Elizabeth Berry-Kravis to Humans
This is a "connection" page, showing publications Elizabeth Berry-Kravis has written about Humans.
Connection Strength
2.916
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Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS). J Neurodev Disord. 2023 07 26; 15(1):22.
Score: 0.047
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Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C. Pediatr Neurol. 2023 07; 144:99-103.
Score: 0.046
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A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX). J Neurodev Disord. 2022 11 25; 14(1):56.
Score: 0.045
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Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders. J Child Neurol. 2022 10; 37(10-11):797-812.
Score: 0.044
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Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies. Am J Intellect Dev Disabil. 2022 03 01; 127(2):90-94.
Score: 0.043
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The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome. Am J Med Genet A. 2022 03; 188(3):858-866.
Score: 0.042
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Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial. Nat Med. 2021 05; 27(5):862-870.
Score: 0.040
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Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders. Expert Rev Mol Diagn. 2021 03; 21(3):255-267.
Score: 0.040
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Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development. Semin Pediatr Neurol. 2021 04; 37:100879.
Score: 0.040
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Development of Neural Response to Novel Sounds in Fragile X Syndrome: Potential Biomarkers. Am J Intellect Dev Disabil. 2020 11 01; 125(6):449-464.
Score: 0.039
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Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome. Nutrients. 2020 Oct 14; 12(10).
Score: 0.039
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TECPR2 mutation-associated respiratory dysregulation: more than central apnea. J Clin Sleep Med. 2020 06 15; 16(6):977-982.
Score: 0.038
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Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death. Mov Disord. 2020 08; 35(8):1448-1456.
Score: 0.038
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A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome. Pediatr Neurol. 2020 09; 110:30-41.
Score: 0.038
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Anesthetic management of pediatric patients with Niemann-Pick disease type C for intrathecal 2-hydroxypropyl-?-cyclodextrin injection. Paediatr Anaesth. 2020 07; 30(7):766-772.
Score: 0.038
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Toilet Training in Fragile X Syndrome. J Dev Behav Pediatr. 2019 12; 40(9):751-761.
Score: 0.037
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Vocabulary comprehension in adults with fragile X syndrome (FXS). J Neurodev Disord. 2019 10 16; 11(1):25.
Score: 0.036
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Emerging pharmacological therapies in fragile X syndrome and autism. Curr Opin Neurol. 2019 08; 32(4):635-640.
Score: 0.036
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Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome. PLoS One. 2019; 14(1):e0209984.
Score: 0.034
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Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-?-Cyclodextrin. Pediatr Neurol. 2018 03; 80:24-34.
Score: 0.032
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Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handb Clin Neurol. 2018; 147:377-391.
Score: 0.032
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Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome. Nat Rev Drug Discov. 2018 04; 17(4):280-299.
Score: 0.032
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Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. Pediatrics. 2017 Jun; 139(Suppl 3):S194-S206.
Score: 0.031
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Importance of a specialty clinic for individuals with fragile X syndrome. Am J Med Genet A. 2016 12; 170(12):3144-3149.
Score: 0.029
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Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum. 2016 08; 15(4):475-82.
Score: 0.029
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Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future. Pediatr Neurol. 2016 12; 65:1-13.
Score: 0.029
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Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Sci Transl Med. 2016 Jan 13; 8(321):321ra5.
Score: 0.028
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Cognitive trajectories in rare neurogenetic diseases: minding the gaps and filling the potholes. Dev Med Child Neurol. 2016 Mar; 58(3):221-2.
Score: 0.028
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Neurological and endocrine phenotypes of fragile X carrier women. Clin Genet. 2016 Jan; 89(1):60-7.
Score: 0.027
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Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back. Neurotherapeutics. 2015 Jul; 12(3):584-608.
Score: 0.027
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Cholesterol levels in fragile X syndrome. Am J Med Genet A. 2015 Feb; 167A(2):379-84.
Score: 0.026
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Fragile X syndrome: a review of associated medical problems. Pediatrics. 2014 Nov; 134(5):995-1005.
Score: 0.026
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Autism and fragile X syndrome. Semin Neurol. 2014 Jul; 34(3):258-65.
Score: 0.025
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Fragile X gene expansions are not associated with dementia. Neurobiol Aging. 2014 Nov; 35(11):2637-2638.
Score: 0.025
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Feasibility, reproducibility, and clinical validity of the pediatric anxiety rating scale-revised for fragile X syndrome. Am J Intellect Dev Disabil. 2014 Jan; 119(1):1-16.
Score: 0.024
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Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome. Pediatr Neurol. 2014 Apr; 50(4):297-302.
Score: 0.024
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Outcome measures for clinical trials in fragile X syndrome. J Dev Behav Pediatr. 2013 Sep; 34(7):508-22.
Score: 0.024
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Development of an expressive language sampling procedure in fragile X syndrome: a pilot study. J Dev Behav Pediatr. 2013 May; 34(4):245-51.
Score: 0.023
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Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35.
Score: 0.022
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Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med. 2012 Sep 19; 4(152):152ra127.
Score: 0.022
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Fragile X syndrome and targeted treatment trials. Results Probl Cell Differ. 2012; 54:297-335.
Score: 0.021
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Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey. J Dev Behav Pediatr. 2012 Jan; 33(1):62-9.
Score: 0.021
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Executive dysfunction in young FMR1 premutation carriers: forme fruste of FXTAS or new phenotype? Neurology. 2011 Aug 16; 77(7):612-3.
Score: 0.020
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Seizures in fragile X syndrome: characteristics and comorbid diagnoses. Am J Intellect Dev Disabil. 2010 Nov; 115(6):461-72.
Score: 0.019
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A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet. 2009 Apr; 46(4):266-71.
Score: 0.017
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Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. J Dev Behav Pediatr. 2008 Aug; 29(4):293-302.
Score: 0.017
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Characterization of potential outcome measures for future clinical trials in fragile X syndrome. J Autism Dev Disord. 2008 Oct; 38(9):1751-7.
Score: 0.016
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Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord. 2007 Oct 31; 22(14):2018-30, quiz 2140.
Score: 0.016
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Sudden Infant Death Syndrome: review of implicated genetic factors. Am J Med Genet A. 2007 Apr 15; 143A(8):771-88.
Score: 0.015
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Neuropathic features in fragile X premutation carriers. Am J Med Genet A. 2007 Jan 01; 143A(1):19-26.
Score: 0.015
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Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial. J Child Adolesc Psychopharmacol. 2006 Oct; 16(5):525-40.
Score: 0.015
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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006 Nov 15; 174(10):1139-44.
Score: 0.015
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Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene. Am J Med Genet A. 2006 Aug 01; 140(15):1687-91.
Score: 0.015
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Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome. Am J Med Genet A. 2006 Jul 01; 140(13):1447-52.
Score: 0.014
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Changes in growth and seizure reduction in children on the ketogenic diet as a treatment for intractable epilepsy. J Am Diet Assoc. 2005 May; 105(5):718-25.
Score: 0.013
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Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol. 2005 Jan; 57(1):144-7.
Score: 0.013
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Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. Am J Respir Crit Care Med. 2004 Jul 01; 170(1):16-21.
Score: 0.012
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Psychopharmacology in fragile X syndrome--present and future. Ment Retard Dev Disabil Res Rev. 2004; 10(1):42-8.
Score: 0.012
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Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education. Cells. 2023 08 24; 12(17).
Score: 0.012
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Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1. Mol Genet Metab. 2023 11; 140(3):107656.
Score: 0.012
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Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044.
Score: 0.012
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Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP. Proc Natl Acad Sci U S A. 2023 07 04; 120(27):e2302534120.
Score: 0.012
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Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control. Exp Brain Res. 2023 Aug; 241(8):1975-1987.
Score: 0.012
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Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study. Nat Med. 2023 Jun; 29(6):1468-1475.
Score: 0.012
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Expressive language sampling and outcome measures for treatment trials in fragile X and down syndromes: composite scores and psychometric properties. Sci Rep. 2023 06 07; 13(1):9267.
Score: 0.012
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Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol. 2003 May; 53(5):616-23.
Score: 0.012
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Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome. Am J Intellect Dev Disabil. 2023 05 01; 128(3):254-268.
Score: 0.012
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The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities. J Appl Res Intellect Disabil. 2023 Mar; 36(2):394-404.
Score: 0.011
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Lymphocytic Extracellular Signal-Regulated Kinase Dysregulation in Autism Spectrum Disorder. J Am Acad Child Adolesc Psychiatry. 2023 05; 62(5):582-592.e2.
Score: 0.011
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FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers. Am J Intellect Dev Disabil. 2023 01 01; 128(1):1-20.
