AlejandroDanielIglesiasMD

PubMed

• Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
  Martino, J., Liu, Q., Vukojevic, K., Ke, J., Lim, T., Khan, A., Gupta, Y., Perez, A., Yan, Z., Milo Rasouly, H., Vena, N., Lippa, N., Giordano, J., Saraga, M., Saraga-...> ;Genetics in Medicine. 2023 Dec 1
• 3 citations
  Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
  Mythily Ganapathi, Leticia S Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito-Sanz, Susan M White, Katherine Lachlan, Priyanka Ahimaz, Anshuman Sewda, Lisa ...> ;European Journal of Human Genetics. 2023 Oct 1
• 3 citations
  Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
  Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, Haowei Du, Tadahiro M...> ;American Journal of Human Genetics. 2023 Aug 3
• 2 citations
  Two cases of-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.
  Sophie R Wilkins, Amy W Yu, Kurenai Tanji, Alejandro D Iglesias, Michio Hirano, Ilya Kister, Claire S Riley, Nicolas J Abreu, Connolly Steigerwald> ;Multiple Sclerosis. 2023 Jun 1
• 1 citations
  Combined heart and liver transplantation in a patient supported by left ventricular assist device (LVAD) with propionic acidemia.
  Dor Lotan, Ersilia M DeFilippis, Daniel Oren, Alice Vinogradsky, Gal Rubinstein, Abhishek Mathur, Koji Takeda, May Hua, Paul J Gaglio, Matthias J Szabolcs, Gabriel Say...> ;Nutrition, Metabolism, and Cardiovascular Diseases. 2023 Mar 1
• 7 citations
  Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
  Michelle C do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, Fang Liu, Talia Oranburg, Ana S A Cohen, Keith A Coffman, Maya R Brown, Kirill Kiselyov, Quinten Waisfisz,...> ;Brain. 2022 Dec 19
• A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
  Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Ma...> ;Journal of Inherited Metabolic Disease. 2022 Sep 1
• 7 citations
  The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
  Smitha Kumble, Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane-Yeboa, Paul J. Benke, Sara M. Berger, Lise Bjerglund, Belinda Campos-Xavier, Michae...> ;Human Mutation. 2021 Dec 2
• 18 citations
  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
• 17 citations
  Impact of patient education videos on genetic counseling outcomes after exome sequencing.
  , , , , , , , , , , , , , , , , , , , , , , , > ;Patient Education and Counseling. 2020 Jan 1
• 26 citations
  De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Plos Genetics. 2018 Nov 30
• 45 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
• 38 citations
  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
• 7 citations
  Erratum: Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
  Carol Anne Martin, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David A. Parry, Anna H. Bizard, Andrea Leitch, Louise Cleal, N.S. Ali, Al-Owain, William P. Allen,...> ;American Journal of Human Genetics. 2018 Sep 6
• 22 citations
  Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
  Carol-Anne Martin, Kata Sarlós, Clare V Logan, Roshan Singh Thakur, David A Parry, Anna H Bizard, Andrea Leitch, Louise Cleal, Nadia Shaukat Ali, Mohammed A Al-Owain, ...> ;American Journal of Human Genetics. 2018 Aug 2
• 41 citations
  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
• 5 citations
  A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.
  Veronica Rotemberg, Maria C. Garzon, Christine T. Lauren, Alejandro D. Iglesias, Sandhya Brachio, Vimla Aggarwal, Nicholas Stong, David Goldstein, Thomas G. Diacovo> ;The Journal of Pediatrics. 2017 Dec 1
• 15 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 Pappas, Slavé Petrovski, Ashley...> ;American Journal of Medical Genetics. Part A. 2017 Sep 22
• 32 citations
  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
• 21 citations
  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
• 8 citations
  Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.
  Chana L. Glasser, Joseph A. Picoraro, Sivan Kinberg, Evelyn Rustia, Kara Gross Margolis, Kwame Anyane-Yeboa, Alejandro Iglesias, > ;Journal of Pediatric Hematology/oncology. 2016 Oct 1
• 71 citations
  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
• 17 citations
  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
• 69 citations
  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 Mar 1
• 164 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
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Journal Articles

• Refining the Phenotype Associated with GNB1 Mutations: Clinical Data on 18 Newly Identified Patients and Review of the Literature  
  Vinodh Narayanan, Nancy J Mendelsohn, Ana Bircher, Tristan T Sands, Alejandro Iglesias, American Journal of Medical Genetics Part A