Aya Abu-El-Haija

Affiliations

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Department of Medical Oncology, Dana Farber Cancer Institute, Boston, MA, USA.

Réseau de co-auteurs

Bryce A Mendelsohn 2 collaborations

Caroline McGowan 1 collaboration

Deborah Vanderveen 1 collaboration

Olaf Bodamer 1 collaboration

Abdulrahman A Aldeeri 1 collaboration

Remzi Karayol 1 collaboration

Maria Carla Borroto 1 collaboration

Sadegheh Haghshenas 1 collaboration

Anoja Namasivayam 1 collaboration

Jack Reilly 1 collaboration

Michael A Levy 1 collaboration

Raissa Relator 1 collaboration

Jennifer Kerkhof 1 collaboration

Haley McConkey 1 collaboration

Maria Shvedunova 1 collaboration

Andrea K Petersen 1 collaboration

Kari Magnussen 1 collaboration

Christiane Zweier 1 collaboration

Georgia Vasileiou 1 collaboration

André Reis 1 collaboration

Juliann M Savatt 1 collaboration

Meghan R Mulligan 1 collaboration

Louise S Bicknell 1 collaboration

Gemma Poke 1 collaboration

Jessica Duis 1 collaboration

Vickie Hannig 1 collaboration

Siddharth Srivastava 1 collaboration

Elizabeth Barkoudah 1 collaboration

Natalie S Hauser 1 collaboration

Myrthe van den Born 1 collaboration

Uri Hamiel 1 collaboration

Noa Henig 1 collaboration

Hagit Baris Feldman 1 collaboration

Shane McKee 1 collaboration

Ingrid P C Krapels 1 collaboration

Yunping Lei 1 collaboration

Albena Todorova 1 collaboration

Ralitsa Yordanova 1 collaboration

Slavena Atemin 1 collaboration

Mihael Rogac 1 collaboration

Vivienne McConnell 1 collaboration

Anna Chassevent 1 collaboration

Kristin W Barañano 1 collaboration

Vandana Shashi 1 collaboration

Jennifer A Sullivan 1 collaboration

Angela Peron 1 collaboration

Maria Iascone 1 collaboration

Maria P Canevini 1 collaboration

Jennifer Friedman 1 collaboration

Iris A Reyes 1 collaboration

Janell Kierstein 1 collaboration

Joseph J Shen 1 collaboration

Faria N Ahmed 1 collaboration

Xiao Mao 1 collaboration

Berta Almoguera 1 collaboration

Fiona Blanco-Kelly 1 collaboration

Konrad Platzer 1 collaboration

Ariana-Berenike Treu 1 collaboration

Juliette Quilichini 1 collaboration

Alexia Bourgois 1 collaboration

Nicolas Chatron 1 collaboration

Louis Januel 1 collaboration

Christelle Rougeot 1 collaboration

Deanna Alexis Carere 1 collaboration

Kristin G Monaghan 1 collaboration

Justine Rousseau 1 collaboration

Kenneth A Myers 1 collaboration

Bekim Sadikovic 1 collaboration

Asifa Akhtar 1 collaboration

Philippe M Campeau 1 collaboration

Jacque L Duncan 1 collaboration

Anthony T Moore 1 collaboration

Orit A Glenn 1 collaboration

Kara Weisiger 1 collaboration

Renata C Gallagher 1 collaboration

Daniah T Beleford 1 collaboration

Norah S Alsaleh 1 collaboration

Zuhair Rahbeeni 1 collaboration

Pierre-Marie Martin 1 collaboration

Shannon Rego 1 collaboration

Alyssa Huang 1 collaboration

Gina Capodanno 1 collaboration

Joseph T Shieh 1 collaboration

Jessica Van Ziffle 1 collaboration

Neil Risch 1 collaboration

Fowzan S Alkuraya 1 collaboration

Anne M Slavotinek 1 collaboration

Jacklyn Omorodion 1 collaboration

Leah Dowsett 1 collaboration

Robin D Clark 1 collaboration

Jamie Fraser 1 collaboration

Alanna Strong 1 collaboration

Monica H Wojcik 1 collaboration

Allison S Bryant 1 collaboration

Nina B Gold 1 collaboration

Aya Abu-El-Haija

Affiliations

Publications (6)

Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.

A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder.

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Cobalamin D Deficiency Identified Through Newborn Screening.

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.

Delayed diagnosis and racial bias in children with genetic conditions.

Réseau de co-auteurs