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Author Details

Joel B Krier
Brigham and Women's Hospital
2005
35
18
PMIDPaper TitleJournal TitlePublished Year
37874643High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.J Clin Invest2023
35198712A novel variant in the <i>GNAS</i> complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism.JAAD Case Rep2022
35482014A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.Genet Med2022
36205747A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.Genet Med2022
34113007Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.Genet Med2021
33763331Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia.Mol Genet Metab Rep2021
33620701Clinical Utility of Pharmacogenomic Data Collected by a Health-System Biobank to Predict and Prevent Adverse Drug Events.Drug Saf2021
34752750Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.Am J Hum Genet2021
32356556De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.Hum Mol Genet2020
32107324Clinical Reasoning: A 42-year-old woman with progressive cognitive difficulties and gait imbalance.Neurology2020
33390987Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.Front Pharmacol2020
33150406KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain2020
32693025De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.Am J Hum Genet2020
32713002A retrospective study of adult patients with noncirrhotic hyperammonemia.J Inherit Metab Dis2020
30670880Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
31585109De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.Am J Hum Genet2019
31347272Noncirrhotic hyperammonemia after deceased donor kidney transplantation: A case report.Am J Transplant2019
31478310Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.J Genet Couns2019
30287922Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
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
30131872An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.NPJ Genom Med2018
29986673The BabySeq project: implementing genomic sequencing in newborns.BMC Pediatr2018
28654958The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.Ann Intern Med2017
26884246Reclassification of genetic-based risk predictions as GWAS data accumulate.Genome Med2016
26646800Hepatocyte Nuclear Factor 1α Mutation-associated MODY-3 and Familial Liver Adenomatosis.J Clin Gastroenterol2016
27757064Genomic sequencing in clinical practice: applications, challenges, and opportunities.Dialogues Clin Neurosci2016
27302097Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.Am J Med Genet A2016
25341114Summarizing polygenic risks for complex diseases in a clinical whole-genome report.Genet Med2015
26439717Management of Incidental Findings in Clinical Genomic Sequencing.Curr Protoc Hum Genet2015
26295439The Matchmaker Exchange: a platform for rare disease gene discovery.Hum Mutat2015
26207772The Clinical Significance of Initial Pulmonary Micronodules in Young Sarcoma Patients.J Pediatr Hematol Oncol2015
24645908The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.Trials2014
25714468A systematic approach to the reporting of medically relevant findings from whole genome sequencing.BMC Med Genet2014
23595601Management of incidental findings in clinical genomic sequencing.Curr Protoc Hum Genet2013
15819284Diagnostic yield and utility of neurovascular ultrasonography in the evaluation of patients with syncope.Mayo Clin Proc2005
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Collaborators

Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 14
The Broad Institute of MIT and Harvard
Co-authored papers 10
Harvard Medical School, Harvard Pilgrim Health Care Institute
Co-authored papers 7
Baylor College of Medicine.
Co-authored papers 5
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Co-authored papers 5
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Co-authored papers 4
University of Washington School of Medicine
Co-authored papers 4
Brigham and Women's Hospital (Y.K.
Co-authored papers 3
Harvard Medical School
Co-authored papers 3
Department of Medicine Brigham and Women's Hospital and Harvard Medical School
Co-authored papers 3
Broad Institute of Harvard and MIT
Co-authored papers 3
Harvard Medical School
Co-authored papers 3
Yale School of Medicine
Co-authored papers 3
Broad Institute of Massachusetts Institute of Technology and Harvard
Co-authored papers 2
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Co-authored papers 2
University of Washington Medical Center
Co-authored papers 2
Baylor College of Medicine, TX Jan and Dan Duncan Neurological Research Institute
Co-authored papers 2
Harvard Medical School
Co-authored papers 2
HudsonAlpha Institute for Biotechnology
Co-authored papers 2
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Co-authored papers 2
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Co-authored papers 2
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Center for Precision Health Research, National Human Genome Research Institute
Co-authored papers 2
University of Washington Medical Center
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Washington University School of Medicine
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Children's Hospital of Philadelphia, University of Pennsylvania
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Children's Hospital of Philadelphia
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Boston Children's Hospital
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