R. Lozano

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Aliases
R. Lozano, Reymundo Lozano
Publication record
68 papers · 1,529 citations · H-index 22

PAPERS

The Aberrant Behavior Checklist for Fragile X Syndrome: A Qualitative Clinician Evaluation of Content Validity
20253 citationsauthor #8
O25: Molecular mechanisms of FXTAS: A transcriptomic and epigenomic analysis of postmortem prefrontal cortex (AB-9) tissue
20250 citationsauthor #1
Relationship Between Intellectual Disability and Behavioral Comorbidity in Children With Fragile X Syndrome.
20250 citationsauthor #5
Gait Abnormalities in Children with Phelan-McDermid Syndrome
20231 citationsauthor #3
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
202352 citationsauthor #28
P229: Expanding the phenotype of autosomal recessive limb-girdle muscular dystrophy-3: A case report of a patient with autism spectrum disorder
20230 citationsauthor #4
P207: A novel case of a female carrier of a fragile X full expansion with methylation on the normal allele
20230 citationsauthor #5
Randomized clinical trial of low dose suramin intravenous infusions for treatment of autism spectrum disorder
20234 citationsauthor #4
Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder
20230 citationsauthor #4
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
20228 citationsauthor #7
Exploring Parents’ Concerns Regarding Long-Term Support and Living Arrangements for Their Children with Fragile X Syndrome
20222 citationsauthor #3
Height and BMI in fragile X syndrome: A longitudinal assessment
202211 citationsauthor #4
The Impact of the COVID-19 Pandemic on School-Aged Children with Fragile X Syndrome
20223 citationsauthor #4
Parent and Caregiver Perspectives towards Cannabidiol as a Treatment for Fragile X Syndrome
20223 citationsauthor #5
Case Reports of Aortic Aneurism in Fragile X Syndrome
20221 citationsauthor #4
Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives
202212 citationsauthor #1
Abstracts for the 44th Human Genetics Society of Australasia Annual Scientific Meeting, 14–17 August 2021
20210 citationsauthor #131
Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing
20214 citationsauthor #3
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
202152 citationsauthor #8
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
202118 citationsauthor #32
Focused Revision: ACMG practice resource: Genetic evaluation of short stature
202115 citationsauthor #5
SURAMIN INTRAVENOUS INFUSION FOR TREATING BOYS WITH AUTISM SPECTRUM DISORDER: RESULTS OF A 14-WEEK, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, MULTIDOSE, PHASE 2 STUDY
20211 citationsauthor #5
Prospective and detailed behavioral phenotyping in DDX3X syndrome
202147 citationsauthor #9
Identity and Reproductive Aspects in Females with Fragile X Syndrome
20212 citationsauthor #4
FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
202150 citationsauthor #1
Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms
202132 citationsauthor #5
FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
20210 citationsauthor #1
Response to Placebo in Fragile X Syndrome Clinical Trials: An Initial Analysis
202024 citationsauthor #7
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
2018168 citationsauthor #9
Prospective investigation of FOXP1 syndrome
201777 citationsauthor #8
Medication Treatment in an Adolescent Female with FOXP1 Mutation
20170 citationsauthor #2
A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome
201771 citationsauthor #4
A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome
201771 citationsauthor #5
Title A randomized double-blind , placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome
20170 citationsauthor #4
A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome
20170 citationsauthor #4
Aging in Fragile X Premutation Carriers
201613 citationsauthor #1
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations
201622 citationsauthor #1
Fragile X syndrome: A review of clinical management.
201675 citationsauthor #1
Aging in Fragile X Premutation Carriers
20160 citationsauthor #1
Baby girl with right labia majora mass
20160 citationsauthor #3
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
20161 citationsauthor #10
The neurobiology of the Prader-Willi phenotype of fragile X syndrome.
201619 citationsauthor #2
Alcohol use dependence in fragile X syndrome.
201611 citationsauthor #2
Executive Dysfunction in Female FMR1 Premutation Carriers
201628 citationsauthor #4
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
201635 citationsauthor #10
Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis.
20163 citationsauthor #4
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders
201637 citationsauthor #7
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach
201513 citationsauthor #15
Methadone use in a male with the FMRI premutation and FXTAS
201523 citationsauthor #2
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
201552 citationsauthor #1
Advances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum Disorder.
201522 citationsauthor #1
Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases.
201430 citationsauthor #5
Targeted treatments in fragile X syndrome
20141 citationsauthor #3
A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form
201435 citationsauthor #2
Modulation of the GABAergic pathway for the treatment of fragile X syndrome
201463 citationsauthor #1
Genomic studies in fragile X premutation carriers
201429 citationsauthor #1
A family with two female siblings with compound heterozygous FMR1 premutation alleles
20144 citationsauthor #2
Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.
201421 citationsauthor #2
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
201461 citationsauthor #2
Modulation of the GABAergic pathway for the treatment of fragile X syndrome
20140 citationsauthor #1
Participation of underrepresented minority children in clinical trials for Fragile X syndrome and other neurodevelopmental disorders.
20149 citationsauthor #5
Genomic studies in fragile X premutation carriers
20141 citationsauthor #1
Translational research guided by animal studies in Fragile X Disorders.
20140 citationsauthor #2
Association between macroorchidism and intelligence in FMR1 premutation carriers
20149 citationsauthor #1
Fragile X spectrum disorders.
2014166 citationsauthor #1
Parent-delivered touchscreen intervention for children with fragile X syndrome.
201411 citationsauthor #4
Treatment of Fragile X Syndrome and Fragile X-associated Disorders
20143 citationsauthor #1
Modulation of the GABAergic pathway for the treatment of fragile X syndrome
20140 citationsauthor #1

TIMELINE

2014 443 citations

2015 110 citations

2016 244 citations

2017 148 citations

2018 168 citations

2020 24 citations

2021 221 citations

2022 40 citations

2023 57 citations

2025 3 citations

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