List of works - Xilma R Ortiz-Gonzalez

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

scientific article published on 30 April 2019

An acid sensing ion channel (ASIC) localizes to small primary afferent neurons in rats ⬇️

scientific article published on April 20, 1998

Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach

scientific article published on 02 June 2021

Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements

scientific article published on 15 September 2020

Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration.

scientific article

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

De novo GABRG2 mutations associated with epileptic encephalopathies.

scientific article published on 17 November 2016

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

scientific article

Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy

scientific article published on 20 July 2018

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

scientific article published on 18 November 2018

Focal cortical dysplasia is more common in boys than in girls ⬇️

scientific article published on February 13, 2013

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

scientific journal article

Ganglioglioma arising from dysplastic cortex.

scientific article

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy

scientific article published on 28 December 2017

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Intraplantar injection of hyaluronic acid at low pH into the rat hindpaw produces tissue acidosis and enhances withdrawal responses to mechanical stimuli

scientific article published on 01 February 1998

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients

scientific article published on 22 August 2016

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

scientific article published on 13 December 2017

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

scientific article published on 03 September 2019

Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A

scientific article published on 01 August 2019

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

scientific journal article

NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.

scientific article published on 18 January 2018

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

scientific article published on 13 February 2018

Neural differentiation and incorporation of bone marrow-derived multipotent adult progenitor cells after single cell transplantation into blastocyst stage mouse embryos.

scientific article

Neural induction of adult bone marrow and umbilical cord stem cells.

scientific article

Obituary: Jessica Anne Panzer, MD, PhD.

scientific article published on 14 July 2017

Pluripotency of mesenchymal stem cells derived from adult marrow

scientific article (publication date: 4 July 2002)

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

scientific article published on 29 March 2016

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup ⬇️

scientific article published on February 11, 2013

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

scientific article published on 6 December 2015

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy

scientific article published on 31 May 2018

List of works by Xilma R Ortiz-Gonzalez

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

An acid sensing ion channel (ASIC) localizes to small primary afferent neurons in rats ⬇️

Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach

Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements

Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

De novo GABRG2 mutations associated with epileptic encephalopathies.

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

Focal cortical dysplasia is more common in boys than in girls ⬇️

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

Ganglioglioma arising from dysplastic cortex.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Intraplantar injection of hyaluronic acid at low pH into the rat hindpaw produces tissue acidosis and enhances withdrawal responses to mechanical stimuli

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.

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

Neural differentiation and incorporation of bone marrow-derived multipotent adult progenitor cells after single cell transplantation into blastocyst stage mouse embryos.

Neural induction of adult bone marrow and umbilical cord stem cells.

Obituary: Jessica Anne Panzer, MD, PhD.

Pluripotency of mesenchymal stem cells derived from adult marrow

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup ⬇️

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy