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Author Details

Jennifer Friedman
University of California, Rady Children's Hospital San Diego
1985
73
26
PMIDPaper TitleJournal TitlePublished Year
36385166Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.Mol Psychiatry2023
37977708The wisdom of our mentors: clinical pearls in movement disorders.Lancet Neurol2023
37185208<i>ARF1</i>-related disorder: phenotypic and molecular spectrum.J Med Genet2023
37205244Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics.Mov Disord Clin Pract2023
36477332Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.Brain2023
36718996Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.Am J Med Genet A2023
36727539A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism.Mov Disord2023
34622282Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.Hum Mol Genet2022
35384065Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.Mov Disord2022
35737950Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.Brain2022
36210382Approaches to long-read sequencing in a clinical setting to improve diagnostic rate.Sci Rep2022
35916866De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.Genet Med2022
35027293DNA methylation episignature in Gabriele-de Vries syndrome.Genet Med2022
34931062Characterization of a patient-derived variant of GPX4 for precision therapy.Nat Chem Biol2022
35295849Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>.Front Cell Dev Biol2022
35232796Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndrome.J Med Genet2022
33152132Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.Mov Disord2021
33583022Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.J Inherit Metab Dis2021
34950897AHDC1 missense mutations in Xia-Gibbs syndrome.HGG Adv2021
34514047Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.Mov Disord Clin Pract2021
34514045Commentary: Anderson-Fabry Disease: A Rare Cause of Levodopa-Responsive Early Onset Parkinsonism.Mov Disord Clin Pract2021
34076366Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.Mol Genet Genomic Med2021
34245036Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.J Inherit Metab Dis2021
33944996Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.Hum Genet2021
33443316Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.J Inherit Metab Dis2021
32456656Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies.Orphanet J Rare Dis2020
31723249De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.Genet Med2020
33150406KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain2020
33015234Photosensitive Epilepsy Syndromes Mimicking Motor Tics.Mov Disord Clin Pract2020
32758270Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.Orphanet J Rare Dis2020
32546208Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.BMC Neurol2020
30755602Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.Nat Commun2019
31621627Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.Parkinsonism Relat Disord2019
31019026Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.Sci Transl Med2019
29644095Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.NPJ Genom Med2018
30128325Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.Ann Clin Transl Neurol2018
30107960Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.Pediatr Neurol2018
27933653ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.Mov Disord2017
29093066Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.Neurology2017
28949039Low CSF 5-HIAA in Myoclonus Dystonia.Mov Disord2017
28575647YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.Am J Hum Genet2017
26810587Toward clinical genomics in everyday medicine: perspectives and recommendations.Expert Rev Mol Diagn2016
26306646The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Eur J Hum Genet2016
27830117The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.Mol Genet Metab Rep2016
26686870ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.Mov Disord2016
27080360What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.Pediatr Neurol2016
25790160A genome sequencing program for novel undiagnosed diseases.Genet Med2015
30363551Holoprosencephaly-Associated Hyperkinesia.Mov Disord Clin Pract2015
26537056ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.Neurology2015
26123188Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.Mol Genet Metab2015
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Rady Children's Institute for Genomic Medicine
Co-authored papers 5
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Scripps Science Institute
Co-authored papers 5
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University of California
Co-authored papers 4
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University of Washington School of Medicine
Co-authored papers 4
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University of California
Co-authored papers 4
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University of Washington School of Medicine
Co-authored papers 4
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University of Washington
Co-authored papers 3
Bert B A de Vries
Radboud University Medical Center
Co-authored papers 3
Richard Haas
University of California
Co-authored papers 3
Peter P Pramstaller
Co-authored papers 3
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Co-authored papers 3
Luis Rohena
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Maastricht University Medical Centre
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Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 2
Ashley A Scott-Van Zeeland
1] The Scripps Translational Science Institute
Co-authored papers 2
Petter Str??mme
University of Oslo
Co-authored papers 2
Vandana Shashi
Duke University School of Medicine
Co-authored papers 2
Deborah A Nickerson
University of Washington
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Julie A Cakici
School of Public Health, San Diego State University
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Eric J Topol
Universidade Federal de Sao Paulo
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Patricia L Kramer
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Heidi Cope
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Release 1.2