Benjamin Kamien

Meredith Wilson 6 collaborations

Tony Roscioli 5 collaborations

Zornitza Stark 5 collaborations

Edwin P Kirk 4 collaborations

Alan Ma 4 collaborations

Dong Li 4 collaborations

Tiong Yang Tan 4 collaborations

David J Amor 3 collaborations

Alison Colley 3 collaborations

Nicholas Pachter 3 collaborations

Patrick Yap 3 collaborations

None None 3 collaborations

Sebastian Lunke 3 collaborations

Sarah A Sandaradura 3 collaborations

Matthew F Hunter 3 collaborations

Mary-Louise Freckmann 3 collaborations

John Christodoulou 3 collaborations

Anne Turner 3 collaborations

Hakon Hakonarson 3 collaborations

Chirag Patel 3 collaborations

Alexander J M Dingemans 3 collaborations

Royston Ong 2 collaborations

Kirsten Boggs 2 collaborations

Ben Kamien 2 collaborations

Madhura Bakshi 2 collaborations

Robyn V Jamieson 2 collaborations

Jan Liebelt 2 collaborations

Sulekha Rajagopalan 2 collaborations

Mark Davis 2 collaborations

Samantha Edwards 2 collaborations

Nigel G Laing 2 collaborations

Sharron Townshend 2 collaborations

Cyril Mignot 2 collaborations

Elise Brischoux-Boucher 2 collaborations

Annelies Dheedene 2 collaborations

Jozef Gecz 2 collaborations

Laurent Villard 2 collaborations

Joshua S Clayton 2 collaborations

Gianina Ravenscroft 2 collaborations

Sophie E Bouffler 2 collaborations

Chirag V Patel 2 collaborations

Jason Pinner 2 collaborations

Mathew Wallis 2 collaborations

Tiong Y Tan 2 collaborations

Karin S Kassahn 2 collaborations

Thuong Ha 2 collaborations

Peer Arts 2 collaborations

Matilda R Jackson 2 collaborations

Hamish S Scott 2 collaborations

Michelle Ward 2 collaborations

Alison G Compton 2 collaborations

David R Thorburn 2 collaborations

Rupendra Shrestha 2 collaborations

Deborah Schofield 2 collaborations

Carey-Anne Evans 2 collaborations

Ying Zhu 2 collaborations

Lesley C Adès 2 collaborations

David Mowat 2 collaborations

George McGillivray 2 collaborations

Natasha J Brown 2 collaborations

Lisa J Ewans 2 collaborations

George Elakis 2 collaborations

Michael Field 2 collaborations

Michael F Buckley 2 collaborations

Anne O'Donnell-Luria 2 collaborations

Joanna Kennedy 2 collaborations

David Goudie 2 collaborations

Edward Blair 2 collaborations

Kate Chandler 2 collaborations

Shelagh Joss 2 collaborations

Victoria McKay 2 collaborations

Andrew Green 2 collaborations

Ruth Armstrong 2 collaborations

Melissa Lees 2 collaborations

Bruce Hopper 2 collaborations

Nobuhiko Okamoto 2 collaborations

Noriko Miyake 2 collaborations

Naomichi Matsumoto 2 collaborations

Ellen Macnamara 2 collaborations

Jennifer L Murphy 2 collaborations

Elizabeth McCormick 2 collaborations

Marni J Falk 2 collaborations

Patrick Blackburn 2 collaborations

Eric Klee 2 collaborations

Dusica Babovic-Vuksanovic 2 collaborations

Susan Schelley 2 collaborations

Louanne Hudgins 2 collaborations

Sarina Kant 2 collaborations

Bertrand Isidor 2 collaborations

Benjamin Cogne 2 collaborations

Kimberley Bradbury 2 collaborations

Mark Williams 2 collaborations

Helen Heussler 2 collaborations

Celia Duff-Farrier 2 collaborations

Phillis Lakeman 2 collaborations

Ingrid Scurr 2 collaborations

Usha Kini 2 collaborations

Mariet Elting 2 collaborations

Margot Reijnders 2 collaborations

Janneke Schuurs-Hoeijmakers 2 collaborations

Mohamed Wafik 2 collaborations

Anne Blomhoff 2 collaborations

Claudia A L Ruivenkamp 2 collaborations

Esther Nibbeling 2 collaborations

Emilie D Douine 2 collaborations

Stanley F Nelson 2 collaborations

Maja Hempel 2 collaborations

Tatjana Bierhals 2 collaborations

Davor Lessel 2 collaborations

Jessika Johannsen 2 collaborations

Valerie A Arboleda 2 collaborations

Ruth Newbury-Ecob 2 collaborations

Cathryn Poulton 2 collaborations

Andre E Minoche 2 collaborations

Mark J Cowley 2 collaborations

Marcel E Dinger 2 collaborations

Tristan Hardy 1 collaboration

Sarah Righetti 1 collaboration

Clara W T Chung 1 collaboration

Anja Ravine 1 collaboration

Jade Caruana 1 collaboration

Rachael Casella 1 collaboration

Alison Archibald 1 collaboration

Julie McGaughran 1 collaboration

Ainsley J Newson 1 collaboration

Martin B Delatycki 1 collaboration

Rebecca C Ahrens-Nicklas 1 collaboration

Janice Baker 1 collaboration

Vikas Bhambhani 1 collaboration

Amy Calhoun 1 collaboration

Julie S Cohen 1 collaboration

Matthew A Deardorff 1 collaboration

Alberto Fernández-Jaén 1 collaboration

Mahim Jain 1 collaboration

Fiona Mckenzie 1 collaboration

Mark Mintz 1 collaboration

Constance Motter 1 collaboration

Kirsten Niles 1 collaboration

Alyssa Ritter 1 collaboration

Curtis Rogers 1 collaboration

Maian Roifman 1 collaboration

Catherine Ward-Melver 1 collaboration

Samantha A Schrier Vergano 1 collaboration

Sandra Whalen 1 collaboration

Marie Shaw 1 collaboration

Delphine Héron 1 collaboration

Sandra Chantot Bastaraud 1 collaboration

Cecile Cieuta Walti 1 collaboration

Frances Elmslie 1 collaboration

Jane Hurst 1 collaboration

Elisabeth Forsythe 1 collaboration

Brian Kirmse 1 collaboration

Jillian Ozmore 1 collaboration

Alessandro Mauro Spinelli 1 collaboration

Olga Calabrese 1 collaboration

Thierry Billette de Villemeur 1 collaboration

Anne Claude Tabet 1 collaboration

Jonathan Levy 1 collaboration

Agnes Guet 1 collaboration

Manoëlle Kossorotoff 1 collaboration

Jenny Morton 1 collaboration

Anne McCabe 1 collaboration

Annick Raas-Rothschild 1 collaboration

Antonella Pini 1 collaboration

Renée Carroll 1 collaboration

Jessica N Hartley 1 collaboration

Patrick Frosk 1 collaboration

Anne Slavotinek 1 collaboration

Kristen Truxal 1 collaboration

Carroll Jennifer 1 collaboration

Hong Cui 1 collaboration

Vishal Kumar 1 collaboration

Glen Thomson 1 collaboration

Florence Riccardi 1 collaboration

Han-Shin Lee 1 collaboration

Disna Abeysuriya 1 collaboration

Elyshia McNamara 1 collaboration

Jelena Martinovic 1 collaboration

Marie Gonzales 1 collaboration

Judith Melki 1 collaboration

Christopher P Barnett 1 collaboration

Belinda Chong 1 collaboration

Dean Phelan 1 collaboration

David Francis 1 collaboration

Song Gao 1 collaboration

Stefanie Eggers 1 collaboration

Simone Rowley 1 collaboration

Ana Rakonjac 1 collaboration

Gemma R Brett 1 collaboration

Michelle G de Silva 1 collaboration

Amanda Springer 1 collaboration

Kirsty Stallard 1 collaboration

Cas Simons 1 collaboration

Thomas Conway 1 collaboration

Andreas Halman 1 collaboration

Nicole J Van Bergen 1 collaboration

Tim Sikora 1 collaboration

Liana N Semcesen 1 collaboration

David A Stroud 1 collaboration

Katrina M Bell 1 collaboration

Simon Sadedin 1 collaboration

Kathryn N North 1 collaboration

Kerith-Rae Dias 1 collaboration

Emily O'Heir 1 collaboration

Futao Zhang 1 collaboration

Krystle Standen 1 collaboration

Ben Weisburd 1 collaboration

Sarah L Stenton 1 collaboration

Alba Sanchis-Juan 1 collaboration

Harrison Brand 1 collaboration

Michael E Talkowski 1 collaboration

Sondy Ghedia 1 collaboration

