloi Magnin 1 collaboration

Anne-Fleur van Rootselaar 1 collaboration

Julien Buratti 1 collaboration

Theresa Kühnel 1 collaboration

Christopher Schröder 1 collaboration

Sebastian Giesselmann 1 collaboration

Nikolai Tschernoster 1 collaboration

Janine Altmueller 1 collaboration

Anaide Lamiral 1 collaboration

Boris Keren 1 collaboration

Caroline Nava 1 collaboration

Delphine Bouteiller 1 collaboration

Sylvie Forlani 1 collaboration

Ludmila Jornea 1 collaboration

Regina Kubica 1 collaboration

Tao Ye 1 collaboration

Damien Plassard 1 collaboration

Bernard Jost 1 collaboration

Vincent Meyer 1 collaboration

Jean-François Deleuze 1 collaboration

Yannick Delpu 1 collaboration

Mario D M Avarello 1 collaboration

Lisanne S Vijfhuizen 1 collaboration

Gabrielle Rudolf 1 collaboration

Edouard Hirsch 1 collaboration

Philipp S Reif 1 collaboration

Felix Rosenow 1 collaboration

Christos Ganos 1 collaboration

Marie Vidailhet 1 collaboration

Lionel Thivard 1 collaboration

Alexandre Mathieu 1 collaboration

Thomas Bourgeron 1 collaboration

Ingo Kurth 1 collaboration

Laura Steenpass 1 collaboration

Bernhard Horsthemke 1 collaboration

None None 1 collaboration

Eric LeGuern 1 collaboration

Karl Martin Klein 1 collaboration

Pierre Labauge 1 collaboration

Marina A J Tijssen 1 collaboration

Arn M J M van den Maagdenberg 1 collaboration

Sarah Em Stephenson 1 collaboration

Ruth Djaldetti 1 collaboration

Gabrielle R Wilson 1 collaboration

Cherie Green 1 collaboration

Justin Read 1 collaboration

Penny Snell 1 collaboration

Liam G Fearnley 1 collaboration

Liam Scott 1 collaboration

Jacob E Munro 1 collaboration

Kathie J Ngo 1 collaboration

Luke Chen 1 collaboration

Ernest G Butler 1 collaboration

Kishore R Kumar 1 collaboration

Kathy Hc Wu 1 collaboration

Susan E Tomlinson 1 collaboration

Stephen Tisch 1 collaboration

Abhishek Malhotra 1 collaboration

Matthew Lee-Archer 1 collaboration

Leslie J Roberts 1 collaboration

Norbert Brüggemann 1 collaboration

Affiliations

Publications (19)

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

A family study implicates GBE1 in the etiology of autism spectrum disorder.

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study.

Characterization of K562 cells: uncovering novel chromosomes, assessing transferrin receptor expression, and probing pharmacological therapies.

Galectin-3 deficiency ameliorates fibrosis and remodeling in dilated cardiomyopathy mice with enhanced Mst1 signaling.

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data.

Sex-Specific Control of Human Heart Maturation by the Progesterone Receptor.

Infanticide vs. inherited cardiac arrhythmias.

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

Reduced methylation correlates with diabetic nephropathy risk in type 1 diabetes.

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

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

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.

Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing.

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.

Réseau de co-auteurs