List of works - Yuri A Zarate

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

scientific article published on 22 December 2010

A case of minimal change disease in a Fabry patient

scientific article published on 30 October 2009

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

scientific article published in February 2007

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

scientific article published on 05 June 2020

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

scientific article published on 22 March 2017

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

scientific article published on 04 April 2016

Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls

scientific article published on 30 May 2020

Aortic dilation in pediatric patients.

scientific article published on 13 June 2015

Aortic dilation, genetic testing, and associated diagnoses

scientific article published on 02 July 2015

Arterial tortuosity syndrome: 40 new families and literature review

scientific article

Behavioral phenotype and sleep problems in SATB2-associated syndrome

scientific article published on 16 August 2019

Bone health and SATB2-associated syndrome.

scientific article published on 8 August 2017

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

scientific article published on 19 April 2016

Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature

scientific article published on 20 May 2014

Clinical utility of the X-chromosome array.

scientific article published on 3 December 2012

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

scientific article published in January 2018

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

scientific article published on 02 April 2019

Correction: Arterial tortuosity syndrome: 40 new families and literature review

scientific article published on 01 August 2019

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

scientific article published on 21 November 2017

Dental radiographic findings in 18 individuals with SATB2-associated syndrome

article

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

scientific article published on 18 September 2013

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

scientific article

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

scientific article published on 13 April 2020

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

scientific article published on 8 February 2010

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol

scientific article published on 01 August 2009

Fabry's disease

scientific article published on 01 October 2008

First clinical report of an infant with microcephaly and CASC5 mutations

scientific article published on 05 May 2016

Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

scientific article published on 25 April 2019

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

scientific article published on 19 May 2020

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

scientific article published on 01 May 2015

Genetic causes of macroglossia: diagnostic approach

scientific article

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

scientific article published on 25 November 2019

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome

scientific article published on 31 January 2017

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

scientific article published on 31 December 2020

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

scientific article published on 09 August 2019

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

scientific article

Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation

scientific article

Intestinal malrotation in a patient with Pfeiffer syndrome type 2.

scientific article published on 28 February 2010

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

article by Benjamin R Ittleman et al published February 2018 in American Journal of Medical Genetics

Lessons from a pair of siblings with BPAN

scientific article published on 01 July 2016

Lessons from a pair of siblings with BPAN.

scientific article

Lethal presentation of neurofibromatosis and Noonan syndrome

scientific article published on 12 May 2011

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

scientific article published on 01 January 2020

Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome

scientific article published on 12 July 2020

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

article

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

scientific article published on 06 November 2014

Mutation update for the SATB2 gene

article

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

scientific article published on 13 February 2018

Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition

scientific article published in September 2007

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

scientific article published on 16 July 2019

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

scientific article published on 20 July 2017

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

scientific article published on 03 April 2014

Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p

scientific article published on 01 September 2014

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

scientific article published in June 2009

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

scientific article published on 13 December 2019

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

scientific article

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

scientific article published on 7 May 2014

Redefining the Etiologic Landscape of Cerebellar Malformations

scientific article published on 29 August 2019

SATB2-Associated Syndrome

scientific article published on 13 October 2017

SATB2-associated syndrome (SAS) and associated dental findings

scientific article published on 16 January 2019

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

scientific article published on 24 October 2016

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

scientific article published on 5 June 2016

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

scientific article published on 06 April 2015

Satb2 regulates proliferation and nuclear integrity of pre-osteoblasts

scientific article published on 17 July 2019

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

scientific article published on 22 November 2016

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

scientific article published on 07 November 2014

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

scientific article published on 12 August 2019

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

scientific article published on 17 August 2017

Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome

scientific article published on 01 July 2009

Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation

scientific article published on 21 July 2013

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

scientific article published on 24 September 2019

Widening phenotypic spectrum of GABBR2 mutation

scientific article published on 01 February 2019

List of works by Yuri A Zarate

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

A case of minimal change disease in a Fabry patient

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

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

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

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

Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls

Aortic dilation in pediatric patients.

Aortic dilation, genetic testing, and associated diagnoses

Arterial tortuosity syndrome: 40 new families and literature review

Behavioral phenotype and sleep problems in SATB2-associated syndrome

Bone health and SATB2-associated syndrome.

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

Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature

Clinical utility of the X-chromosome array.

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

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

Correction: Arterial tortuosity syndrome: 40 new families and literature review

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

Dental radiographic findings in 18 individuals with SATB2-associated syndrome

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

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

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

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

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol

Fabry's disease

First clinical report of an infant with microcephaly and CASC5 mutations

Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

Genetic causes of macroglossia: diagnostic approach

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

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

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

Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation

Intestinal malrotation in a patient with Pfeiffer syndrome type 2.

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

Lessons from a pair of siblings with BPAN

Lessons from a pair of siblings with BPAN.

Lethal presentation of neurofibromatosis and Noonan syndrome

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

Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome

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

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

Mutation update for the SATB2 gene

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition

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

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

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

Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p

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

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

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

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

Redefining the Etiologic Landscape of Cerebellar Malformations

SATB2-Associated Syndrome

SATB2-associated syndrome (SAS) and associated dental findings

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

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

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

Satb2 regulates proliferation and nuclear integrity of pre-osteoblasts

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

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

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

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

Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome

Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation

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

Widening phenotypic spectrum of GABBR2 mutation