Janine Smith 1 collaboration

Matthew Regan 1 collaboration

Ravi Savarirayan 1 collaboration

Susan M White 1 collaboration

Luis A Pérez-Jurado 1 collaboration

Emma Krzesinski 1 collaboration

Lauren Akesson 1 collaboration

Andrew Paul Fennell 1 collaboration

Alison Yeung 1 collaboration

Tiffany Boughtwood 1 collaboration

Jennifer Kerkhof 1 collaboration

Christopher Lucas 1 collaboration

Louise Carey 1 collaboration

Hugh French 1 collaboration

Melissa Rapadas 1 collaboration

Igor Stevanovski 1 collaboration

Ira W Deveson 1 collaboration

Corrina Cliffe 1 collaboration

Tracy Dudding-Byth 1 collaboration

Janice Fletcher 1 collaboration

Rebecca Walsh 1 collaboration

Mark A Corbett 1 collaboration

Thessa Kroes 1 collaboration

Cliff Meldrum 1 collaboration

Simon Cliffe 1 collaboration

Meg Wall 1 collaboration

Kathryn North 1 collaboration

Bekim Sadikovic 1 collaboration

Megan Ball 1 collaboration

Christopher B Barnett 1 collaboration

Rachel Ng 1 collaboration

Dilharan Eliezer 1 collaboration

Ricardo Vilain 1 collaboration

Aniruddh V Deshpande 1 collaboration

Gina Ravenscroft 1 collaboration

Fathimath Faiz 1 collaboration

Padma Sivadorai 1 collaboration

Di Milnes 1 collaboration

Rob Cincotta 1 collaboration

Phillip Moon 1 collaboration

Matthew Edwards 1 collaboration

Martin Delatycki 1 collaboration

Phillipa J Lamont 1 collaboration

Sophelia Hs Chan 1 collaboration

Felicity Collins 1 collaboration

Lucinda Hennington 1 collaboration

Teresa Zhao 1 collaboration

Sondhya Ghedia 1 collaboration

Katherine Chao 1 collaboration

Mark R Davis 1 collaboration

Doriana Misceo 1 collaboration

Lokuliyanage Dona Samudita Senaratne 1 collaboration

Inger-Lise Mero 1 collaboration

Arvind Y M Sundaram 1 collaboration

Pål Marius Bjørnstad 1 collaboration

Krzysztof Szczałuba 1 collaboration

Piotr Gasperowicz 1 collaboration

Bård Nedregaard 1 collaboration

Asbjørn Holmgren 1 collaboration

Petter Strømme 1 collaboration

Eirik Frengen 1 collaboration

Ethiraj Ravindran 1 collaboration

Ramona Jühlen 1 collaboration

Carlos H Vieira-Vieira 1 collaboration

Yuval Salzberg 1 collaboration

Boris Fichtman 1 collaboration

Lena Luise-Becker 1 collaboration

Nuno Martins 1 collaboration

Sylvie Picker-Minh 1 collaboration

Paraskevi Bessa 1 collaboration

Ajay Taranath 1 collaboration

Christopher Barnett 1 collaboration

Na Li 1 collaboration

Victor Tarabykin 1 collaboration

Gisela Stoltenburg-Didinger 1 collaboration

Amnon Harel 1 collaboration

Matthias Selbach 1 collaboration

Achim Dickmanns 1 collaboration

Birthe Fahrenkrog 1 collaboration

Hao Hu 1 collaboration

Hamish Scott 1 collaboration

Angela M Kaindl 1 collaboration

Camille Engel 1 collaboration

Stéphanie Valence 1 collaboration

Geoffroy Delplancq 1 collaboration

Reza Maroofian 1 collaboration

Andrea Accogli 1 collaboration

Emanuele Agolini 1 collaboration

Fowzan S Alkuraya 1 collaboration

Valentina Baglioni 1 collaboration

Irene Bagnasco 1 collaboration

Mathilde Becmeur-Lefebvre 1 collaboration

Enrico Bertini 1 collaboration

Ingo Borggraefe 1 collaboration

Ange-Line Bruel 1 collaboration

Alfredo Brusco 1 collaboration

Dalal K Bubshait 1 collaboration

Christelle Cabrol 1 collaboration

Maria Roberta Cilio 1 collaboration

Marie-Coralie Cornet 1 collaboration

Christine Coubes 1 collaboration

Olivier Danhaive 1 collaboration

Valérie Delague 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Marilena Carmela Di Giacomo 1 collaboration

