C. Gonzaga‐Jauregui

发表

Genome-wide approaches and technologies to assess human variation

C. Gonzaga‐Jauregui, 2013 .

A novel heterozygous loss‐of‐function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature

A. Kurolap, A. Mory, L. Sagi‐Dain, 2019, American journal of medical genetics. Part A.

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Marylyn D. Ritchie, Scott Mellis, Alan R. Shuldiner, 2016, Science.

J. Deelen, A. Shuldiner, N. Barzilai, 2020, Aging cell.

Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity

W. Chung, J. Lupski, R. Gibbs, 2020, bioRxiv.

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Tam P. Sneddon, Andrew R. Grant, C. Betancur, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Mark S. Anderson, Christopher S. Law, J. Lupski, 2015, Nature Genetics.

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.

Andrew J. Oler, S. Choo, S. Tangye, 2020, Blood.

Inhibition of Angiopoietin-Like Protein 3 With Evinacumab in Subjects With High and Severe Hypertriglyceridemia.

D. Gaudet, D. Rader, Shazia Ali, 2021, Journal of the American College of Cardiology.

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults

W. Chung, Yufeng Shen, F. Dewey, 2018, Circulation. Genomic and precision medicine.

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency

A. Shuldiner, N. Orenstein, K. Wimmer, 2019, Journal of Medical Genetics.

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

J. Lupski, S. Batish, C. Towne, 2010, Neurogenetics.

A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly

N. Ekhilevitch, A. Kurolap, L. Sagi‐Dain, 2021, American journal of medical genetics. Part A.

Inverted Low‐Copy Repeats and Genome Instability—A Genome‐Wide Analysis

Anna Gambin, Piotr Dittwald, Tomasz Gambin, 2013, Human mutation.

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype

A. Shuldiner, Y. Goldberg, A. Kurolap, 2019, Journal of Medical Genetics.

NPRL3: Direct Effects on Human Phenotypic Variability, mTOR Signaling, Subcellular mTOR Localization, Cortical Lamination, and Seizure Susceptibility

E. Puffenberger, M. Baybis, P. Crino, 2020, bioRxiv.

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Alexander E. Lopez, Alexander Hanbo Li, Andrew L Blumenfeld, 2020, Nature.

Human genome sequencing in health and disease.

J. Lupski, R. Gibbs, C. Gonzaga-Jauregui, 2012, Annual review of medicine.

The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study

A. Shuldiner, N. Orenstein, L. Basel-Salmon, 2022, Prenatal diagnosis.

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

M. Yoder, E. Puffenberger, K. Strauss, 2018, Human molecular genetics.

Addressing underrepresentation in genomics research through community engagement.

A. Lemke, K. Brothers, N. Hanchard, 2022, American journal of human genetics.

Addressing the challenges of polygenic scores in human genetic research.

S. Tishkoff, J. Novembre, A. Lemke, 2022, American journal of human genetics.

Biallelic truncating variants in the muscular A‐type lamin‐interacting protein (MLIP) gene cause myopathy with hyperCKemia

A. Shuldiner, B. Mitchell, T. Pollin, 2021, European journal of neurology.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

C. Mathew, M. Simpson, N. Mailand, 2022, Nature Communications.

Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

J. B. Oliveira, R. Giugliani, I. Zarante, 2022, Frontiers in Genetics.

Integrating common and rare genetic variation in diverse human populations

Sharon R Grossman, Pardis C Sabeti, P. Deloukas, 2010, Nature.

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, J. Lupski, R. Gibbs, 2014, PLoS genetics.

A de novo paradigm for male infertility

L. Vissers, S. Cockell, J. Veltman, 2021, bioRxiv.

Mucus sialylation determines intestinal host-commensal homeostasis

A. Griffiths, N. Warner, C. Bertozzi, 2022, Cell.

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

H. Mandel, A. Shuldiner, J. Overton, 2019, Journal of Human Genetics.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, Cell reports.

