Yuri A Zarate

Yuri A Zarate

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Yuri A Zarate

Yuri A Zarate

Publications by authors named "Yuri A Zarate"

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Speech, language, and feeding phenotypes of SATB2-associated syndrome.

Clin Genet 2019 Dec 12;96(6):485-492. Epub 2019 Aug 12.

Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

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http://dx.doi.org/10.1111/cge.13619DOI Listing
December 2019

Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution.

J Hum Genet 2019 12 24;64(12):1243-1245. Epub 2019 Sep 24.

Division of Medical Genetics, A. I. du Pont Hospital for Children/Nemours, Wilmington, DE, USA.

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http://dx.doi.org/10.1038/s10038-019-0673-6DOI Listing
December 2019

Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene.

Clin Dysmorphol 2019 Dec 13. Epub 2019 Dec 13.

Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000309DOI Listing
December 2019

Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.

Eur J Med Genet 2019 Nov 25:103817. Epub 2019 Nov 25.

Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103817DOI Listing
November 2019

Nuclear radiation and prevalence of structural birth defects among infants born to women from the Marshall Islands.

Birth Defects Res 2019 10 16;111(16):1192-1204. Epub 2019 Jul 16.

Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences, Arkansas Center for Birth Defects Research and Prevention, Little Rock, Arkansas.

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http://dx.doi.org/10.1002/bdr2.1551DOI Listing
October 2019

Satb2 regulates proliferation and nuclear integrity of pre-osteoblasts.

Bone 2019 Oct 17;127:488-498. Epub 2019 Jul 17.

Department of Biological Sciences, University of Massachusetts Lowell, Lowell, MA, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708767PMC
October 2019

Widening phenotypic spectrum of GABBR2 mutation.

Acta Neurol Belg 2019 Sep 1;119(3):493-496. Epub 2019 Feb 1.

Section of Genetics and Metabolism, Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

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http://dx.doi.org/10.1007/s13760-019-01088-5DOI Listing
September 2019

Behavioral phenotype and sleep problems in SATB2-associated syndrome.

Dev Med Child Neurol 2019 Aug 16. Epub 2019 Aug 16.

Department of Child and Adolescent Psychiatry, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

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http://dx.doi.org/10.1111/dmcn.14330DOI Listing
August 2019

Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.

Am J Med Genet A 2019 06 2;179(6):1047-1052. Epub 2019 Apr 2.

Division of Cardiology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California.

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http://dx.doi.org/10.1002/ajmg.a.61145DOI Listing
June 2019

SATB2-associated syndrome (SAS) and associated dental findings.

Spec Care Dentist 2019 Mar 16;39(2):220-224. Epub 2019 Jan 16.

Arkansas Children's Hospital, Little Rock, Arkansas, USA.

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http://doi.wiley.com/10.1111/scd.12340
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http://dx.doi.org/10.1111/scd.12340DOI Listing
March 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome.

Cleft Palate Craniofac J 2019 01 30;56(1):123-126. Epub 2018 Apr 30.

3 Department of Otolaryngology, Head and Neck Surgery, The University of Arkansas for Medical Sciences, Little Rock, AR, USA.

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http://dx.doi.org/10.1177/1055665618773192DOI Listing
January 2019

Dental radiographic findings in 18 individuals with SATB2-associated syndrome.

Clin Oral Investig 2018 Nov 12;22(8):2947-2951. Epub 2018 Oct 12.

Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

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http://link.springer.com/10.1007/s00784-018-2702-9
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http://dx.doi.org/10.1007/s00784-018-2702-9DOI Listing
November 2018

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.

Ophthalmic Genet 2018 Jan-Feb;39(1):29-34. Epub 2017 Jul 20.

a Jones Eye Institute, University of Arkansas for Medical Sciences , Little Rock , Arkansas , USA.

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http://dx.doi.org/10.1080/13816810.2017.1335332DOI Listing
March 2018

Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.

Am J Med Genet A 2018 02 21;176(2):487-491. Epub 2017 Nov 21.

Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

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http://dx.doi.org/10.1002/ajmg.a.38532DOI Listing
February 2018

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Am J Med Genet A 2017 Oct 17;173(10):2814-2820. Epub 2017 Aug 17.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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http://doi.wiley.com/10.1002/ajmg.a.38404
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http://dx.doi.org/10.1002/ajmg.a.38404DOI Listing
October 2017

Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use.

Am J Med Genet A 2017 May 22;173(5):1194-1199. Epub 2017 Mar 22.

Department of Pediatrics, Section of Pediatric Cardiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

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http://dx.doi.org/10.1002/ajmg.a.38138DOI Listing
May 2017

Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.

Neuropediatrics 2017 Apr 22;48(2):108-110. Epub 2016 Nov 22.

Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States.

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http://dx.doi.org/10.1055/s-0036-1593984DOI Listing
April 2017

An infant with ash-leaf and café au lait spots: a case of double phakomatosis.

Acta Neurol Belg 2017 03 4;117(1):323-324. Epub 2016 Apr 4.

Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, 1 Children's Way, Little Rock, AR, 72202, USA.

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http://link.springer.com/10.1007/s13760-016-0638-x
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http://dx.doi.org/10.1007/s13760-016-0638-xDOI Listing
March 2017

SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.

Am J Med Genet A 2017 Feb 24;173(2):327-337. Epub 2016 Oct 24.

Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5297989PMC
February 2017

First clinical report of an infant with microcephaly and CASC5 mutations.

Am J Med Genet A 2016 Aug 5;170(8):2215-8. Epub 2016 May 5.

Fulgent Diagnostics, Temple City, California.

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http://dx.doi.org/10.1002/ajmg.a.37726DOI Listing
August 2016

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Am J Med Genet A 2016 08 5;170(8):1967-73. Epub 2016 Jun 5.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.37722DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870868PMC
August 2016

Lessons from a pair of siblings with BPAN.

Eur J Hum Genet 2016 07 18;24(7):1080-3. Epub 2015 Nov 18.

Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.

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http://dx.doi.org/10.1038/ejhg.2015.242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070893PMC
July 2016

COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.

Am J Med Genet A 2016 07 19;170(7):1858-62. Epub 2016 Apr 19.

Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37664DOI Listing
July 2016

Aortic dilation, genetic testing, and associated diagnoses.

Genet Med 2016 Apr 2;18(4):356-63. Epub 2015 Jul 2.

Division of Cardiology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

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http://dx.doi.org/10.1038/gim.2015.88DOI Listing
April 2016

Aortic dilation in pediatric patients.

Eur J Pediatr 2015 Dec 13;174(12):1585-92. Epub 2015 Jun 13.

Divisions of Cardiology, Department of Pediatrics, The University of Arkansas for Medical Sciences, Little Rock, AR, USA.

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http://dx.doi.org/10.1007/s00431-015-2575-8DOI Listing
December 2015

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.

Am J Med Genet A 2015 Sep 25;167A(9):2168-75. Epub 2015 Apr 25.

Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

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http://dx.doi.org/10.1002/ajmg.a.37126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833020PMC
September 2015

STAR syndrome is part of the differential diagnosis of females with anorectal malformations.

Am J Med Genet A 2015 Aug 6;167A(8):1940-3. Epub 2015 Apr 6.

Division of Neonatology, University of Arkansas for Medical Sciences, Little Rock.

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http://dx.doi.org/10.1002/ajmg.a.37078DOI Listing
August 2015

Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.

Cleft Palate Craniofac J 2015 Mar 7;52(2):237-9. Epub 2014 May 7.

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http://dx.doi.org/10.1597/13-221DOI Listing
March 2015

Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results.

Cytogenet Genome Res 2014 6;144(2):104-8. Epub 2014 Nov 6.

Molecular Genetic Pathology, Arkansas Children's Hospital, Little Rock, Ark., USA.

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http://dx.doi.org/10.1159/000368649DOI Listing
February 2015

Impact of aortic aneurysm on hospitalizations in patients with marfan syndrome: a multi-institutional study.

Pediatr Cardiol 2015 Jan 6;36(1):132-9. Epub 2014 Aug 6.

