Parul Jayakar

Prasanna Jayakar 6 collaborations

Daria Salyakina 5 collaborations

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John Ragheb 4 collaborations

None None 4 collaborations

Marwan Shinawi 4 collaborations

Anuj Jayakar 4 collaborations

Henry Houlden 3 collaborations

Stephanie Efthymiou 3 collaborations

Reza Maroofian 3 collaborations

Trevor Resnick 3 collaborations

Ann Hyslop 3 collaborations

Michael Duchowny 3 collaborations

Dong Li 3 collaborations

Jun Sasaki 3 collaborations

Kirsty McWalter 3 collaborations

Michael Zech 2 collaborations

David A Sweetser 2 collaborations

Juliane Winkelmann 2 collaborations

Mais Hashem 2 collaborations

Jennifer E Posey 2 collaborations

James R Lupski 2 collaborations

Fowzan S Alkuraya 2 collaborations

Sanjiv Bhatia 2 collaborations

Erin Torti 2 collaborations

Richard E Person 2 collaborations

Grazia M S Mancini 2 collaborations

Kirsten Cremer 2 collaborations

Hartmut Engels 2 collaborations

Renske Oegema 2 collaborations

Robert Stratton 2 collaborations

Benjamin Cogne 2 collaborations

Bertrand Isidor 2 collaborations

Pavel N Pichurin 2 collaborations

Meredith S Wright 2 collaborations

Anne Slavotinek 2 collaborations

Alan Taylor 2 collaborations

Annapurna Poduri 2 collaborations

Wendy K Chung 2 collaborations

Antonio Vitobello 2 collaborations

Laurence Faivre 2 collaborations

Gaetan Lesca 2 collaborations

Nara Sobreira 2 collaborations

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Jeanne Amiel 2 collaborations

Angelo Russo 2 collaborations

Valentina Gentile 2 collaborations

Daniela Chiarello 2 collaborations

Mario Lima 2 collaborations

Antonella Pini 2 collaborations

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Elisa Giorgio 2 collaborations

Michael Kruer 2 collaborations

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Ange-Line Bruel 2 collaborations

Isabelle Thiffault 2 collaborations

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Catherine A Brownstein 2 collaborations

Zehua Zhu 2 collaborations

Michelin Janvier 2 collaborations

Diana Soler 2 collaborations

Magaly Diaz-Barbosa 2 collaborations

Divya Nair 2 collaborations

Hannah Erdogan 2 collaborations

Andrew Yoon 2 collaborations

Margaret H Harr 2 collaborations

Gaber Bergant 2 collaborations

Borut Peterlin 2 collaborations

Maruša Škrjanec Pušenjak 2 collaborations

Rolph Pfundt 2 collaborations

Sandra Jansen 2 collaborations

Alpa Sidhu 2 collaborations

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Emanuele Agolini 2 collaborations

Arthur Jacob 2 collaborations

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Rafii Arash 2 collaborations

Kimia Kahrizi 2 collaborations

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Elizabeth J Bhoj 2 collaborations

Sara S Cathey 2 collaborations

Matthew A Lines 2 collaborations

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Affiliations

Publications (29)

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Functional hemispherectomy: can preoperative imaging predict outcome?

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype.

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in

Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.

Establishing criteria for pediatric epilepsy surgery center levels of care: Report from the ILAE Pediatric Epilepsy Surgery Task Force.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Early Implantation as a Main Predictor of Response to Vagus Nerve Stimulation in Childhood-Onset Refractory Epilepsy.

Initial experience with magnetic resonance-guided focused ultrasound stereotactic surgery for central brain lesions in young adults.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

Chromosomal microarray detects genetic risks of neurodevelopmental disorders in newborns with congenital heart disease.

Early vagus nerve stimulator implantation as a main predictor of positive outcome in pediatric patients with epileptic encephalopathy.

Novel Loss of Function in the

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.

Graph neural networks in EEG spike detection.

Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in

Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.

De novo substitutions of TRPM3 cause intellectual disability and epilepsy.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.

A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Discovery of a neuromuscular syndrome caused by biallelic variants in

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.

Réseau de co-auteurs