AlejandroDanielIglesiasMD

PubMed

• Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
  Mythily Ganapathi, Loukas Argyriou, Francisco Martínez-Azorín, Susanne Morlot, Gökhan Yigit, Teresa M Lee, Bernd Auber, Alexander von Gise, Donald Petrey, Holger Thiel...> ;Human Genetics. 2020 Jun 8
• 3 citations
  Impact of patient education videos on genetic counseling outcomes after exome sequencing.
  Rebecca Hernan, Megan T. Cho, Ashley Wilson, Priyanka Ahimaz, Catherine Au, Sara M. Berger, Edwin Guzman, Michelle Primiano, Jessica E. Shaw, Meredith Ross, Leyla Taba...> ;Patient Education and Counseling. 2020 Jan 1
• 9 citations
  Refining the phenotype associated with GNB1 mutations : Clinical data on 18 newly identified patients and review of the literature
  Parisa Hemati, Anya Revah-Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally A...> ;American Journal of Medical Genetics Part A. 2018 Nov 1
• Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
  Thi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen Wigby, Nissan V. Baratang, Justine Rousseau, Anik St-Denis, Jill A. Rosenfeld, Stephanie C. Laniewski, Julie M. Jones, ...> ;American Journal of Human Genetics. 2018 Oct 4
• Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.
  Julia Wynn, Ruth Ottman, Jimmy Duong, Ashley Wilson, Priyanka Ahimaz, Josue Natanael Martinez, R. Rabin, E. Rosen, Rachel Webster, Megan T. Cho, C. Egan, Edwin Guzman,...> ;Clinical Genetics. 2018 May 1
• A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.
  Veronica Rotemberg, Maria C. Garzon, Christine T. Lauren, Alejandro D. Iglesias, Sandhya S. Brachio, Vimla S. Aggarwal, Nicholas Stong, David Goldstein, Thomas G. Diacovo> ;The Journal of Pediatrics. 2017 Dec 1
• Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
  Thaís Armangue, Joseph J. Orsini, Asako Takanohashi, Francesco Gavazzi, Alex Conant, Nicole Ulrick, Mark A. Morrissey, Norah Nahhas, Guy Helman, Heather Gordish-Dressm...> ;Molecular Genetics and Metabolism. 2017 Nov 1
• 3 citations
  Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series
  Anya Revah-Politi, Mythily Ganapathi, Louise Bier, Megan T. Cho, David Goldstein, Parisa Hemati, Alejandro Iglesias, Jane Juusola, John G. Pappas, Slavé Petrovski, Ash...> ;American Journal of Medical Genetics Part A. 2017 Sep 22
• Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO
  Daryl A. Scott, Andres Hernandez-Garcia, Mahshid S. Azamian, Valerie K. Jordan, Bum Jun Kim, Molly Starkovich, Jinglan Zhang, Lee-Jun C. Wong, Sandra Darilek, Amy M. B...> ;Journal of Medical Genetics. 2017 Jan 1
• Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State
  Melissa P. Wasserstein, Mary R. Andriola, Georgianne L. Arnold, Alan M. Aron, Patricia K. Duffner, Richard W. Erbe, Maria L. Escolar, Lissette Estrella, Patricia Galvi...> ;Genetics in Medicine. 2016 May 12
• TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.
  Natalia A. Shylo, Kasey J. Christopher, Alejandro Iglesias, Aaron Daluiski, Scott D. Weatherbee> ;Human Mutation. 2016 Feb 1
• Newborn screening for Krabbe disease in New York State: the first eight years' experience.
  Joseph J. Orsini, Denise M. Kay, Carlos A. Saavedra-Matiz, David A. Wenger, Patricia K. Duffner, Richard W. Erbe, Chad K. Biski, Monica Martin, Lea M. Krein, Matthew N...> ;Genetics in Medicine. 2016 Jan 21
• 87 citations
  the usefulness of whole-exome sequencing in routine clinical practice
  Alejandro Iglesias, Kwame Anyane-Yeboa, Julia Wynn, Ashley Wilson, Megan T. Cho, Edwin Guzman, Rebecca Sisson, Claire Egan, Wendy K. Chung> ;Genetics in Medicine. 2014 Jun 5
• New York State cystic fibrosis consortium: the first 2.5 years of experience with cystic fibrosis newborn screening in an ethnically diverse population.
  Robert Giusti, Ashley Badgwell, Alejandro D. Iglesias> ;Pediatrics. 2007 Feb 1
• Siderosis superficial del sistema nervioso central: descripciÓn de dos nuevos casos
  M Castro-Del Rio, M. Seijo-Martinez, Alejandro D. Iglesias, F Vázquez, I Arán, E M Cebrián-Pérez> ;Revista De Neurologia. 2004 Jul 1
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