Score: 0.011
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Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1. Genet Med. 2023 03; 25(3):100349.
Score: 0.011
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Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability. Neurology. 2023 02 21; 100(8):e778-e789.
Score: 0.011
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The association between expressive language skills and adaptive behavior in individuals with Down syndrome. Sci Rep. 2022 11 21; 12(1):20014.
Score: 0.011
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Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002 Nov; 44(11):724-8.
Score: 0.011
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Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives. Genes (Basel). 2022 09 16; 13(9).
Score: 0.011
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Descriptive analysis of seizures and comorbidities associated with fragile X syndrome. Mol Genet Genomic Med. 2022 08; 10(8):e2001.
Score: 0.011
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Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders. Mol Ther. 2022 07 06; 30(7):2416-2428.
Score: 0.011
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Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study. Brain Cogn. 2022 06; 159:105851.
Score: 0.011
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Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Hum Mol Genet. 2022 02 21; 31(4):625-637.
Score: 0.011
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Independent evaluation of the harvard automated processing pipeline for Electroencephalography 1.0 using multi-site EEG data from children with Fragile X Syndrome. J Neurosci Methods. 2022 04 01; 371:109501.
Score: 0.011
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Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome. Contemp Clin Trials. 2022 03; 114:106704.
Score: 0.011
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Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort. Am J Med Genet A. 2022 04; 188(4):1029-1039.
Score: 0.011
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The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C. Sci Transl Med. 2021 12; 13(622):eabg2919.
Score: 0.011
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Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 Trial. Pediatr Neurol. 2022 02; 127:32-38.
Score: 0.011
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Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome. J Child Adolesc Psychopharmacol. 2021 12; 31(10):659-669.
Score: 0.010
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Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 11 05; 13(1):53.
Score: 0.010
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Carnitine levels and the ketogenic diet. Epilepsia. 2001 Nov; 42(11):1445-51.
Score: 0.010
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Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities. Nat Rev Drug Discov. 2021 09; 20(9):653-654.
Score: 0.010
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Normative database of postural sway measures using inertial sensors in typically developing children and young adults. Gait Posture. 2021 10; 90:112-119.
Score: 0.010
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Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort. Mov Disord. 2021 10; 36(10):2378-2386.
Score: 0.010
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Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum. 2022 Feb; 21(1):86-98.
Score: 0.010
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A novel measure of matching categories for early development: Item creation and pilot feasibility study. Res Dev Disabil. 2021 Aug; 115:103993.
Score: 0.010
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Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation. Fertil Steril. 2021 09; 116(3):843-854.
Score: 0.010
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Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome. Psychoneuroendocrinology. 2021 07; 129:105266.
Score: 0.010
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Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS). Genet Med. 2021 09; 23(9):1656-1663.
Score: 0.010
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Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation. Pediatrics. 2021 05; 147(5).
Score: 0.010
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Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Mol Autism. 2021 04 28; 12(1):29.
Score: 0.010
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Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis. Cell Rep. 2021 04 13; 35(2):108991.
Score: 0.010
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Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling. J Neurodev Disord. 2021 04 08; 13(1):13.
Score: 0.010
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Bruising and the ketogenic diet: evidence for diet-induced changes in platelet function. Ann Neurol. 2001 Jan; 49(1):98-103.
Score: 0.010
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Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. Mol Genet Metab. 2020 12; 131(4):405-417.
Score: 0.010
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Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480.
Score: 0.010
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The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS. Cerebellum. 2021 Apr; 20(2):212-221.
Score: 0.010
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Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. J Autism Dev Disord. 2020 Sep; 50(9):3276-3295.
Score: 0.010
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Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. J Dev Behav Pediatr. 2020 Jun/Jul; 41(5):388-396.
Score: 0.009
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Normative database of spatiotemporal gait parameters using inertial sensors in typically developing children and young adults. Gait Posture. 2020 07; 80:206-213.
Score: 0.009
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Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396.
Score: 0.009
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Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics. Pediatr Neurol. 2020 09; 110:64-70.
Score: 0.009
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Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity. J Neurodev Disord. 2020 03 24; 12(1):10.
Score: 0.009
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Validation of the NIH Toolbox Cognitive Battery in intellectual disability. Neurology. 2020 03 24; 94(12):e1229-e1240.
Score: 0.009
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Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS). PLoS One. 2020; 15(2):e0225191.
Score: 0.009
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Prenatal testing for late infantile neuronal ceroid lipofuscinosis. Ann Neurol. 2000 Feb; 47(2):254-7.
Score: 0.009
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Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31.
Score: 0.009
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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Mol Genet Metab. 2020 04; 129(4):292-302.
Score: 0.009
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Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome. Brain Cogn. 2020 03; 139:105511.
Score: 0.009
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Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature. Mol Autism. 2019; 10:50.
Score: 0.009
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Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation. Physiol Behav. 2020 02 01; 214:112746.
Score: 0.009
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Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis. J Autism Dev Disord. 2019 Nov; 49(11):4595-4602.
Score: 0.009
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Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. Sci Adv. 2019 08; 5(8):eaaw7195.
Score: 0.009
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Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation. PLoS One. 2019; 14(7):e0219924.
Score: 0.009
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Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
Score: 0.009
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N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease. J Lipid Res. 2019 08; 60(8):1410-1424.
Score: 0.009
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Preventive care services and health behaviors in children with fragile X syndrome. Disabil Health J. 2019 10; 12(4):564-573.
Score: 0.009
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Altered steady state and activity-dependent de novo protein expression in fragile X syndrome. Nat Commun. 2019 04 12; 10(1):1710.
Score: 0.009
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Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. Neurology. 2019 04 16; 92(16):e1912-e1925.
Score: 0.009
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Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members. Am J Med Genet A. 2019 03; 179(3):503-506.
Score: 0.009
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Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents. Sci Rep. 2018 11 19; 8(1):16970.
Score: 0.009
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Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43.
Score: 0.008
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Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome. Gait Posture. 2018 10; 66:288-293.
Score: 0.008
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Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots. Mol Genet Metab. 2019 02; 126(2):183-187.
Score: 0.008
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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet. 2017 Nov 02; 101(5):856-865.
Score: 0.008
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Fragile X syndrome. Nat Rev Dis Primers. 2017 Sep 29; 3:17065.
Score: 0.008
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Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results. Neuropsychopharmacology. 2018 02; 43(3):503-512.
Score: 0.008
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Intrathecal 2-hydroxypropyl-?-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. Lancet. 2017 Oct 14; 390(10104):1758-1768.
Score: 0.008
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The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary. Pediatrics. 2017 06; 139(Suppl 3):S147-S152.
Score: 0.008
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FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. Pediatrics. 2017 Jun; 139(Suppl 3):S183-S193.
Score: 0.008
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Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. Pediatrics. 2017 Jun; 139(Suppl 3):S216-S225.
Score: 0.008
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A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings. Clin Epigenetics. 2016; 8:130.
Score: 0.007
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Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. Cerebellum. 2016 10; 15(5):578-86.
Score: 0.007
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Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series. Cerebellum. 2016 10; 15(5):623-31.
Score: 0.007
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Clinicians' experiences with the fragile X clinical and research consortium. Am J Med Genet A. 2016 12; 170(12):3138-3143.
Score: 0.007
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Development of a bile acid-based newborn screen for Niemann-Pick disease type C. Sci Transl Med. 2016 05 04; 8(337):337ra63.
Score: 0.007
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Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children. Chest. 2016 Mar; 149(3):809-15.
Score: 0.007
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Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Cerebellum. 2015 Dec; 14(6):650-62.
Score: 0.007
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Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. Respir Physiol Neurobiol. 2016 Jan 15; 221:59-63.
Score: 0.007
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Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations. Pediatr Res. 1995 Nov; 38(5):638-43.
Score: 0.007
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Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. Orphanet J Rare Dis. 2015 Aug 25; 10:103.
Score: 0.007
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Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening. Pediatrics. 2015 Aug; 136(2):e433-40.
Score: 0.007
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White matter disease and cognitive impairment in FMR1 premutation carriers. Neurology. 2015 May 26; 84(21):2146-52.
Score: 0.007
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Activation of peroxisome proliferator-activated receptor a induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders. J Biol Chem. 2015 Apr 17; 290(16):10309-24.
Score: 0.007
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New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry. Am J Med Genet. 1994 Oct 15; 53(1):94-6.
Score: 0.006
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X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. Ann Neurol. 1994 Aug; 36(2):229-33.
Score: 0.006
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Developing a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome. Qual Life Res. 2015 Feb; 24(2):305-14.
Score: 0.006
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Climbing the branches of a family tree: diagnosis of fragile X syndrome. J Pediatr. 2014 Jun; 164(6):1292-5.
Score: 0.006
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Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence. Am J Med Genet. 1994 Jan 01; 49(1):67-73.
Score: 0.006
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Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome. Acta Paediatr. 2013 Dec; 102(12):e546-52.
Score: 0.006
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Development of mavoglurant and its potential for the treatment of fragile X syndrome. Expert Opin Investig Drugs. 2014 Jan; 23(1):125-34.
Score: 0.006
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The challenges of clinical trials in fragile X syndrome. Psychopharmacology (Berl). 2014 Mar; 231(6):1237-50.
Score: 0.006
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Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome. Gait Posture. 2014 Feb; 39(2):827-30.
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[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management]. Rev Mal Respir. 2013 Oct; 30(8):706-33.
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Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing. J Mol Diagn. 2013 Jul; 15(4):518-25.
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CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77.
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Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. Mov Disord. 2013 Sep; 28(10):1462-3.
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Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A. 2013 Apr; 161A(4):771-8.
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111.
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Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome. Am J Med Genet. 1993 Jan 01; 45(1):81-7.
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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology. 2013 Jan 15; 80(3):268-75.
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A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. Pediatrics. 2012 Nov; 130(5):e1382-4.
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Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis? Indian J Pediatr. 2013 Aug; 80(8):688-90.
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Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). Am J Med Genet A. 2012 Sep; 158A(9):2297-301.
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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012 Nov; 131(11):1761-73.
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Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment. J Autism Dev Disord. 2012 Jul; 42(7):1377-92.
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Cyclic AMP metabolism in fragile X syndrome. Ann Neurol. 1992 Jan; 31(1):22-6.
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Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome. J Autism Dev Disord. 2011 Nov; 41(11):1515-22.
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. Pediatr Res. 2011 Oct; 70(4):375-8.
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Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol. 2012 Feb; 47(2):153-61.
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Monozygotic twins discordant for ROHHAD phenotype. Pediatrics. 2011 Sep; 128(3):e711-5.
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Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond. Neuropsychopharmacology. 2012 Jan; 37(1):178-95.
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Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol. 2011 Oct; 122(4):467-79.
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FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord. 2011 Aug 15; 26(10):1900-6.
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Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. Hum Mol Genet. 2011 Aug 01; 20(15):3079-92.
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Autonomic regulation in fragile X syndrome. Dev Psychobiol. 2011 Dec; 53(8):785-95.
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Racial differences may influence the role of cholecystokinin polymorphisms in Parkinson's disease hallucinations. Mov Disord. 2011 Aug 01; 26(9):1781-2.
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Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet. 2011 Feb 11; 88(2):138-49.
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Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med. 2011 Jan 05; 3(64):64ra1.
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Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. Diagn Mol Pathol. 2010 Dec; 19(4):224-31.
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Open-label add-on treatment trial of minocycline in fragile X syndrome. BMC Neurol. 2010 Oct 11; 10:91.
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Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J. 2010 Aug 01; 429(3):545-52.
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Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics. 2010 Jul; 7(3):264-74.
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Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet. 2010 Jul; 78(1):38-46.
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An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010 Mar 15; 181(6):626-44.
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Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One. 2010 Mar 05; 5(3):e9476.
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Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. Pediatr Pulmonol. 2010 Jan; 45(1):92-8.
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Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet. 2010 Jan 15; 19(2):299-312.
Score: 0.005
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A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes. Genes Brain Behav. 2010 Feb; 9(1):53-64.
Score: 0.004
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Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 05; 150B(4):545-53.
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Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol. 2009 Jun; 44(6):521-35.
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A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009 Jun; 70(6):852-62.
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Advances in the treatment of fragile X syndrome. Pediatrics. 2009 Jan; 123(1):378-90.
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Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP). Acta Paediatr. 2009 Mar; 98(3):482-9.
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Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. Respir Physiol Neurobiol. 2008 Dec 10; 164(1-2):38-48.
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A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome. J Intellect Disabil Res. 2009 Feb; 53(2):125-42.
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Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 05; 147B(7):1253-7.
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Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr. 2009 Jan; 98(1):192-5.
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HTR2A variation and sudden infant death syndrome: a case-control analysis. Acta Paediatr. 2009 Jan; 98(1):58-61.
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Genetic variation in the HTR1A gene and sudden infant death syndrome. Am J Med Genet A. 2008 Apr 01; 146A(7):930-3.
