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Author Details

John A Phillips
Vanderbilt University Medical Center
1974
293
72
PMIDPaper TitleJournal TitlePublished Year
36797380Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.Hum Genet2023
37622199A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.Am J Med Genet A2023
37246601The contribution of mosaicism to genetic diseases and de novo pathogenic variants.Am J Med Genet A2023
36797380Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.Hum Genet2023
36984839A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male.Metabolites2023
37622199A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.Am J Med Genet A2023
36984839A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male.Metabolites2023
37246601The contribution of mosaicism to genetic diseases and de novo pathogenic variants.Am J Med Genet A2023
34837063International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.Nat Rev Endocrinol2022
35974248Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.Nat Metab2022
35362483Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.J Clin Invest2022
36317458A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.Hum Mutat2022
34967985Efficacy of virtual and asynchronous teaching of computer-assisted diagnosis of genetic diseases seen in clinics.Am J Med Genet A2022
34837063International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.Nat Rev Endocrinol2022
35362483Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.J Clin Invest2022
36317458A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.Hum Mutat2022
35974248Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.Nat Metab2022
34967985Efficacy of virtual and asynchronous teaching of computer-assisted diagnosis of genetic diseases seen in clinics.Am J Med Genet A2022
33469725Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.Hum Genet2021
34294923Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.Nat Metab2021
33469725Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.Hum Genet2021
33947782Familial Autonomic Ganglionopathy Caused by Rare <i>CHRNA3</i> Genetic Variants.Neurology2021
33833463Mitochondrial NADP<sup>+</sup> is essential for proline biosynthesis during cell growth.Nat Metab2021
33415784Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.Am J Med Genet A2021
34529933Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.Am J Hum Genet2021
34930956Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in Achondroplasia.Sci Rep2021
33833463Mitochondrial NADP<sup>+</sup> is essential for proline biosynthesis during cell growth.Nat Metab2021
34930956Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in Achondroplasia.Sci Rep2021
34529933Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.Am J Hum Genet2021
34294923Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.Nat Metab2021
33947782Familial Autonomic Ganglionopathy Caused by Rare <i>CHRNA3</i> Genetic Variants.Neurology2021
33415784Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.Am J Med Genet A2021
32190976Limitations of exome sequencing in detecting rare and undiagnosed diseases.Am J Med Genet A2020
32190976Limitations of exome sequencing in detecting rare and undiagnosed diseases.Am J Med Genet A2020
32011901Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung Disease.Am J Respir Crit Care Med2020
31949312Defining the clinical phenotype of Saul-Wilson syndrome.Genet Med2020
32730690Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.Mol Genet Genomic Med2020
31949312Defining the clinical phenotype of Saul-Wilson syndrome.Genet Med2020
32011901Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung Disease.Am J Respir Crit Care Med2020
32730690Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.Mol Genet Genomic Med2020
30639323Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.Am J Hum Genet2019
30639323Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.Am J Hum Genet2019
31478310Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.J Genet Couns2019
31020813Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.Mol Genet Genomic Med2019
30993913IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.Mol Genet Genomic Med2019
31478310Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.J Genet Couns2019
30993913IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.Mol Genet Genomic Med2019
31020813Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.Mol Genet Genomic Med2019
29341437Phenotypic heterogeneity of ZMPSTE24 deficiency.Am J Med Genet A2018
30304647Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.N Engl J Med2018
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Collaborators

Rizwan Hamid
Vanderbilt University Medical Center
Co-authored papers 27
Cindy L Vnencak-Jones
Vanderbilt University Medical Center
Co-authored papers 15
Vickie Hannig
Vanderbilt University Medical Center
Co-authored papers 11
Eric D Austin
Vanderbilt University Medical Center
Co-authored papers 11
Stylianos E Antonarakis
Co-authored papers 9
Jean P Pfotenhauer
Vanderbilt University Medical Center
Co-authored papers 7
Alan F Scott
Johns Hopkins University School of Medicine
Co-authored papers 7
Robert A Parker
Massachusetts General Hospital
Co-authored papers 6
Preston W Campbell
Vanderbilt University School of Medicine, USA Vanderbilt Center for Bone Biology
Co-authored papers 6
David Robertson
Vanderbilt University Medical Center
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David A Schwartz
Co-authored papers 5
Corinne Boehm
Johns Hopkins University School of Medicine
Co-authored papers 5
Scott M Williams
Case Western Reserve University School of Medicine
Co-authored papers 5
John A Capra
Bakar Computational Health Sciences Institute, University of California san francisco
Co-authored papers 5
Tatiana Foroud
Indiana University School of Medicine
Co-authored papers 4
Richard C Trembath
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Aravinda Chakravarti
New York University Grossman School of Medicine
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David N Cooper
Institute of Medical Genetics, Cardiff University
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Ellen Macnamara
Co-authored papers 4
Jens Meiler
Vanderbilt University
Co-authored papers 4
George E Tiller
Co-authored papers 3
William A Gahl
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Elly Brokamp
Vanderbilt Genetics Institute, Vanderbilt University Medical Center
Co-authored papers 3
David R Adams
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Deborah A Meyers
Co-authored papers 3
Iekuni Ichikawa
Shinshu University
Co-authored papers 3
Kelly Schoch
Duke University School of Medicine
Co-authored papers 3
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 3
Vandana Shashi
Duke University School of Medicine
Co-authored papers 3
Michael B Bober
Co-authored papers 3
Release 1.2