Sarah M Nikkel

Anna Lehman 2 collaborations

Linlea Armstrong 2 collaborations

None None 2 collaborations

Kym M Boycott 2 collaborations

Sylvie Langlois 2 collaborations

Alison M Elliott 1 collaboration

Christèle du Souich 1 collaboration

Ilaria Guella 1 collaboration

Daniel M Evans 1 collaboration

Tara Candido 1 collaboration

Leah Tooman 1 collaboration

Lorne Clarke 1 collaboration

William Gibson 1 collaboration

Harinder Gill 1 collaboration

Pascal M Lavoie 1 collaboration

Suzanne Lewis 1 collaboration

Margaret L McKinnon 1 collaboration

Millan Patel 1 collaboration

Alfonso Solimano 1 collaboration

Anne Synnes 1 collaboration

Joseph Ting 1 collaboration

Margot van Allen 1 collaboration

Jan Christilaw 1 collaboration

Matthew J Farrer 1 collaboration

Jan M Friedman 1 collaboration

Horacio Osiovich 1 collaboration

Dominyka Batkovskyte 1 collaboration

Fiona McKenzie 1 collaboration

Fulya Taylan 1 collaboration

Pelin Ozlem Simsek-Kiper 1 collaboration

Hirofumi Ohashi 1 collaboration

Roger E Stevenson 1 collaboration

Thuong Ha 1 collaboration

Denise P Cavalcanti 1 collaboration

Hiroyuki Miyahara 1 collaboration

Steven A Skinner 1 collaboration

Miguel A Aguirre 1 collaboration

Zühal Akçören 1 collaboration

Gulen Eda Utine 1 collaboration

Tillie Chiu 1 collaboration

Kenji Shimizu 1 collaboration

Anna Hammarsjö 1 collaboration

Koray Boduroglu 1 collaboration

Hannah W Moore 1 collaboration

Raymond J Louie 1 collaboration

Peer Arts 1 collaboration

Allie N Merrihew 1 collaboration

Milena Babic 1 collaboration

Matilda R Jackson 1 collaboration

Nikos Papadogiannakis 1 collaboration

Anna Lindstrand 1 collaboration

Ann Nordgren 1 collaboration

Christopher P Barnett 1 collaboration

Hamish S Scott 1 collaboration

Andrei S Chagin 1 collaboration

Gen Nishimura 1 collaboration

Giedre Grigelioniene 1 collaboration

Vanessa Russell 1 collaboration

Michelle G K Ward 1 collaboration

Sumit Das 1 collaboration

Lindsay Brown 1 collaboration

Jessica Saunders 1 collaboration

Christopher Dunham 1 collaboration

Leanne de Kock 1 collaboration

Alexanne Cuillerier 1 collaboration

Meredith Gillespie 1 collaboration

Madeline Couse 1 collaboration

Taila Hartley 1 collaboration

Wendy Mears 1 collaboration

Francois P Bernier 1 collaboration

Albert E Chudley 1 collaboration

Patrick Frosk 1 collaboration

A Micheil Innes 1 collaboration

Julie Lauzon 1 collaboration

Maryann Thomas 1 collaboration

Andrea Guerin 1 collaboration

Christine M Armour 1 collaboration

Rosanna Weksberg 1 collaboration

James N Scott 1 collaboration

Debra Watkins 1 collaboration

Shirley Harvey 1 collaboration

Cheryl Cytrynbaum 1 collaboration

Kristin D Kernohan 1 collaboration

Elizabeth L Digby 1 collaboration

Jessica Liauw 1 collaboration

Janis Dionne 1 collaboration

Melissa Cornthwaite 1 collaboration

Kelly Turner 1 collaboration

Cornelius F Boerkoel 1 collaboration

Caitlin Chang 1 collaboration

Millan S Patel 1 collaboration

Margot Van Allen 1 collaboration

Didier Lacombe 1 collaboration

Agnès Bloch-Zupan 1 collaboration

Cecilie Bredrup 1 collaboration

Edward B Cooper 1 collaboration

Sofia Douzgou Houge 1 collaboration

Sixto García-Miñaúr 1 collaboration

Hülya Kayserili 1 collaboration

Lidia Larizza 1 collaboration

Vanesa Lopez Gonzalez 1 collaboration

Leonie A Menke 1 collaboration

Donatella Milani 1 collaboration

Francesco Saettini 1 collaboration

Cathy A Stevens 1 collaboration

Lloyd Tooke 1 collaboration

Jill A Van der Zee 1 collaboration

Maria M Van Genderen 1 collaboration

Julien Van-Gils 1 collaboration

Jane Waite 1 collaboration

Jean-Louis Adrien 1 collaboration

Oliver Bartsch 1 collaboration

Pierre Bitoun 1 collaboration

Antonia H M Bouts 1 collaboration

Anna M Cueto-González 1 collaboration

Elena Dominguez-Garrido 1 collaboration

Floor A Duijkers 1 collaboration

Patricia Fergelot 1 collaboration

Elisabeth Halstead 1 collaboration

Sylvia A Huisman 1 collaboration

Camilla Meossi 1 collaboration

Jo Mullins 1 collaboration

Chris Oliver 1 collaboration

Elisabetta Prada 1 collaboration

Alessandra Rei 1 collaboration

Ilka Riddle 1 collaboration

Cristina Rodriguez-Fonseca 1 collaboration

Rebecca Rodríguez Pena 1 collaboration

Janet Russell 1 collaboration

Alicia Saba 1 collaboration

Fernando Santos-Simarro 1 collaboration

Brittany N Simpson 1 collaboration

David F Smith 1 collaboration

Markus F Stevens 1 collaboration

Katalin Szakszon 1 collaboration

Emmanuelle Taupiac 1 collaboration

Nadia Totaro 1 collaboration

Irene Valenzuena Palafoll 1 collaboration

Daniëlle C M Van Der Kaay 1 collaboration

Michiel P Van Wijk 1 collaboration

Klea Vyshka 1 collaboration

Susan Wiley 1 collaboration

Raoul C Hennekam 1 collaboration

Ophélie Gourgas 1 collaboration

Gabrielle Lemire 1 collaboration

Alison L Eaton 1 collaboration

Sultanah Alshahrani 1 collaboration

Angela L Duker 1 collaboration

Jingjing Li 1 collaboration

Ricki S Carroll 1 collaboration

Stuart Mackenzie 1 collaboration

Michael B Bober 1 collaboration

Monzur Murshed 1 collaboration

Affiliations

Publications (9)

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Microarray results as an indicator of sexual abuse.

Dual white matter pathology in fetal holoprosencephaly featuring concurrent malformative and destructive features: A case series.

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys.

Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.

Réseau de co-auteurs