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

Gonçalo Abecasis, Alan R. Shuldiner, Jeffrey Staples, 2019, bioRxiv.

A Machine Learning Approach to Identifying Causal Monogenic Variants in Inflammatory Bowel Disease

Arun K. Ramani, A. Griffiths, N. Warner, 2022, Gastro Hep Advances.

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated with Monogenic Variants, Identified by Whole-exome Sequencing in 1000 Children at a Single Center.

Andrei L. Turinsky, Arun K. Ramani, A. Paterson, 2020, Gastroenterology.

Whole-Genome Sequencing for Optimized Patient Management

David R. Murdock, J. Lupski, R. Gibbs, 2011, Science Translational Medicine.

Bainbridge Whole-Genome Sequencing for Optimized Patient Management

J. Lupski, R. Gibbs, D. Muzny, 2011 .

High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution

Yehudit Hasin, Tsviya Olender, Miriam Khen, 2008, PLoS genetics.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Ellen F. Macnamara, J. Lupski, E. Puffenberger, 2018, American journal of human genetics.

Dominant and sporadic de novo disorders

M. Chahrour, Maria H. Chahrour, C. Gonzaga‐Jauregui, 2021, Genomics of Rare Diseases.

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, The Journal of clinical investigation.

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

J. Lupski, R. Gibbs, E. Boerwinkle, 2014, Cell.

Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes

Alexander E. Lopez, Tanya M. Teslovich, D. Ledbetter, 2017, bioRxiv.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Klaudia Walter, M. Hurles, P. Stankiewicz, 2017, Cell.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

W. Chung, J. Lupski, R. Gibbs, 2015, Neuron.

Assessing structural variation in a personal genome—towards a human reference diploid genome

Caleb F. Davis, P. Stankiewicz, J. Lupski, 2015, BMC Genomics.

Global transcriptional disturbances underlie

Khalid Al Rubeaan, J. Lupski, R. Gibbs, 2018 .

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

Marylyn D. Ritchie, Alan R. Shuldiner, Jeffrey Staples, 2017, bioRxiv.

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

James T Lu, Richard A Gibbs, Philippe M Campeau, 2017, Cold Spring Harbor molecular case studies.

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Marylyn D. Ritchie, Alan R. Shuldiner, Laney K. Jones, 2016, Science.

Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

J. Lupski, R. Gibbs, D. Muzny, 2015, Molecular genetics & genomic medicine.

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

J. Lupski, R. Gibbs, D. Muzny, 2013, Genome Medicine.

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

P. Stankiewicz, J. Lupski, R. Gibbs, 2010, The New England journal of medicine.

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

J. Lupski, S. Cheung, F. Zhang, 2020, Human mutation.

Genomic disorders in the genomics era

C. Z. Mendoza, C. Gonzaga‐Jauregui, Cinthya J. Zepeda Mendoza, 2021, Genomics of Rare Diseases.

Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency

T. Chatila, H. Su, G. Baysoy, 2021, Allergy.

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant

A. Shuldiner, S. Snapper, J. Overton, 2019, Journal of Clinical Immunology.

Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort

O. Gottesman, A. Shuldiner, H. Kirchner, 2019, Diabetes.

Recurrent DNA inversion rearrangements in the human genome.

David Valle, Teresa Tusie-Luna, Delfino García, 2007 .

Genomic sequencing of rare diseases

C. Z. Mendoza, C. Gonzaga‐Jauregui, Cinthya J. Zepeda Mendoza, 2021, Genomics of Rare Diseases.

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Alexander E. Lopez, Andrew L Blumenfeld, J. Marchini, 2020, Nature.

