Julie R. Jones

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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Denise L. Perry, J. Rosenfeld, R. Taft, 2018, American journal of human genetics.

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

Julie R. Jones, Allyn McConkie-Rosell, Wendy K. Chung, 2016, Cold Spring Harbor molecular case studies.

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

E. Alexov, M. Friez, Yunhui Peng, 2019, Journal of Human Genetics.

Aminoglycoside suppression of a premature stop mutation in a Cftr–/– mouse carrying a human CFTR-G542X transgene

M. Evans, J. Whitsett, W. Colledge, 2002, Journal of Molecular 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.

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

J. Rosenfeld, R. Pfundt, E. Eichler, 2020, Human mutation.

Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.

F. Fusco, M. Miano, A. Conti, 2011, Human reproduction.

Creatine transporter defect masquerading as Lujan Syndrome

R. Stevenson, A. Paepe, J. Leroy, 2019 .

Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii

R. Stevenson, S. Robboy, J. Chou, 2019, Cytogenetic and Genome Research.

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features

M. Lyons, M. Friez, Joshua A. Smith, 2016, American journal of medical genetics. Part A.

Forkhead box C1 gene variant causing glaucoma and small vessel angiopathy can mimic multiple sclerosis.

Julie R. Jones, J. Avasarala, C. Rogers, 2018, Multiple sclerosis and related disorders.

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia

P. Giampietro, C. Seroogy, Julie R. Jones, 2013, American journal of medical genetics. Part A.

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound

Q. K. Tan, R. Stevenson, S. B. Wechsler, 2017, American journal of medical genetics. Part A.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

M. Tarnopolsky, K. Boycott, B. Kamien, 2017, Orphanet Journal of Rare Diseases.

Genotype and Phenotype in 12 additional individuals with SATB 2-Associated Syndrome

E. Zackai, J. Fish, R. Person, 2017 .

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

B. Korf, D. Lessel, P. Nürnberg, 2020, Human Genetics.

Lessons from a pair of siblings with BPAN

G. B. Schaefer, Melanie A. Jones, J. Juusola, 2016, European Journal of Human Genetics.

Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1.

M. Friez, N. Marlowe, Julie R. Jones, 2012, Genetic testing and molecular biomarkers.

Strategies for the use of site-specific recombinases in genome engineering.

M. Magnuson, Julie R. Jones, K. Shelton, 2005, Methods in molecular medicine.

Efficient DNA cassette exchange in mouse embryonic stem cells by staggered positive‐negative selection

M. Magnuson, J. Lindner, Julie R. Jones, 2004, Genesis.

Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.

A. Pandey, A. Madugundu, M. Friez, 2020, Molecular genetics and metabolism.

Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome

S. Skinner, R. Louie, M. Friez, 2022, American journal of medical genetics. Part A.

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

M. Stratton, P. Futreal, S. Edkins, 2007, Journal of Medical Genetics.

The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function

B. V. van Bon, S. Kushner, S. Küry, 2018, Human mutation.

Epithelial P 2 X purinergic receptor channel expression and function

E. Schwiebert, E. Sorscher, Amanda L. Taylor, 1999 .

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

Classic phenotype of Coffin–lowry syndrome in a female with stimulus‐induced drop episodes and a genotype with preserved N‐terminal kinase domain

K. Rojnueangnit, N. Robin, Julie R. Jones, 2014, American journal of medical genetics. Part A.

A previously unreported mutation in a Currarino syndrome kindred

J. Graham, M. Friez, R. C. Rogers, 2006, American journal of medical genetics. Part A.

A Neurodevelopmental Disorder Caused by Mutations in the VPS51 Subunit of the GARP and EARP Complexes

J. Bonifacino, D. Everman, Julie R. Jones, 2018, bioRxiv.

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

Hyung-Goo Kim, W. Wenzel, C. Kim, 2016, Genes.

CHD8 intragenic deletion associated with autism spectrum disorder.

Brooke T. Smith, A. Chaubey, Julie R. Jones, 2016, European journal of medical genetics.

