Stylianos E Antonarakis

Muhammad Ansar 5 collaborations

Emmanuelle Ranza 5 collaborations

Justyna Iwaszkiewicz 4 collaborations

Francesca Mattioli 3 collaborations

Periklis Makrythanasis 3 collaborations

Vincent Zoete 3 collaborations

Hossein Darvish 2 collaborations

Sohail Aziz Paracha 2 collaborations

Alexandre Reymond 2 collaborations

Gabrielle Lemire 2 collaborations

James R Lupski 2 collaborations

Christelle Borel 2 collaborations

Xavier Blanc 2 collaborations

Federico A Santoni 2 collaborations

Dustin Baldridge 2 collaborations

Brian G Skotko 1 collaboration

Michael S Rafii 1 collaboration

Andre Strydom 1 collaboration

Sarah E Pape 1 collaboration

Diana W Bianchi 1 collaboration

Stephanie L Sherman 1 collaboration

Roger H Reeves 1 collaboration

O Delaneau 1 collaboration

M Zazhytska 1 collaboration

C Borel 1 collaboration

G Giannuzzi 1 collaboration

G Rey 1 collaboration

C Howald 1 collaboration

S Kumar 1 collaboration

H Ongen 1 collaboration

K Popadin 1 collaboration

D Marbach 1 collaboration

G Ambrosini 1 collaboration

D Bielser 1 collaboration

D Hacker 1 collaboration

L Romano 1 collaboration

P Ribaux 1 collaboration

M Wiederkehr 1 collaboration

E Falconnet 1 collaboration

P Bucher 1 collaboration

S Bergmann 1 collaboration

S E Antonarakis 1 collaboration

A Reymond 1 collaboration

E T Dermitzakis 1 collaboration

Abbas Tafakhori 1 collaboration

Saghar Ghasemi Firouzabadi 1 collaboration

Marjan Chapi 1 collaboration

Hafiz Muhammad Azhar Baig 1 collaboration

Margaux Serey-Gaut 1 collaboration

Marisol Cortes 1 collaboration

Mohnish Suri 1 collaboration

Alexander M R Taylor 1 collaboration

Jennifer A Sullivan 1 collaboration

Ayat N Asleh 1 collaboration

Jaba Mitra 1 collaboration

Mohamad A Dar 1 collaboration

Amy McNamara 1 collaboration

Vandana Shashi 1 collaboration

Sarah Dugan 1 collaboration

Xiaofei Song 1 collaboration

Jill A Rosenfeld 1 collaboration

Christelle Cabrol 1 collaboration

Davut Pehlivan 1 collaboration

Zeynep Coban Akdemir 1 collaboration

Elizabeth R Roeder 1 collaboration

Rebecca Okashah Littlejohn 1 collaboration

Harpreet K Dibra 1 collaboration

Philip J Byrd 1 collaboration

Grant S Stewart 1 collaboration

Bilgen B Geckinli 1 collaboration

Jennifer Posey 1 collaboration

Rachel Westman 1 collaboration

Chelsy Jungbluth 1 collaboration

Jacqueline Eason 1 collaboration

Rani Sachdev 1 collaboration

Carey-Anne Evans 1 collaboration

Grace E VanNoy 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Aurélien Juven 1 collaboration

Juliette Piard 1 collaboration

Cheng Yee Nixon 1 collaboration

Ying Zhu 1 collaboration

Taekjip Ha 1 collaboration

Michael F Buckley 1 collaboration

Christel Thauvin 1 collaboration

George K Essien Umanah 1 collaboration

Lionel Van Maldergem 1 collaboration

Tony Roscioli 1 collaboration

Valina L Dawson 1 collaboration

Ted M Dawson 1 collaboration

Ke Mao 1 collaboration

Angad Jolly 1 collaboration

Christine Froehlich 1 collaboration

Bingqing Wang 1 collaboration

Xiaopeng Xu 1 collaboration

Qiang Li 1 collaboration

Hao Zhu 1 collaboration

Qi Chen 1 collaboration

Fujun Jin 1 collaboration

Harinarayana Ankamreddy 1 collaboration

Sunita Singh 1 collaboration

Hongyuan Zhang 1 collaboration

Xiaogang Wang 1 collaboration

Peiwei Chen 1 collaboration

Syed Fahim Shah 1 collaboration

Valentina Guida 1 collaboration

Francesca Piceci-Sparascio 1 collaboration

Daniela Melis 1 collaboration

Bruno Dallapiccola 1 collaboration

Maria Cristina Digilio 1 collaboration

Antonio Novelli 1 collaboration

Monia Magliozzi 1 collaboration

Maria Teresa Fadda 1 collaboration

Haley Streff 1 collaboration

Keren Machol 1 collaboration

Richard A Lewis 1 collaboration

Gabriella Maria Squeo 1 collaboration

Paolo Prontera 1 collaboration

Giorgia Mancano 1 collaboration

Giulia Gori 1 collaboration

Milena Mariani 1 collaboration

Angelo Selicorni 1 collaboration

Stavroula Psoni 1 collaboration

Helen Fryssira 1 collaboration

Sofia Douzgou 1 collaboration

Sandrine Marlin 1 collaboration

Saskia Biskup 1 collaboration

Alessandro De Luca 1 collaboration

Giuseppe Merla 1 collaboration

Shouqin Zhao 1 collaboration

Timothy C Cox 1 collaboration

Andrew K Groves 1 collaboration

Qingguo Zhang 1 collaboration

Yong-Biao Zhang 1 collaboration

Jonathan Humbert 1 collaboration

Smrithi Salian 1 collaboration

Justine Rousseau 1 collaboration

Sophie Ehresmann 1 collaboration

Thomas Garcia 1 collaboration

Rami Alasiri 1 collaboration

Armand Bottani 1 collaboration

Sylviane Hanquinet 1 collaboration

Erin Beaver 1 collaboration

Jennifer Heeley 1 collaboration

Ann C M Smith 1 collaboration

Seth I Berger 1 collaboration

Xiang-Jiao Yang 1 collaboration

Jacques Côté 1 collaboration

Philippe M Campeau 1 collaboration

Christina Raftopoulou 1 collaboration

Fani-Marlen Roumelioti 1 collaboration

Eleni Dragona 1 collaboration

Stefanie Gimelli 1 collaboration

Frédérique Sloan-Béna 1 collaboration

Vasilis Gorgoulis 1 collaboration

Sarantis Gagos 1 collaboration

Werner Z'Graggen 1 collaboration

Mathias Lidgren 1 collaboration

Maurice Beghetti 1 collaboration

Michel Guipponi 1 collaboration

Michael Absoud 1 collaboration

Sushma Goyal 1 collaboration

Deb K Pal 1 collaboration

Christian M Korff 1 collaboration

Charles Lee 1 collaboration

Ada Hamosh 1 collaboration

John Burn 1 collaboration

Aleš Holoubek 1 collaboration

Melivoia Rapti 1 collaboration

Jesse Rademaker 1 collaboration

Jenny Meylan 1 collaboration

Callum Wilson 1 collaboration

Juliet Taylor 1 collaboration

Olivier Menzel 1 collaboration

Kateřina Kuželová 1 collaboration

Maria Lucia Cediel 1 collaboration

Michal Stawarski 1 collaboration

Lenka Nosková 1 collaboration

Martin Magner 1 collaboration

Konrad Platzer 1 collaboration

Janina Gburek-Augustat 1 collaboration

John N Constantino 1 collaboration

Bernhard Bettler 1 collaboration

Lina Worpenberg 1 collaboration

Cai-Tao Li 1 collaboration

Nazia Ibrahim 1 collaboration

Shagufta Naz 1 collaboration

Saima Sharif 1 collaboration

Saghar G Firouzabadi 1 collaboration

Shohreh Vosoogh 1 collaboration

Radoslava Saraeva-Lamri 1 collaboration

Laure Raymond 1 collaboration

Carlos Trujillo 1 collaboration

Nicolas Guex 1 collaboration

