YuriAZarateMD

PubMed

• NR3C2 microdeletions-an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review.
  Bobby L Boyanton Jr, Thomas Kelly, Yuri A Zarate, Brannon G Broadfoot, Brendan D Crawford> ;Laboratory Medicine. 2024 Mar 16
• Listening to patients with suspected genetic diagnoses: A narrative perspective.
  Shelley, E., Robert B Slocum, Anna C E Hurst, Ellis Shelley, Lisa Berry, Robert J Hopkin, Alyssa L Rippert, Elizabeth Bhoj, John M Graham Jr, Katheryn Grand, Aixa Gonz...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2023 Dec 4
• 1 citations
  Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escal...
  Ravi Savarirayan, Daniel G Hoernschemeyer, Merete Ljungberg, Yuri A Zarate, Carlos A Bacino, Michael B Bober, Janet M Legare, Wolfgang Högler, Teresa Quattrin, M Jenni...> ;Eclinicalmedicine. 2023 Nov 1
• Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance.
  Yuri A Zarate, Katherine Bosanko, Aline Andres, Jennifer L Fish> ;American Journal of Medical Genetics. Part A. 2024 Feb 1
• 6 citations
  Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
  Burak Tepe, Erica L Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz-Rogers, Yuri A Zarate, G Bradley Schaefer, Jorge Luis Granadillo De Luque,...> ;American Journal of Human Genetics. 2023 May 4
• 1 citations
  Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
  Irena J J Muffels, Imre F Schene, Holger Rehmann, Maarten P G Massink, Maria M van der Wal, Corinna Bauder, Martha Labeur, Natalia G Armando, Maarten H Lequin, Michiel...> ;American Journal of Human Genetics. 2023 Jan 5
• 7 citations
  Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
  Lama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, Raashda A Sulaiman, Jill A Rosenfeld, Seema Lalani, David R Murdock, Lindsay C Burrage, , Ping Yee Billie Au, Shel...> ;Brain. 2023 Apr 19
• 10 citations
  coding variants in thegene cause a neurodevelopmental disorder with intellectual disability.
  Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé ...> ;Journal of Medical Genetics. 2022 Oct 1
• 2 citations
  Growth in individuals with SATB2-associated syndrome.
  Yuri A Zarate, Amrit Kannan, Katherine A Bosanko, Aisling R Caffrey> ;American Journal of Medical Genetics. Part A. 2022 Oct 1
• 1 citations
  Prevalence and Outcomes of Primary Left Ventricular Dysfunction in Marfan Syndrome.
  Brynn S Connor, Claudia A Algaze, Aistė Narkevičiūtė, Beatriz Anguiano, Mitchel Pariani, Yuri A Zarate, R Thomas Collins> ;The American Journal of Cardiology. 2022 Jul 15
• 2 citations
  The landscape of submicroscopic structural variants at thegene cluster on Xq28 underlying blue cone monochromacy.
  Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Zeinab Ravesh, Artur V Cideciyan, Katarina Stingl, Isabelle Audo, Isabelle Meunier, Beatrice Bocquet, Elias I Tra...> ;Proceedings of the National Academy of Sciences of the United States of America. 2022 Jul 5
• 1 citations
  A clinical scoring system for early onset (neonatal) Marfan syndrome.
  Yuri A Zarate, Shaine A Morris, Anna Blackshare, Claudia A Algaze, Brynn S Connor, Andrew J Kim, Katherine E Yutzey, Erin M Miller, Kathryn Nicole Weaver, Ronnie Thoma...> ;Genetics in Medicine. 2022 Jul 1
• 3 citations
  Craniosynostosis is a feature of Costello syndrome.
  K Nicole Weaver, Marguerite Care, Emily Wakefield, Yuri A Zarate, Jesse Skoch, Karen W Gripp, Carlos E Prada> ;American Journal of Medical Genetics. Part A. 2022 Apr 1
• 1 citations
  Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
  Katherine A Inskeep, Yuri A. Zarate, Danielle Monteil, Jürgen Spranger, Dan Doherty, Rolf W. Stottmann, K. Nicole Weaver> ;American Journal of Medical Genetics. Part A. 2021 Sep 15
• Response to Hamosh et al.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Sep 2
• 2 citations
  SATB2-associated syndrome in adolescents and adults.
  Yuri A. Zarate, Katherine A. Bosanko, Aisling R. Caffrey> ;American Journal of Medical Genetics. Part A. 2021 Aug 1
• 16 citations
  Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
  Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie F. Rustad, Natasha J Brown, Dawn L. Earl, Boris Keren, Olga Levchenko, Sinje Geuer, Sarah Verhe...> ;American Journal of Human Genetics. 2021 May 6
• 16 citations
  De novo variants in snap25 cause an early-onset developmental and epileptic encephalopathy
  Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wend...> ;Genetics in Medicine. 2021 Apr 30
• 1 citations
  Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
  Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wend...> ;Genetics in Medicine. 2021 Mar 8
• 2 citations
  Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.
  Yuri A. Zarate, Jenny-Li Örsell, Katherine A. Bosanko, Sujata Srikanth, Lauren Cascio, Rini Pauly, Luigi Boccuto> ;Metabolic Brain Disease. 2021 Mar 4
• 7 citations
  CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
  Yuri A. Zarate, Tomoko Uehara, Kota Abe, Masayuki Oginuma, Sora Harako, Shizuka Ishitani, Anna-Elina Lehesjoki, Tatjana Bierhals, Katja Kloth, Nadja Ehmke, Denise Horn...> ;Genetics in Medicine. 2021 Jan 25
• 7 citations
  Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
  Yuri A. Zarate, Katherine A. Bosanko, Mary Ann Thomas, David T. Miller, Kristina Cusmano-Ozog, Antonio Martinez-Monseny, Cynthia J. Curry, John M. Graham, Lea Velsher,...> ;Clinical Genetics. 2021 Apr 1
• 63 citations
  A dyadic approach to the delineation of diagnostic entities in clinical genomics.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Jan 7
• Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases
  Yuri A. Zarate, Hilary J. Vernon, Katherine A. Bosanko, Praveen K. Ramani, Murat Gokden, Karin Writzl, Marija Meznaric, Tina Vipotnik Vesnaver, Raghu H. Ramakrishnaiah...> ;Frontiers in Genetics. 2021 Jun 21
• Introduction to the special issue on Clinical Genetics in Latin America.
  Carlos E. Prada, Denise P. Cavalcanti, Ida Vanessa Doederlein Schwartz, Yuri A. Zarate> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2020 Dec 1
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