MariesJosephMD

PubMed

• 5 citations
  O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
  Clara Velmans, Anne H. O’Donnell-Luria, Emanuela Argilli, Frédéric Tran Mau-Them, Antonio Vitobello, Marcus Cy Chan, Jasmine L.F. Fung, Megan E. Rech, Angela Abicht, M...> ;Journal of Medical Genetics. 2021 Jul 28
• 9 citations
  Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.
  Indira Chandrasekar, Anne Tourney, Kamela Loo, Jason Carmichael, Kiely N. James, Katarzyna A. Ellsworth, David Dimmock, Maries Joseph> ;American Journal of Medical Genetics. Part A. 2021 Mar 22
• 119 citations
  Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
  David Dimmock, Sara A. Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Jason Carmichael, Jeanne Carroll, Elaine Cham, Shimul Chowdhury, John P. Cleary, Arthu...> ;American Journal of Human Genetics. 2021 Jul 1
• 17 citations
  Widening of the Genetic and Clinical Spectrum of Lamb-Shaffer Syndrome, a Neurodevelopmental Disorder Due to SOX5 Haploinsufficiency
  Ash Zawerton, Cyril Mignot, Ashley N. Sigafoos, Patrick R. Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabe...> ;Genetics in Medicine. 2020 Mar 1
• 14 citations
  Elevation of plasma transforming growth factor β1 levels in stable nonatopic asthma
  Jose Joseph, Sheela Benedict, Padmanabhan Badrinath, Safa Wassef, Maries Joseph, Samar Abdul-Khalik, M. Gary Nicholls> ;Annals of Allergy, Asthma & Immunology. 2003 Nov 1
• 9 citations
  Paternal asthma is a predictor for childhood asthma in the consanguineous families from the United Arab Emirates.
  Maries Joseph, Taoufik Zoubeidi, Sherina M. Al-Dhaheri, Aysha Ahmed Al-Dhaheri, Afra A. Al-Dhaheri, Fatima Al-Kaabi, Shamma Al-Muhairi, Jose Joseph> ;The Journal of Asthma. 2009 Jul 2
• 22 citations
  Serum interleukin-5 levels are elevated in mild and moderate persistent asthma irrespective of regular inhaled glucocorticoid therapy
  Jose Joseph, Sheela Benedict, Wassef F. Safa, Maries Joseph> ;BMC Pulmonary Medicine. 2004 Mar 17
• 19 citations
  X‐linked myotubular myopathy: Clinical observations in ten additional cases
  Maries Joseph, G. Shashidhar Pai, Kenton R. Holden, Gail E. Herman> ;American Journal of Medical Genetics. 1995 Nov 6
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