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Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan; 43(1):77-86.
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Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging. 2008; 3(2):251-62.
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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology. 2008 Apr 15; 70(16 Pt 2):1397-402.
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Development of genomic reference materials for Huntington disease genetic testing. Genet Med. 2007 Oct; 9(10):719-23.
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Sudden infant death syndrome: rare mutation in the serotonin system FEV gene. Pediatr Res. 2007 Aug; 62(2):180-2.
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007 Jul; 120(1):e179-88.
Score: 0.004
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CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 05; 144B(4):566-9.
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Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome. Clin Auton Res. 2007 Jun; 17(3):177-85.
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Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns. 2007 Oct; 16(5):593-606.
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Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord. 2007 Jan 15; 22(2):203-6.
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Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. Mov Disord. 2006 Oct; 21(10):1741-4.
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Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Pediatrics. 2006 Aug; 118(2):e408-14.
Score: 0.004
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PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med. 2006 Oct 15; 174(8):923-7.
Score: 0.004
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3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis. Am J Med Genet A. 2006 Jul 01; 140(13):1453-7.
Score: 0.004
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Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a mouse model of Huntington's disease. Proc Natl Acad Sci U S A. 2006 Jun 13; 103(24):9345-50.
Score: 0.004
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Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr Res. 2006 Jan; 59(1):39-45.
Score: 0.003
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Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 05; 139B(1):115-21.
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Amyloid mediates the association of apolipoprotein E e4 allele to cognitive function in older people. J Neurol Neurosurg Psychiatry. 2005 Sep; 76(9):1194-9.
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In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respir Physiol Neurobiol. 2005 Nov 15; 149(1-3):73-82.
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Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology. 2005 Jul 26; 65(2):299-301.
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The apolipoprotein E epsilon4 allele increases the odds of chronic cerebral infarction [corrected] detected at autopsy in older persons. Stroke. 2005 May; 36(5):954-9.
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The apolipoprotein E epsilon4 allele and incident Alzheimer's disease in persons with mild cognitive impairment. Neurocase. 2005 Feb; 11(1):3-7.
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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64(2):254-62.
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Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. Am J Respir Crit Care Med. 2005 Jan 01; 171(1):88.
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Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system. Arch Neurol. 2004 Aug; 61(8):1280-4.
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Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr Res. 2004 Sep; 56(3):391-5.
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Aging in individuals with the FMR1 mutation. Am J Ment Retard. 2004 Mar; 109(2):154-64.
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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004 Jan 28; 291(4):460-9.
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Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A. 2003 Dec 15; 123A(3):267-78.
Score: 0.003
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Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am J Med Genet A. 2003 Oct 15; 122A(3):238-45.
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Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene. Am J Med Genet A. 2003 Mar 15; 117A(3):268-74.
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Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003 Apr; 72(4):869-78.
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Incidence of Alzheimer disease in a biracial urban community: relation to apolipoprotein E allele status. Arch Neurol. 2003 Feb; 60(2):185-9.
Score: 0.003
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Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's disease. Neurology. 2003 Jan 28; 60(2):246-52.
Score: 0.003
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The apolipoprotein E epsilon 2 allele and decline in episodic memory. J Neurol Neurosurg Psychiatry. 2002 Dec; 73(6):672-7.
Score: 0.003
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Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol. 2002 Nov-Dec; 23(10):1757-66.
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The apolipoprotein E epsilon 4 allele and decline in different cognitive systems during a 6-year period. Arch Neurol. 2002 Jul; 59(7):1154-60.
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Genetic variation analysis in parkinson disease patients with and without hallucinations: case-control study. Arch Neurol. 2001 Feb; 58(2):209-13.
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Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers. Optom Vis Sci. 2000 Nov; 77(11):592-9.
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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet. 1999 Oct 08; 86(4):331-7.
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Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. Am J Med Genet. 1998 Dec 28; 80(5):473-80.
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Methylation analysis of the fragile X syndrome by PCR. Genet Test. 1997-1998; 1(3):151-5.
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Fragile X syndrome in a normal IQ male with learning and emotional problems. J Am Acad Child Adolesc Psychiatry. 1994 Nov-Dec; 33(9):1316-21.
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Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient. J Biol Chem. 1994 Feb 18; 269(7):4819-26.
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Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder. Life Sci. 1993; 52(25):2005-15.
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