Rebecca O Littlejohn

None None 3 collaborations

Bert Callewaert 2 collaborations

Melissa Lees 2 collaborations

Elizabeth R Roeder 2 collaborations

Pengfei Liu 2 collaborations

Elizabeth Roeder 2 collaborations

Jennifer E Posey 2 collaborations

James R Lupski 2 collaborations

Yuri A Zarate 1 collaboration

Katherine A Bosanko 1 collaboration

Aisling R Caffrey 1 collaboration

Jonathan A Bernstein 1 collaboration

Donna M Martin 1 collaboration

Marc S Williams 1 collaboration

Elizabeth M Berry-Kravis 1 collaboration

Paul R Mark 1 collaboration

Melanie A Manning 1 collaboration

Vikas Bhambhani 1 collaboration

Marcelo Vargas 1 collaboration

Andrea H Seeley 1 collaboration

Juvianee I Estrada-Veras 1 collaboration

Marieke F van Dooren 1 collaboration

Maria Schwab 1 collaboration

Adeline Vanderver 1 collaboration

Daniela Melis 1 collaboration

Adnan Alsadah 1 collaboration

Laurie Sadler 1 collaboration

Hilde Van Esch 1 collaboration

Ann Oostra 1 collaboration

Jane Maclean 1 collaboration

Maria Lisa Dentici 1 collaboration

Valeria Orlando 1 collaboration

Mark Lipson 1 collaboration

Steven P Sparagana 1 collaboration

Timothy J Maarup 1 collaboration

Suzanne Im Alsters 1 collaboration

Ariel Brautbar 1 collaboration

Eliana Kovitch 1 collaboration

Sakkubai Naidu 1 collaboration

Douglas M Smith 1 collaboration

Lesley Turner 1 collaboration

Víctor Raggio 1 collaboration

Lucía Spangenberg 1 collaboration

Sixto Garcia-Miñaúr 1 collaboration

Dorothy Grange 1 collaboration

Jean Pfotenhauer 1 collaboration

Marilyn C Jones 1 collaboration

Meena Balasubramanian 1 collaboration

Antonio Martinez-Monseny 1 collaboration

Lot Snijders Blok 1 collaboration

Ralitza Gavrilova 1 collaboration

Jennifer L Fish 1 collaboration

Nurit Assia Batzir 1 collaboration

Pranjali Kishor Bhagwat 1 collaboration

Austin Larson 1 collaboration

Zeynep Coban Akdemir 1 collaboration

Maciej Bagłaj 1 collaboration

Leon Bofferding 1 collaboration

Katherine B Bosanko 1 collaboration

Skander Bouassida 1 collaboration

Ashley Cannon 1 collaboration

Yazmin Enchautegui Colon 1 collaboration

Adolfo D Garnica 1 collaboration

Margaret H Harr 1 collaboration

Sandra Heck 1 collaboration

Anna C E Hurst 1 collaboration

Shalini N Jhangiani 1 collaboration

Bertrand Isidor 1 collaboration

Pilar Magoulas 1 collaboration

Helen Mar Fan 1 collaboration

Ronit Marom 1 collaboration

Scott McLean 1 collaboration

Marjan M Nezarati 1 collaboration

Kimberly M Nugent 1 collaboration

Michael B Petersen 1 collaboration

Maria L Rocha 1 collaboration

Robert Smigiel 1 collaboration

Ian Tully 1 collaboration

James Weisfeld-Adams 1 collaboration

Katerina O Wells 1 collaboration

Arthur L Beaudet 1 collaboration

Michael F Wangler 1 collaboration

Francesco Vetrini 1 collaboration

Shane McKee 1 collaboration

Jill A Rosenfeld 1 collaboration

Mohnish Suri 1 collaboration

Andrea M Lewis 1 collaboration

Kimberly Margaret Nugent 1 collaboration

Sue Holder 1 collaboration

Wenmiao Zhu 1 collaboration

Joseph T Alaimo 1 collaboration

Brett Graham 1 collaboration

Jill M Harris 1 collaboration

James B Gibson 1 collaboration

Matthew Pastore 1 collaboration

Kim L McBride 1 collaboration

Makanko Komara 1 collaboration

Lihadh Al-Gazali 1 collaboration

Aisha Al Shamsi 1 collaboration

Elizabeth A Fanning 1 collaboration

Klaas J Wierenga 1 collaboration

Daryl A Scott 1 collaboration

Ziva Ben-Neriah 1 collaboration

Vardiella Meiner 1 collaboration

Hanoch Cassuto 1 collaboration

Orly Elpeleg 1 collaboration

J Lloyd Holder 1 collaboration

Lindsay C Burrage 1 collaboration

Laurie H Seaver 1 collaboration

Lionel Van Maldergem 1 collaboration

Sonal Mahida 1 collaboration

Janet S Soul 1 collaboration

Margaret Marlatt 1 collaboration

Ludmila Matyakhina 1 collaboration

Julie Vogt 1 collaboration

June-Anne Gold 1 collaboration

Soo-Mi Park 1 collaboration

Vinod Varghese 1 collaboration

Anne K Lampe 1 collaboration

Ajith Kumar 1 collaboration

Muriel Holder-Espinasse 1 collaboration

Vivienne McConnell 1 collaboration

Birgitta Bernhard 1 collaboration

Ed Blair 1 collaboration

Victoria Harrison 1 collaboration

Donna M Muzny 1 collaboration

Richard A Gibbs 1 collaboration

Sarah H Elsea 1 collaboration

Weimin Bi 1 collaboration

Seema Lalani 1 collaboration

Fan Xia 1 collaboration

Yaping Yang 1 collaboration

Christine M Eng 1 collaboration

Egidio Spinelli 1 collaboration

Kyle R Christensen 1 collaboration

Emily Bryant 1 collaboration

Amy Schneider 1 collaboration

Jennifer Rakotomamonjy 1 collaboration

Alison M Muir 1 collaboration

Jessica Giannelli 1 collaboration

Berkley Schmidt 1 collaboration

William G Wilson 1 collaboration

Elysa J Marco 1 collaboration

Kazuhiro Iwama 1 collaboration

Satoko Kumada 1 collaboration

Tiziana Pisano 1 collaboration

Carmen Barba 1 collaboration

Annalisa Vetro 1 collaboration

Eva H Brilstra 1 collaboration

Richard H van Jaarsveld 1 collaboration

Naomichi Matsumoto 1 collaboration

Hadassa Goldberg-Stern 1 collaboration

Patrick W Carney 1 collaboration

P Ian Andrews 1 collaboration

Christelle M El Achkar 1 collaboration

Sam Berkovic 1 collaboration

Lance H Rodan 1 collaboration

Kirsty McWalter 1 collaboration

Renzo Guerrini 1 collaboration

Ingrid E Scheffer 1 collaboration

Heather C Mefford 1 collaboration

Simone Mandelstam 1 collaboration

Linda Laux 1 collaboration

John J Millichap 1 collaboration

Alicia Guemez-Gamboa 1 collaboration

Angus C Nairn 1 collaboration

Gemma L Carvill 1 collaboration

Affiliations

Publications (4)

Mutation update for the SATB2 gene.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.

Réseau de co-auteurs