J. Johnston

发表

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

H. Hakonarson, S. South, J. Opitz, 2011, American journal of human genetics.

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Dona M. Kanavy, Shannon M. McNulty, Tamara S. Roman, 2020, American journal of human genetics.

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

S. Puig, S. Chanock, Jia Liu, 2018, Genome Medicine.

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Larry N. Singh, J. Mullikin, W. Rubinstein, 2012, American journal of human genetics.

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

R. Chadwick, A. Busch, M. Vawter, 2014, Journal of Medical Genetics.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

Linzhao Cheng, Xuan Yuan, Leslie G. Biesecker, 2012, American journal of human genetics.

Determining the prevalence of McArdle disease from gene frequency by analysis of next generation sequencing data

L. Biesecker, J. Johnston, Mauricio De Castro, 2015, Genetics in Medicine.

Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting

Jamie K Teer, Leslie G Biesecker, James C Mullikin, 2013, BMC Genomics.

Gonadal mosaicism in severe Pallister–Hall syndrome (Am J Med Genet 124A: 296–302 (2004)

L. Biesecker, W. Theodore, J. Johnston, 2005 .

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

Jamie K Teer, Leslie G Biesecker, James C Mullikin, 2010, American journal of human genetics.

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

John E. Cockerham, L. Biesecker, J. Johnston, 2008, BMC Medical Genetics.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Julie C. Sapp, J. Rosenfeld, E. Zackai, 2017, Genetics in Medicine.

Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Classifications in Malignant Hyperthermia Susceptibility

R. Saxena, L. Biesecker, J. Johnston, 2020, Genetics in Medicine.

Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance

L. Biesecker, J. Graham, C. Brownstein, 2015, American journal of medical genetics. Part A.

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Larry N. Singh, J. Mullikin, H. Kong, 2015, American journal of human genetics.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

Chanjae Lee, Leslie G. Biesecker, John B. Wallingford, 2017, Cold Spring Harbor molecular case studies.

Long‐term survival in TARP syndrome and confirmation of RBM10 as the disease‐causing gene

L. Biesecker, J. Johnston, K. Gripp, 2011, American journal of medical genetics. Part A.

Suppurative complications of acute hematogenous osteomyelitis in children

J. Johnston, C. Murray-Krezan, W. Dehority, 2017, Journal of pediatric orthopedics. Part B.

Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial

L. Biesecker, J. Johnston, B. Biesecker, 2018, JAMA internal medicine.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial.

L. Biesecker, J. Johnston, B. Biesecker, 2018, American journal of human genetics.

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening

Celine S. Hong, Larry N. Singh, J. Mullikin, 2016, Genetics in Medicine.

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

V. Sheffield, L. Biesecker, E. Stone, 2010, Genetics in Medicine.

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

L. Biesecker, A. Nordgren, J. Johnston, 2007, Human molecular genetics.

Updated Variant Curation Expert Panel Criteria and Pathogenicity Classifications for 251 Variants for RYR1-related Malignant Hyperthermia Susceptibility

L. Biesecker, J. Johnston, R. Robinson, 2022, bioRxiv.

Case reports of oculofaciocardiodental syndrome with unusual dental findings

J. Johnston, A. Slavotinek, K. Vargervik, 2005 .

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

Non–Type b Haemophilus influenzae Septic Arthritis in Children

J. Johnston, J. Eldredge, W. Dehority, 2016, Journal of the Pediatric Infectious Diseases Society.

Disclosure of cardiac variants of uncertain significance results in an exome cohort

W. Klein, L. Biesecker, J. Johnston, 2018, Clinical genetics.

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

L. Biesecker, J. Johnston, W. Simonds, 2016, American journal of human genetics.

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

A A Schäffer, D H Morton, R. Agarwala, 2000, American journal of human genetics.

Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

Robert C. Green, Michael O. Dorschner, Matthew S. Lebo, 2016 .

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation

J. Johnston, R. Schnur, L. Wong, 2004, Journal of Inherited Metabolic Disease.

Using Exome Data to Identify Malignant Hyperthermia

J. Mullikin, P. Stenson, D. Cooper, 2013 .

A commentary on Actionable secondary findings in the 73 ACMG-recommended genes in 1,559 Thai exomes

L. Biesecker, J. Johnston, Seeley J. Yoo, 2021, Journal of human genetics.

Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

J. Mullikin, P. Stenson, D. Cooper, 2013, Anesthesiology.

Interpreting Secondary Cardiac Disease Variants in an Exome Cohort

Larry N. Singh, J. Mullikin, P. Stenson, 2013, Circulation. Cardiovascular genetics.

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

Jeffrey N. Dudley, L. Biesecker, J. Johnston, 2020, HGG advances.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Jamie K Teer, Shlomo Wientroub, Leslie G Biesecker, 2011, The New England journal of medicine.

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Jeffrey N. Dudley, R. Holt, A. Schäffer, 2019, Journal of Medical Genetics.

Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl

L. Biesecker, J. Johnston, Yong-hui Jiang, 2009, American journal of medical genetics. Part A.

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

Julie C. Sapp, L. Biesecker, J. Johnston, 2021, Ophthalmic genetics.