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

H. Mandel, Ann Saada, J. Staples, 2020, Molecular genetics and metabolism reports.

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype

F. Glaser, A. Shuldiner, J. Overton, 2018, Journal of Medical Genetics.

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

M. Holtgrewe, C. Gonzaga-Jauregui, J. Overton, 2020, Bone.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

J. Lupski, R. Gibbs, E. Boerwinkle, 2014, American journal of medical genetics. Part A.

The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting

A. Shuldiner, N. Orenstein, L. Basel-Salmon, 2021, Prenatal diagnosis.

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

J. Lupski, S. Cheung, H. Zoghbi, 2011, Nature Genetics.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

J. Lupski, F. Baas, P. Liu, 2010, American journal of human genetics.

Genomic diagnostics within a medically underserved population: efficacy and implications

F. Dewey, E. Puffenberger, K. Strauss, 2017, Genetics in Medicine.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Challenges and opportunities in rare diseases research

C. Gonzaga‐Jauregui, 2021, Genomics of Rare Diseases.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Gunnar Houge, Stefan Johansson, Martin S. Taylor, 2014, American journal of human genetics.

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

J. Graham, Q. Waisfisz, D. Wieczorek, 2019, Brain : a journal of neurology.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.

J. Lupski, R. Gibbs, E. Boerwinkle, 2013, JAMA neurology.

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

W. Chung, Yufeng Shen, F. Dewey, 2018, Genome Medicine.

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension

Lisa J. Martin, Ferhaan Ahmad, W. Chung, 2019, Genome Medicine.

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension

Lisa J. Martin, Ferhaan Ahmad, W. Chung, 2019, Genome Medicine.

When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation

A. Shuldiner, N. Orenstein, Y. Goldberg, 2020, Genetics in Medicine.

When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation

A. Shuldiner, N. Orenstein, Y. Goldberg, 2020, Genetics in Medicine.

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

P. Stankiewicz, J. Lupski, R. Gibbs, 2010, New England Journal of Medicine.

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

J. Lupski, R. Gibbs, D. Muzny, 2015, Genetics in Medicine.

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Donna M. Muzny, Yuji Okamoto, Richard A. Gibbs, 2013, Genetics in Medicine.

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

I. Krantz, J. Lupski, D. Pehlivan, 2012, Genetics in Medicine.

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

A. Griffiths, N. Warner, O. Gottesman, 2021, Scientific Reports.

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

A. Griffiths, N. Warner, O. Gottesman, 2017, Scientific Reports.

The burden of pathogenic variants in clinically actionable genes in a founder population

Kristin A. Maloney, A. Shuldiner, B. Mitchell, 2021, American journal of medical genetics. Part A.

Identical repeated backbone of the human genome

M. Gutierrez-Arcelus, R. Palacios, C. Zepeda-Mendoza, 2010, BMC Genomics.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, B. D. de Vries, 2014, American journal of human genetics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

M. Lyons, R. Person, C. Ferreira, 2019, European Journal of Human Genetics.

The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders

A. Shuldiner, N. Orenstein, L. Basel-Salmon, 2021, Genetics in Medicine.

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Johnathon R. Walls, Marc S. Williams, J. Lupski, 2020, European Journal of Human Genetics.

Preface

C. Gonzaga‐Jauregui, James R. Lupski, 2021, Genomics of Rare Diseases.

The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease

C. Klein, N. Warner, S. Snapper, 2020, Scientific Reports.

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

W. Chung, J. Lupski, R. Gibbs, 2020, Human molecular genetics.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

W. Chung, E. Puffenberger, Z. Niu, 2021, American journal of human genetics.

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

J. Gécz, G. Ast, F. Glaser, 2022, American journal of human genetics.

Mutations in VRK 1 AssociatedWith ComplexMotor and Sensory Axonal Neuropathy PlusMicrocephaly

J. Lupski, R. Gibbs, E. Boerwinkle, 2013 .

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

H. Hakonarson, C. Siao, E. Puffenberger, 2017, American Journal of Human Genetics.

KCNQ1 and Long QT Syndrome in 1/45 Amish

Kristin A. Maloney, J. O’Connell, D. Roden, 2020, Circulation. Genomic and precision medicine.

