Publications en collaboration avec des chercheurs de Children's Hospital of Philadelphia (9)

2021

  1. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

    American Journal of Human Genetics, Vol. 108, Núm. 6, pp. 1138-1150

2020

  1. Effect of platelet storage duration on clinical outcomes and incremental platelet change in critically ill children

    Transfusion, Vol. 60, Núm. 12, pp. 2849-2858

  2. Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

    Pediatric Neurology, Vol. 112, pp. 94-100

  3. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

    Genetics in Medicine, Vol. 22, Núm. 8, pp. 1338-1347

  4. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Biological Psychiatry, Vol. 87, Núm. 2, pp. 100-112

  5. The variability of SMARCA4-related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

    American Journal of Medical Genetics, Part A, Vol. 182, Núm. 9, pp. 2058-2067

2019

  1. International Study of the Epidemiology of Platelet Transfusions in Critically Ill Children with an Underlying Oncologic Diagnosis

    Pediatric Critical Care Medicine, Vol. 20, Núm. 7, pp. e342-e351

2016

  1. The worldwide antibiotic resistance and prescribing in european children (ARPEC) point prevalence survey: Developing hospital-quality indicators of antibiotic prescribing for children

    Journal of Antimicrobial Chemotherapy, Vol. 71, Núm. 4, pp. 1106-1117

2015

  1. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 12, pp. 1615-1626