Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir et autres
2 citationsThe American Journal of Human Genetics
Margarita Sáenz
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
36Publications signalées
1175Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesRNA modifications and cancerGenetic Syndromes and Imprinting
Publications récentes
P106: Expanding the clinical and molecular spectrum of Pilarowski-Björnsson syndrome reveals sex-dependent effects*
Eirny Tholl Thorolfsdottir, Kimberley Jade Anderson, Malak Alghamdi, Naif A. M. Almontashiri et autres
0 citationsGenetics in Medicine Open
Evaluation of epilepsy in 8p-related disorders
Megan Abbott, Katie Angione, Megan Stringfellow, Kristina Malik et autres
0 citationsEpilepsy Research
Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes
Megan Abbott, Katie Angione, Megan Stringfellow, Kristina Malik et autres
2 citationsJournal of Child Neurology
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro et autres
5 citationsThe American Journal of Human Genetics
Chromosome 8p Syndromes Clinical Presentation and Management Guidelines
Kourtney Santucci, Kristina E. Malik, Katie Angione, Dana Bennink et autres
3 citationsClinical Genetics
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia
Joseph D. Symonds, Kristen Park, Cyril Mignot, Stewart Macleod et autres
12 citationsEpilepsia
Author response for "Chromosome 8p Syndromes Clinical Presentation and Management Guidelines"
Kourtney Santucci, Kristina E. Malik, Katie Angione, Dana Bennink et autres
0 citations
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing
Megan Abbott, Katie Angione, Emily K. Forbes, Mikayla Stoecker et autres
3 citationsAmerican Journal of Medical Genetics Part A
P569: NextGen training of medical professionals for evolving genomic interventions
Margarita Sáenz, Kaitlin M. Angione, Megan Abbott, Scott Demarest
0 citationsGenetics in Medicine Open
Congenital diaphragmatic hernia in siblings with PIGA ‐related congenital disorder of glycosylation
Molly M. Crenshaw, Lauren Thompson, Daniel G. Piqué, Kestutis Micke et autres
2 citationsAmerican Journal of Medical Genetics Part A
Five siblings expand the spectrum of GPC6‐related skeletal dysplasia
Molly M. Crenshaw, Mariana L. Meyers, Kathleen Brown, Valerie Slegesky et autres
0 citationsAmerican Journal of Medical Genetics Part A
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