Department of Pediatrics, The University of Arkansas for Medical Sciences College of Medicine, Little Rock, AR, USA,

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http://dx.doi.org/10.1007/s00246-014-0976-5DOI Listing
January 2015

Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.

Birth Defects Res A Clin Mol Teratol 2014 Dec 7;100(12):985-90. Epub 2014 Nov 7.

University of Arkansas for Medical Sciences, Department of Pediatrics, Little Rock, Arkansas; University of Arkansas for Medical Sciences, Division of Cardiology, Little Rock, Arkansas.

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http://doi.wiley.com/10.1002/bdra.23324
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http://dx.doi.org/10.1002/bdra.23324DOI Listing
December 2014

Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

J Child Neurol 2014 Aug 21;29(8):NP13-7. Epub 2013 Jul 21.

Medical University of South Carolina, Charleston, SC, USA.

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http://dx.doi.org/10.1177/0883073813492384DOI Listing
August 2014

Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B.

Am J Med Genet A 2014 Jul 3;164A(7):1857-9. Epub 2014 Apr 3.

Divison of Genetics, University of Arkansas for Medical Sciences College of Medicine, Little Rock, Arkansas.

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http://dx.doi.org/10.1002/ajmg.a.36515DOI Listing
July 2014

Description of the first case of adenomyomatosis of the gallbladder in an infant.

Case Rep Pediatr 2014 15;2014:248369. Epub 2014 Jun 15.

Division of Pediatric Gastroenterology, Hepatology and Nutrition, University of Arkansas for Medical Sciences College of Medicine, Little Rock, AR 72205, USA.

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http://dx.doi.org/10.1155/2014/248369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082867PMC
July 2014

Description of another case of 3q26.33-3q27.2 microdeletion supports a recognizable phenotype.

Eur J Med Genet 2013 Nov 18;56(11):624-5. Epub 2013 Sep 18.

Section of Genetics and Metabolism, Arkansas Children's Hospital, 1 Children's Way, Slot 512-22, Little Rock, AR 72202, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.09.004DOI Listing
November 2013

Genetic causes of macroglossia: diagnostic approach.

Pediatrics 2012 Feb 16;129(2):e431-7. Epub 2012 Jan 16.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2011-1732DOI Listing
February 2012

Lethal presentation of neurofibromatosis and Noonan syndrome.

Am J Med Genet A 2011 Jun 12;155A(6):1360-6. Epub 2011 May 12.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.33996DOI Listing
June 2011

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal.

Am J Med Genet A 2011 Feb 22;155A(2):386-91. Epub 2010 Dec 22.

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.33799DOI Listing
February 2011

Intestinal malrotation in a patient with Pfeiffer syndrome type 2.

Cleft Palate Craniofac J 2010 Nov 28;47(6):638-41. Epub 2010 Feb 28.

Greenwood Genetic Center, Columbia, South Carolina, USA.

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http://dx.doi.org/10.1597/09-115DOI Listing
November 2010

A case of minimal change disease in a Fabry patient.

Pediatr Nephrol 2010 Mar 30;25(3):553-6. Epub 2009 Oct 30.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1007/s00467-009-1353-0DOI Listing
March 2010

Evaluation of growth in patients with isolated cleft lip and/or cleft palate.

Pediatrics 2010 Mar 8;125(3):e543-9. Epub 2010 Feb 8.

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, 3333 Burnet Ave, MLC 4006, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1542/peds.2009-1656DOI Listing
March 2010

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol.

Am J Med Genet A 2009 Aug;149A(8):1691-7

Cincinnati Children's Hospital Medical Center, Ohio 45229, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32966
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http://dx.doi.org/10.1002/ajmg.a.32966DOI Listing
August 2009

Phenotypic and microscopic description of a new case of Ermine phenotype.

Am J Med Genet A 2009 Jun;149A(6):1253-6

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.32815DOI Listing
June 2009

Fabry's disease.

Lancet 2008 Oct;372(9647):1427-35

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/S0140-6736(08)61589-5DOI Listing
October 2008

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.

Am J Med Genet A 2007 Feb;143A(3):265-70

Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.31519DOI Listing
February 2007