Martine Doco-Fenzy 1 collaboration

Hartmut Engels 1 collaboration

Kirsten Cremer 1 collaboration

Marion Gérard 1 collaboration

Joseph G Gleeson 1 collaboration

Delphine Heron 1 collaboration

Joanna Goffeney 1 collaboration

Anne Guimier 1 collaboration

Frederike L Harms 1 collaboration

Henry Houlden 1 collaboration

Michele Iacomino 1 collaboration

Rauan Kaiyrzhanov 1 collaboration

Ehsan Ghayoor Karimiani 1 collaboration

Dror Kraus 1 collaboration

Paul Kuentz 1 collaboration

Kerstin Kutsche 1 collaboration

Damien Lederer 1 collaboration

Lauren Massingham 1 collaboration

Déborah Morris-Rosendahl 1 collaboration

Lakshmi Nagarajan 1 collaboration

Sylvie Odent 1 collaboration

Clothilde Ormières 1 collaboration

Jennifer Neil Partlow 1 collaboration

Laurent Pasquier 1 collaboration

Lynette Penney 1 collaboration

Christophe Philippe 1 collaboration

Gianluca Piccolo 1 collaboration

Audrey Putoux 1 collaboration

Marlène Rio 1 collaboration

Christelle Rougeot 1 collaboration

Vincenzo Salpietro 1 collaboration

Ingrid Scheffer 1 collaboration

Amy Schneider 1 collaboration

Siddharth Srivastava 1 collaboration

Rachel Straussberg 1 collaboration

Pasquale Striano 1 collaboration

Enza Maria Valente 1 collaboration

Perrine Venot 1 collaboration

Antonio Vitobello 1 collaboration

Johanna Wagner 1 collaboration

Matias Wagner 1 collaboration

Maha S Zaki 1 collaboration

Federizo Zara 1 collaboration

Gaetan Lesca 1 collaboration

Vahid Reza Yassaee 1 collaboration

Mohammad Miryounesi 1 collaboration

Farzad Hashemi-Gorji 1 collaboration

Mehran Beiraghi 1 collaboration

Farah Ashrafzadeh 1 collaboration

Hamid Galehdari 1 collaboration

Christopher Walsh 1 collaboration

Antonio Novelli 1 collaboration

Moritz Tacke 1 collaboration

Dinara Sadykova 1 collaboration

Yerdan Maidyrov 1 collaboration

Kairgali Koneev 1 collaboration

Chingiz Shashkin 1 collaboration

Valeria Capra 1 collaboration

Mina Zamani 1 collaboration

Lionel Van Maldergem 1 collaboration

Lydie Burglen 1 collaboration

Juliette Piard 1 collaboration

Timo Lassmann 1 collaboration

Richard W Francis 1 collaboration

Alexia Weeks 1 collaboration

Dave Tang 1 collaboration

Sarra E Jamieson 1 collaboration

Stephanie Broley 1 collaboration

Hugh J S Dawkins 1 collaboration

Lauren Dreyer 1 collaboration

Jack Goldblatt 1 collaboration

Tudor Groza 1 collaboration

Cathy Kiraly-Borri 1 collaboration

Fiona McKenzie 1 collaboration

Lesley Murphy 1 collaboration

Gargi Pathak 1 collaboration

Amanda Samanek 1 collaboration

Rachel Skoss 1 collaboration

Jennie Slee 1 collaboration

Gareth S Baynam 1 collaboration

Jenefer M Blackwell 1 collaboration

Michael E March 1 collaboration

Paola Fortugno 1 collaboration

Liza L Cox 1 collaboration

Leticia S Matsuoka 1 collaboration

Rosanna Monetta 1 collaboration

Christoph Seiler 1 collaboration

Louise C Pyle 1 collaboration

Emma C Bedoukian 1 collaboration

María José Sánchez-Soler 1 collaboration

Oana Caluseriu 1 collaboration

Katheryn Grand 1 collaboration

Allison Tam 1 collaboration

Alicia R P Aycinena 1 collaboration

Letizia Camerota 1 collaboration

Yiran Guo 1 collaboration

Patrick Sleiman 1 collaboration

Bert Callewaert 1 collaboration

Candy Kumps 1 collaboration

Michael Buckley 1 collaboration

Timothy C Cox 1 collaboration

Elaine H Zackai 1 collaboration

Francesco Brancati 1 collaboration

Elizabeth J Bhoj 1 collaboration

Denise Howting 1 collaboration

Karen Harrop 1 collaboration

Michael Fietz 1 collaboration

John Beilby 1 collaboration

Nigel Laing 1 collaboration

Saira Yousoof 1 collaboration