Ru-Juan Liu 1 collaboration

Jean-Yves Roignant 1 collaboration

Matthew R Taylor 1 collaboration

E Anne Martin 1 collaboration

Brooke Sinnen 1 collaboration

Rajdeep Trilokekar 1 collaboration

Megan E Williams 1 collaboration

Andreea Manole 1 collaboration

Stephanie Efthymiou 1 collaboration

Emer O'Connor 1 collaboration

Marisa I Mendes 1 collaboration

Matthew Jennings 1 collaboration

Reza Maroofian 1 collaboration

Indran Davagnanam 1 collaboration

Kshitij Mankad 1 collaboration

Maria Rodriguez Lopez 1 collaboration

Vincenzo Salpietro 1 collaboration

Ricardo Harripaul 1 collaboration

Lauren Badalato 1 collaboration

Jagdeep Walia 1 collaboration

Christopher S Francklyn 1 collaboration

Alkyoni Athanasiou-Fragkouli 1 collaboration

Roisin Sullivan 1 collaboration

Sonal Desai 1 collaboration

Kristin Baranano 1 collaboration

Faisal Zafar 1 collaboration

Nuzhat Rana 1 collaboration

Muhammed Ilyas 1 collaboration

Alejandro Horga 1 collaboration

Majdi Kara 1 collaboration

Alice Goldenberg 1 collaboration

Helen Griffin 1 collaboration

Amelie Piton 1 collaboration

Lindsay B Henderson 1 collaboration

Benyekhlef Kara 1 collaboration

Ayca Dilruba Aslanger 1 collaboration

Joost Raaphorst 1 collaboration

Rolph Pfundt 1 collaboration

Ruben Portier 1 collaboration

Marwan Shinawi 1 collaboration

Amelia Kirby 1 collaboration

Katherine M Christensen 1 collaboration

Lu Wang 1 collaboration

Rasim O Rosti 1 collaboration

Sohail A Paracha 1 collaboration

Muhammad T Sarwar 1 collaboration

Dagan Jenkins 1 collaboration

None None 1 collaboration

Jawad Ahmed 1 collaboration

Cheryl Cytrynbaum 1 collaboration

Rosanna Weksberg 1 collaboration

Ingrid M Wentzensen 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Yue Si 1 collaboration

Aida Telegrafi 1 collaboration

Marisa V Andrews 1 collaboration

Heinz Gabriel 1 collaboration

Julia Mohr 1 collaboration

Barbara Oehl-Jaschkowitz 1 collaboration

Sylvain Debard 1 collaboration

Bruno Senger 1 collaboration

Frédéric Fischer 1 collaboration

Conny van Ravenwaaij 1 collaboration

Annemarie J M Fock 1 collaboration

Servi J C Stevens 1 collaboration

Jürg Bähler 1 collaboration

Amina Nasar 1 collaboration

John F Mantovani 1 collaboration

Adnan Manzur 1 collaboration

Anna Sarkozy 1 collaboration

Desirée E C Smith 1 collaboration

Gajja S Salomons 1 collaboration

Zubair M Ahmed 1 collaboration

Shaikh Riazuddin 1 collaboration

Saima Riazuddin 1 collaboration

Muhammad A Usmani 1 collaboration

Annette Seibt 1 collaboration

John B Vincent 1 collaboration

Muhammad Ayub 1 collaboration

Mona Grimmel 1 collaboration

Anne Marie Jelsig 1 collaboration

Tina Duelund Hjortshøj 1 collaboration

Helena Gásdal Karstensen 1 collaboration

Marybeth Hummel 1 collaboration

Tobias B Haack 1 collaboration

Yalda Jamshidi 1 collaboration

Felix Distelmaier 1 collaboration

Rita Horvath 1 collaboration

Joseph G Gleeson 1 collaboration

Hubert Becker 1 collaboration

Jean-Louis Mandel 1 collaboration

David A Koolen 1 collaboration

Henry Houlden 1 collaboration

Stylianos E Antonarakis

Affiliations

Publications (16)

Down syndrome.

Chromatin three-dimensional interactions mediate genetic effects on gene expression.

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Carrier screening for recessive disorders.

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes.

SCN8A heterozygous variants are associated with anoxic-epileptic seizures.

History of the methodology of disease gene identification.

Three decades of the Human Genome Organization.

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.

Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.

Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Réseau de co-auteurs