AyeshaAhmadMD

PubMed

• 21 citations
  Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
  Terry G J Derks, David Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger...> ;Nutrients. 2021 Oct 27
• 3 citations
  Quantification of pial collateral pressure in acute large vessel occlusion stroke: basic concept with patient outcomes.
  Rizwan A. Tahir, Muhammad Affan, Horia Marin, Sameah Haider, Owais Alsrouji, Ayesha Ahmad, Alex Bou Chebl, Angelos Katramados, Meredith Van Harn, Max Kole> ;Neuroradiology. 2021 Jan 28
• 9 citations
  Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
  John S Richardson, Alex R. Kemper, Scott D. Grosse, Wendy Lam, Angela M Rose, Ayesha Ahmad, Achamyeleh Gebremariam, Lisa A. Prosser> ;Genetics in Medicine. 2021 Mar 31
• 11 citations
  Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI.
  Elizabeth G. Ames, Rachel Fisher, Mary Kleyn, Ayesha Ahmad> ;International Journal of Neonatal Screening. 2020 Sep 2
• 3 citations
  A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosi...
  Elizabeth G. Ames, Anthony J Scott, Kara B. Pappas, Shawn M. Moloney, Robert L. Conway, Ayesha Ahmad> ;American Journal of Medical Genetics. Part A. 2020 Aug 20
• 28 citations
  De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
  Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld M. Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, Daniel L. Po...> ;American Journal of Human Genetics. 2020 Jul 2
• 6 citations
  Heart Transplantation for TANGO2-Related Metabolic Encephalopathy and Arrhythmia Syndrome-Associated Cardiomyopathy.
  Joshua K. Meisner, Elizabeth G. Ames, Ayesha Ahmad, Ming-Sing Si, Kurt R. Schumacher, Heang M Lim, Raja Rabah, David M. Peng> ;Circulation. Genomic and Precision Medicine. 2020 Jun 11
• 7 citations
  A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism.
  Elizabeth G. Ames, Kera E. Luckritz, Ayesha Ahmad> ;Pediatric Nephrology. 2020 Mar 30
• 22 citations
  Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
  Mark N. Ziats, Ayesha Ahmad, John A. Bernat, Rachel Fisher, Megan Glassford, Mark C. Hannibal, Joseph E. Jacher, Natasha E. Weiser, Catherine E. Keegan, Kristen N. Lee...> ;Pediatric Research. 2020 Mar 1
• 13 citations
  Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
  Dawn S Peck, Jean M Lacey, Amy L White, Gisele Pino, April L Studinski, Rachel Fisher, Ayesha Ahmad, Linda Spencer, Sarah Viall, Natalie Shallow, Amy Siemon, J Austin ...> ;International Journal of Neonatal Screening. 2020 Mar 1
• 1 citations
  Infantile onset Pompe disease presenting with non-immune hydrops fetalis.
  Kristen N. Lee, Rachel Fisher, Shane C. Quinonez, Ayesha Ahmad> ;Molecular Genetics and Metabolism Reports. 2019 Aug 21
• 14 citations
  Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model.
  Tomoko Uehara, Hidenori Suzuki, Nobuhiko Okamoto, Tatsuro Kondoh, Ayesha Ahmad, Bridget C. O’Connor, Sawako Yoshina, Shohei Mitani, Kenjiro Kosaki, Toshiki Takenouchi> ;Scientific Reports. 2019 Mar 14
• 10 citations
  Health utilities and parental quality of life effects for three rare conditions tested in newborns
  Norma-Jean Simon, John S Richardson, Ayesha Ahmad, Angela M Rose, Eve Wittenberg, Brittany D’Cruz, Lisa A. Prosser> ;Journal of Patient-Reported Outcomes. 2019 Jan 22
• 5 citations
  Moyamoya vasculopathy with anti-SCL-70 antibodies: A case report and review of the literature
  Ayesha Ahmad, Rizwan A. Tahir, Panayiotis Mitsias> ;Journal of Clinical Neuroscience. 2018 Jul 13
• 5 citations
  Pimavanserin use in a movement disorders clinic: a single-center experience.
  Abhimanyu Mahajan, Bisena Bulica, Ayesha Ahmad, Patricia Kaminski, Peter A LeWitt, Danette Taylor, Shana Krstevska, Neepa Patel> ;Neurological Sciences. 2018 Jul 21
• 8 citations
  Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency.
  Vanessa Cardenas, Frank DiPaola, Stacie D. Adams, Alexander M. Holtz, Ayesha Ahmad> ;The Journal of Pediatrics. 2017 Jul 1
• 21 citations
  De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
  Rachel Webster, Megan T. Cho, Kyle Retterer, Francisca Millan, Catherine Nowak, Jessica Douglas, Ayesha Ahmad, Gerald V. Raymond, Maria R. Johnson, Aurora Pujol, Amber...> ;Clinical Genetics. 2017 May 1
• 5 citations
  Clinical characterization of novel chromosome 22q13 microdeletions.
  Jennifer F. Ha, Ayesha Ahmad, Marci M. Lesperance> ;International Journal of Pediatric Otorhinolaryngology. 2017 Apr 1
• 5 citations
  Interstitial lung disease of infancy caused by a new NKX2-1 mutation.
  Khalid H. Safi, John A. Bernat, Catherine E. Keegan, Ayesha Ahmad, Marc B. Hershenson, Manuel Arteta> ;Clinical Case Reports. 2017 Apr 4
• 12 citations
  Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Dif...
  Nicholas M. McCrory, Mathew J. Edick, Ayesha Ahmad, Susan Lipinski, Jessica Scott Schwoerer, Shaohui Zhai, Kaitlin Justice, Cynthia A. Cameron, Susan A. Berry, Loren D...> ;The Journal of Pediatrics. 2017 Jan 1
• 12 citations
  221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
  Kristi Bentler, Shaohui Zhai, Sara A. Elsbecker, Georgianne L. Arnold, Barbara K. Burton, Jerry Vockley, Cynthia A. Cameron, Sally J. Hiner, Mathew J. Edick, Susan A. ...> ;Molecular Genetics and Metabolism. 2016 Sep 1
• 39 citations
  Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
  Kendra Bjoraker, Michael A. Swanson, Curtis R. Coughlin, John Christodoulou, Ee S. Tan, Mark Fergeson, Sarah Dyack, Ayesha Ahmad, Marisa W. Friederich, Elaine B. Spect...> ;The Journal of Pediatrics. 2016 Mar 1
• 5 citations
  Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
  Shane C. Quinonez, Andrea H. Seeley, Mary Seeterlin, Eleanor Stanley, Ayesha Ahmad> ;Molecular Genetics and Metabolism Reports. 2014 Jan 1
• 1 citations
  Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant.
  Yoona Rhee, Todd E. Heaton, Catherine E. Keegan, Ayesha Ahmad> ;Clinics and Practice. 2013 Jan 25
• 29 citations
  Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2–q34.3
  Wenbo Xu, Ayesha Ahmad, Susan L. Dagenais, Ramaswamy K. Iyer, Jeffrey W. Innis> ;American Journal of Medical Genetics. Part A. 2012 Mar 1
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