John R Grigg 1 collaboration

Maree Flaherty 1 collaboration

Benjamin M Nash 1 collaboration

Gladys Ho 1 collaboration

Thet Gayagay 1 collaboration

Tiffany Lai 1 collaboration

Elizabeth Farnsworth 1 collaboration

Emma L Hackett 1 collaboration

Katrina Fisk 1 collaboration

Karen Wong 1 collaboration

Katherine J Holman 1 collaboration

Gemma Jenkins 1 collaboration

Anson Cheng 1 collaboration

Frank Martin 1 collaboration

Tanya Karaconji 1 collaboration

James E Elder 1 collaboration

Annabelle Enriquez 1 collaboration

Chloe A Stutterd 1 collaboration

John Nelson 1 collaboration

Bruce Bennetts 1 collaboration

Jet van der Spek 1 collaboration

Joery den Hoed 1 collaboration

Lot Snijders Blok 1 collaboration

Dick Schijven 1 collaboration

Christoffer Nellaker 1 collaboration

Hanka Venselaar 1 collaboration

Galuh D N Astuti 1 collaboration

Tahsin Stefan Barakat 1 collaboration

E Martina Bebin 1 collaboration

Stefanie Beck-Wödl 1 collaboration

Gea Beunders 1 collaboration

Theresa Brunet 1 collaboration

Han G Brunner 1 collaboration

Philippe M Campeau 1 collaboration

Goran Čuturilo 1 collaboration

Christian Gilissen 1 collaboration

Tobias B Haack 1 collaboration

Irina Hüning 1 collaboration

Ralf A Husain 1 collaboration

Sze Chern Lim 1 collaboration

Luca Lovrecic 1 collaboration

Janine Magg 1 collaboration

Ales Maver 1 collaboration

Valancy Miranda 1 collaboration

Danielle C Monteil 1 collaboration

Charlotte W Ockeloen 1 collaboration

Lynn S Pais 1 collaboration

Vasilica Plaiasu 1 collaboration

Laura Raiti 1 collaboration

Christopher Richmond 1 collaboration

Angelika Rieß 1 collaboration

Eva M C Schwaibold 1 collaboration

Marleen E H Simon 1 collaboration

Stephanie Spranger 1 collaboration

Michelle L Thompson 1 collaboration

Bert B A de Vries 1 collaboration

Ella J Wilkins 1 collaboration

Marjolein H Willemsen 1 collaboration

Clyde Francks 1 collaboration

Lisenka E L M Vissers 1 collaboration

Simon E Fisher 1 collaboration

Tjitske Kleefstra 1 collaboration

Clare Puttick 1 collaboration

Alexander Drew 1 collaboration

Velimir Gayevskiy 1 collaboration

Corrina Walsh 1 collaboration

Carolyn Ellaway 1 collaboration

Linda Goodwin 1 collaboration

Anna Hackett 1 collaboration

Michelle Lipke 1 collaboration

Elizabeth Palmer 1 collaboration

Anne Ronan 1 collaboration

Rani Sachdev 1 collaboration

William Stevenson 1 collaboration

Lisa Worgan 1 collaboration

Marie-Christine Morel-Kopp 1 collaboration

Dora Batia Dyne Steel 1 collaboration

Federica Rachele Danti 1 collaboration

Mohamed Abunada 1 collaboration

Sony Malhotra 1 collaboration

Maya Topf 1 collaboration

Marios Kaliakatsos 1 collaboration

Jane Valentine 1 collaboration

Andrea Hilary Nemeth 1 collaboration

Sandeep Jayawant 1 collaboration

Kimberley M Reid 1 collaboration

Kshitij Mankad 1 collaboration

Sniya Sudhakar 1 collaboration

Hilla Ben-Pazi 1 collaboration

Katy Barwick 1 collaboration

Manju A Kurian 1 collaboration

Affiliations

Publications (21)

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

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

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

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

Critically unwell infants and children with mitochondrial disorders diagnosed by ultra-rapid genomic sequencing.

Fatal Exsanguination Following Rupture of an Iliac Artery Aneurysm in an Infant With Menkes Disease.

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Novel Loss of Function Variants in

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic

Réseau de co-auteurs