Utilization of Whole Exome Sequencing Data to Identify Clinically Relevant Pharmacogenomic Variants in Pediatric Inflammatory Bowel Disease

Arun K. Ramani, A. Griffiths, N. Warner, 2020, Clinical and translational gastroenterology.

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

E. Puffenberger, K. Strauss, B. Wirth, 2020, The American Journal of Human Genetics.

Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial

D. Gaudet, D. Rader, C. Ballantyne, 2023, Nature Medicine.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

Two intronic cis‐acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia

N. Shomron, A. Shuldiner, Y. Goldberg, 2021, Clinical genetics.

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

H. Mandel, A. Shuldiner, J. Overton, 2019, Journal of Human Genetics.

Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia

J. Lupski, R. Gibbs, D. Muzny, 2014, Journal of pediatric gastroenterology and nutrition.

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

V. Scaria, D. Taruscio, V. Dissanayake, 2023, Frontiers in Public Health.

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

A. Shuldiner, N. Adir, A. Kurolap, 2020, Clinical dysmorphology.

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension

W. Chung, Yufeng Shen, F. Dewey, 2018, Circulation Genomic and Precision Medicine.

Homozygous IL37 mutation associated with infantile inflammatory bowel disease

Kenneth G. C. Smith, M. Lenardo, H. Su, 2021, Proceedings of the National Academy of Sciences.

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

J. Lupski, R. Gibbs, D. Muzny, 2014, European Journal of Human Genetics.

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

J. Lupski, V. Sutton, S. Penney, 2014, European journal of medical genetics.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

Exome-based investigation of the genetic basis of human pigmentary glaucoma

Adam P. DeLuca, Young H. Kwon, Michael G. Anderson, 2021, BMC Genomics.

KCNJ11 Mutation in One Family is Associated with Adult-Onset Rather than Neonatal-Onset Diabetes Mellitus

W. Chung, A. Shuldiner, J. Overton, 2018, AACE Clinical Case Reports.

Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening

N. Shomron, E. Friedman, A. Shuldiner, 2023, Genes.

Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature

C. Gonzaga-Jauregui, A. Shuldiner, N. Orenstein, 2021, American journal of medical genetics. Part A.

Validating gene-phenotype associations using relationships in the UMLS

Lukas Habegger, Suganthi Balasubramanian, Michael N Cantor, 2020, bioRxiv.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination, and seizure threshold.

E. Puffenberger, P. Crino, J. Babus, 2022, Brain : a journal of neurology.

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

W. Chung, Yufeng Shen, F. Dewey, 2018, Genome Medicine.

Integrating common and rare genetic variation in diverse human populations

Joshua M. Korn, Pardis C Sabeti, P. Deloukas, 2010, Nature.

Inverted Low‐Copy Repeats and Genome Instability—A Genome‐Wide Analysis

P. Stankiewicz, J. Lupski, C. Carvalho, 2013, Human mutation.

Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia

Y. Goldberg, L. Basel-Salmon, I. Lagovsky, 2023, Clinical genetics.

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Dustin N. Hartzel, D. Ledbetter, F. Dewey, 2016, Science.

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant

A. Shuldiner, S. Snapper, J. Overton, 2019, Journal of Clinical Immunology.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

W. Chung, J. Lupski, R. Gibbs, 2015, Neuron.

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, R. Gibbs, 2014, American journal of human genetics.

Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation

Nathan D. Olson, Karynne E. Patterson, Wayne E. Clarke, 2024, medRxiv.

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

J. Lupski, R. Gibbs, E. Boerwinkle, 2014, Cell.

Assessing structural variation in a personal genome—towards a human reference diploid genome

Caleb F. Davis, P. Stankiewicz, J. Lupski, 2015, BMC Genomics.

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.

J. Lupski, R. Gibbs, E. Boerwinkle, 2013, JAMA neurology.