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Author Details

Timothy W Yu
Harvard Medical School
1997
70
39
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36594517Data sharing to advance gene-targeted therapies in rare diseases.Am J Med Genet C Semin Med Genet2023
37031408Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
37279760Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.Am J Hum Genet2023
37438524A framework for individualized splice-switching oligonucleotide therapy.Nature2023
36691939Are we prepared to deliver gene-targeted therapies for rare diseases?Am J Med Genet C Semin Med Genet2023
36738469Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.Am J Med Genet C Semin Med Genet2023
36453229Whole-genome sequencing holds the key to the success of gene-targeted therapies.Am J Med Genet C Semin Med Genet2023
36594517Data sharing to advance gene-targeted therapies in rare diseases.Am J Med Genet C Semin Med Genet2023
37279760Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.Am J Hum Genet2023
37438524A framework for individualized splice-switching oligonucleotide therapy.Nature2023
37031408Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
36691939Are we prepared to deliver gene-targeted therapies for rare diseases?Am J Med Genet C Semin Med Genet2023
36738469Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.Am J Med Genet C Semin Med Genet2023
36453229Whole-genome sequencing holds the key to the success of gene-targeted therapies.Am J Med Genet C Semin Med Genet2023
35145310A solid start for gene therapy in Tay-Sachs disease.Nat Med2022
36064943Integrating rapid exome sequencing into NICU clinical care after a pilot research study.NPJ Genom Med2022
35860385Developing antisense oligonucleotides for a <i>TECPR2</i> mutation-induced, ultra-rare neurological disorder using patient-derived cellular models.Mol Ther Nucleic Acids2022
35145310A solid start for gene therapy in Tay-Sachs disease.Nat Med2022
35222234Modified Sensory Testing in Non-verbal Patients Receiving Novel Intrathecal Therapies for Neurological Disorders.Front Neurol2022
35860385Developing antisense oligonucleotides for a <i>TECPR2</i> mutation-induced, ultra-rare neurological disorder using patient-derived cellular models.Mol Ther Nucleic Acids2022
36064943Integrating rapid exome sequencing into NICU clinical care after a pilot research study.NPJ Genom Med2022
35222234Modified Sensory Testing in Non-verbal Patients Receiving Novel Intrathecal Therapies for Neurological Disorders.Front Neurol2022
34211152Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34211152Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
33658631Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.Genet Med2021
34519438Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.Mol Genet Genomic Med2021
33658631Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.Genet Med2021
34519438Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.Mol Genet Genomic Med2021
32820185Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.Sci Rep2020
32022391A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.Am J Med Genet A2020
31780822Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.Genet Med2020
32655885Children's rare disease cohorts: an integrative research and clinical genomics initiative.NPJ Genom Med2020
32820185Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.Sci Rep2020
31780822Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.Genet Med2020
32022391A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.Am J Med Genet A2020
32655885Children's rare disease cohorts: an integrative research and clinical genomics initiative.NPJ Genom Med2020
30609409Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.Am J Hum Genet2019
30209271Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.Genet Med2019
30609409Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.Am J Hum Genet2019
30979967Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.Eur J Hum Genet2019
31209396Recessive gene disruptions in autism spectrum disorder.Nat Genet2019
31395954Infant mortality: the contribution of genetic disorders.J Perinatol2019
30209271Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.Genet Med2019
31209396Recessive gene disruptions in autism spectrum disorder.Nat Genet2019
31395954Infant mortality: the contribution of genetic disorders.J Perinatol2019
30979967Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.Eur J Hum Genet2019
29068161DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.Hum Mutat2018
29986673The BabySeq project: implementing genomic sequencing in newborns.BMC Pediatr2018
29068161DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.Hum Mutat2018
29728376Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case report.Cold Spring Harb Mol Case Stud2018
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Collaborators

Broad Institute of MIT and Harvard
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Boston Children's Hospital
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Harvard Medical School
Co-authored papers 10
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UCSF Weill Institute for Neurosciences, University of California san francisco
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Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 9
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Vanderbilt Genetics Institute, Vanderbilt University
Co-authored papers 8
Boston Children's Hospital
Co-authored papers 8
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Baylor College of Medicine.
Co-authored papers 8
University of California los angeles
Co-authored papers 8
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Harvard Medical School.
Co-authored papers 8
University of California los angeles
Co-authored papers 7
Massachusetts General Hospital
Co-authored papers 7
The Broad Institute of MIT and Harvard
Co-authored papers 7
Autism and Developmental Medicine Institute
Co-authored papers 7
University of Florida, College of Medicine-Jacksonville
Co-authored papers 7
Yale School of Medicine
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University of California san francisco
Co-authored papers 7
Oregon Health & Science University (OHSU)
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University of Michigan ann arbor
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Renaissance School of Medicine, Stony Brook University
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Harvard Medical School, Brigham and Women's Hospital
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