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

R. Stevenson, M. Lyons, J. Mandel, 2015, European Journal of Human Genetics.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

Generation and functional confirmation of a conditional null PPARγ allele in mice

M. Magnuson, M. Breyer, Y. Guan, 2002 .

Deletion of PPARγ in adipose tissues of mice protects against high fat diet-induced obesity and insulin resistance

R. Kesterson, M. Magnuson, B. Kahn, 2005, Proceedings of the National Academy of Sciences of the United States of America.

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

Yiping Shen, Hyung-Goo Kim, J. D. Labonne, 2016, BMC Neurology.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

R. Hochstenbach, Q. Waisfisz, R. Person, 2019, American journal of medical genetics. Part A.

gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel

M. Stratton, S. Edkins, J. Teague, 2008 .

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

J. Opitz, R. Stevenson, C. Schwartz, 2007, Nature Genetics.

Structural model of PORCN illuminates disease-associated variants and drug binding sites.

D. Virshup, T. Keller, D. Everman, 2021, Journal of cell science.

Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

R. Stevenson, C. Schwartz, P. Giampietro, 2006, Pediatrics.

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

S. Scherer, J. Vincent, M. Friez, 2004, Nature Genetics.

Hypothesis: Dysregulation of methylation of brain‐expressed genes on the X chromosome and autism spectrum disorders

C. Skinner, R. Stevenson, C. Schwartz, 2008, American journal of medical genetics. Part A.

Research Review Hypothesis: Dysregulation of Methylation of Brain- Expressed Genes on the X Chromosome and Autism Spectrum Disorders

C. Skinner, R. Stevenson, C. Schwartz, 2008 .

Redefining the Etiologic Landscape of Cerebellar Malformations.

I. Krantz, D. Nickerson, G. Seelig, 2019, American journal of human genetics.

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

C. Skinner, R. Stevenson, Lei Cao, 2018, Biology.

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations

Julie R. Jones, T. Wood, L. Pollard, 2013, Journal of Inherited Metabolic Disease.

Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.

Hyung-Goo Kim, W. Wenzel, J. D. Labonne, 2016, Gene.

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

E. Alexov, M. Friez, Yunhui Peng, 2019, Journal of Human Genetics.

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.

K. Devriendt, J. Vermeesch, M. Bollen, 2020, American journal of human genetics.

Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson–Golabi–Behmel Syndrome: Expansion of the Clinical Spectrum

Julie R. Jones, U. Tantravahi, L. Young, 2019, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1

H. Bassan, Philippe M. Campeau, G. Zanni, 2021, Neurology: Genetics.

Structural model of PORCN illuminates disease-associated variants and drug binding sites

D. Virshup, T. Keller, D. Everman, 2021, bioRxiv.

The historical Coffin–Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients

Hyung-Goo Kim, L. Layman, Kyungsoo Ha, 2014, American journal of medical genetics. Part A.

RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy

Julie R. Jones, E. Stolerman, Xiangwen Chen-Deutsch, 2023, Clinical case reports.

Deletion of PPARgamma in adipose tissues of mice protects against high fat diet-induced obesity and insulin resistance.

R. Kesterson, M. Magnuson, B. Kahn, 2005, Proceedings of the National Academy of Sciences of the United States of America.

An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

A. Breman, C. Schwartz, B. Graham, 2019, American journal of medical genetics. Part A.

Transgenerational Inheritance of Familial Lipomyelomeningocele

M. Lyons, Jennifer A. Lee, Julie R. Jones, 2017, Journal of child neurology.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

R. Redon, V. Narayanan, A. Toutain, 2022, Human molecular genetics.

Filling in the gaps on FILS syndrome: A case report and literature review

E. Prijoles, Julie R. Jones, L. Wine Lee, 2020, Pediatric dermatology.

Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation

Julie R. Jones, Y. Zarate, J. Jones, 2012, Molecular Syndromology.

The historical Coffin–Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients

Hyung-Goo Kim, L. Layman, Kyungsoo Ha, 2014, American journal of medical genetics. Part A.

Nonrandom X Chromosome Inactivation Detection

Julie R. Jones, 2014, Current protocols in human genetics.

Functional Assessment of Homozygous ALDH18A1 Variants Reveals Alterations in Amino Acid and Antioxidant Metabolism.

C. Skinner, A. Edison, S. Srikanth, 2022, Human molecular genetics.