Gonadal mosaicism in severe Pallister–Hall syndrome

L. Biesecker, W. Theodore, J. Johnston, 2004, American journal of medical genetics. Part A.

Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

L. Biesecker, J. Johnston, J. Yanovski, 2011, The Journal of clinical endocrinology and metabolism.

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

Julie C. Sapp, L. Biesecker, J. Johnston, 2015, American journal of human genetics.

Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders

Leslie G. Biesecker, Douglas R. Stewart, Meredith Yeager, 2014, PloS one.

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

Leslie G. Biesecker, Marjan Huizing, William L. Nyhan, 2011, Nature genetics.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

L. Biesecker, J. Johnston, L. Bird, 2003, American journal of medical genetics. Part A.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism

E. Zackai, L. Biesecker, J. Johnston, 2014, American journal of medical genetics. Part A.

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

J. Ellison, P. Meltzer, S. Davis, 2006, Journal of Medical Genetics.

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer

D. Cooper, L. Biesecker, J. Johnston, 2003, Human Genetics.

Renal abnormalities and an altered inflammatory response in mice lacking cyclooxygenase II

J. Johnston, B. Jaffee, B. Car, 1995, Nature.

The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1

J. Johnston, Joie Davis, A. Griffith, 2003, Genetics in Medicine.

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.

F. McMahon, J. Mullikin, T. Manolio, 2018, American journal of human genetics.

Health Behaviors Amongst Unaffected Participants Following Receipt of Variants of Uncertain Significance in Cardiomyopathy-Associated Genes

L. Biesecker, J. Johnston, B. Biesecker, 2018, Genetics in Medicine.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2018, Genetics in Medicine.

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency

Mark Yandell, Jinchuan Xing, Leslie G Biesecker, 2011, Genome Biology.

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

Julie C. Sapp, L. Biesecker, J. Graham, 2015, Human Genome Variation.

A commentary on actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes

L. Biesecker, J. Johnston, Seeley J. Yoo, 2022, Journal of Human Genetics.

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

L. Biesecker, J. Johnston, O. Bruland, 2018, American journal of human genetics.

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2019, Genetics in Medicine.

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

P. Nopoulos, L. Biesecker, J. Johnston, 2011, BMC Medical Genetics.

Cognitive, sensory, and psychosocial characteristics in patients with Bardet–Biedl syndrome

Julie C. Sapp, L. Biesecker, J. Johnston, 2013, American journal of medical genetics. Part A.

Functional Analysis of a De Novo ACTB Mutation in a Patient with Atypical Baraitser–Winter Syndrome

Julie C. Sapp, L. Biesecker, J. Johnston, 2013, Human Mutation.

Proposed diagnostic criteria for Stickler syndrome

J. Johnston, Joie Davis, A. Griffith, 2000 .

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

Michael T. Zimmermann, Jeffrey N. Dudley, V. Magrini, 2021, Genetics in Medicine.

A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness

L. Biesecker, J. Johnston, A. Griffith, 2016, European Journal of Human Genetics.

Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

Celine S. Hong, Leslie G. Biesecker, Jeffrey N. Dudley, 2021, BMC Bioinformatics.

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

L. Biesecker, J. Johnston, T. Bardakjian, 2009, BMC Medical Genetics.

Case reports of oculofaciocardiodental syndrome with unusual dental findings (Am J Med Genet 136A: 275–277, 2005)

J. Johnston, A. Slavotinek, K. Vargervik, 2005, American journal of medical genetics. Part A.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

J. Rosenfeld, E. Zackai, A. Pagnamenta, 2017, Genetics in Medicine.

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

S. Puig, S. Chanock, M. Greene, 2018, Genome Medicine.

Immune cell residency in the nasal mucosa and COVID-19 severity across the age range

T. Pastinen, J. Johnston, E. Grundberg, 2021, medRxiv.

Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study

Jennifer M. Taber, W. Klein, L. Biesecker, 2017, Genetics in Medicine.

Databases of genomic variation and phenotypes: existing resources and future needs.

Leslie G Biesecker, L. Biesecker, J. Johnston, 2013, Human molecular genetics.

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2019, Genetics in Medicine.

Co‐occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager

J. Johnston, Christopher A. Ours, I. Scurr, 2023, American journal of medical genetics. Part A.

Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

Jeffrey N. Dudley, Marwan A. Hawari, L. Biesecker, 2021, BMC Bioinform..

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

J. Johnston, V. Funanage, R. Kelley, 1997, American journal of human genetics.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Julie C. Sapp, J. Mullikin, S. Wientroub, 2011, The New England journal of medicine.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, K. Goddard, L. Hindorff, 2018, Genetics in Medicine.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

Nontyphoidal Salmonella Osteomyelitis in Immunocompetent Children Without Hemoglobinopathies: A Case Series and Systematic Review of the Literature.

J. Johnston, J. Eldredge, W. Dehority, 2017, The Pediatric infectious disease journal.

Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

Julie C. Sapp, L. Biesecker, J. Johnston, 2011, The Journal of clinical endocrinology and metabolism.