F. Xia

F. Xia, C. Eng, P. Benn, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

R. W. Huff, J. Wiszniewska, E. Roeder, 2022, Journal of Medical Genetics.

PSTPIP1‐associated myeloid‐related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia

F. Xia, A. Bertuch, W. Bi, 2018, Pediatric blood & cancer.

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations

Denise L. Perry, J. Rosenfeld, A. Reymond, 2018, Human mutation.

POGZ truncating alleles cause syndromic intellectual disability

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Lisa T. Emrick, Michael F. Wangler, J. Rosenfeld, 2019, Nature Communications.

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.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Donna M. Muzny, Yan Ding, Eric Boerwinkle, 2017, The New England journal of medicine.

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

S. Lalani, F. Xia, J. Giltay, 2019, European Journal of Human Genetics.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Michael F. Wangler, J. Rosenfeld, H. Bellen, 2017, American journal of human genetics.

POGZ truncating alleles cause syndromic intellectual disability

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Michael F. Wangler, E. Zackai, J. Lupski, 2014, American journal of human genetics.

Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism

B. Peters, R. Drmanac, A. Beaudet, 2013, Nature Genetics.

Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records

Yiqing Zhao, C. Weng, F. Xia, 2016, PloS one.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, PLoS genetics.

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Mahshid S. Azamian, S. Cheung, S. Lalani, 2017, PloS one.

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

Yaping Yang, F. Xia, C. Eng, 2018, American journal of medical genetics. Part A.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Mahshid S. Azamian, Magalie S Leduc, J. Rosenfeld, 2015, American journal of human genetics.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, A. Breman, Ankita Patel, 2019, Genome Medicine.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A. Breman, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

The phenotypic spectrum of Xia‐Gibbs syndrome

David R. Murdock, Michael M. Khayat, Michael F. Wangler, 2018, American journal of medical genetics. Part A.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Mahshid S. Azamian, Magalie S Leduc, B. Coe, 2016, American journal of human genetics.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Mahshid S. Azamian, J. Rosenfeld, J. Gécz, 2019, Science Advances.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Ankita Patel, J. Lupski, R. Gibbs, 2015 .

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, American journal of human genetics.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

J. Rosenfeld, E. Roeder, F. Xia, 2017, American journal of human genetics.

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

J. Lupski, R. Gibbs, E. Boerwinkle, 2016, Nature Communications.

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

Yaping Yang, F. Xia, M. Leduc, 2021, Molecular genetics & genomic medicine.

Asprosin, a Fasting-Induced Glucogenic Protein Hormone

David A. Rendon, J. Coselli, S. Lemaire, 2016, Cell.

Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

J. Rosenfeld, E. Roeder, F. Xia, 2016, Human mutation.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Yanming Feng, Fan Xia, Tomasz Gambin, 2019, Genome Medicine.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

A. Beaudet, D. Muzny, Yaping Yang, 2017, Genetics in Medicine.

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies

Shuyang Zhang, F. Xia, L. Cui, 2019, Human mutation.

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

R. Gibbs, D. Muzny, Yaping Yang, 2018, Genome Medicine.

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Michael M. Khayat, Magalie S Leduc, J. Rosenfeld, 2018, bioRxiv.

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, BMC Medical Genomics.

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

Michael F. Wangler, A. Moser, F. Xia, 2015, Molecular genetics and metabolism reports.

Characterization of the renal phenotype in RMND1‐related mitochondrial disease

J. Rosenfeld, Yaping Yang, F. Xia, 2019, Molecular genetics & genomic medicine.

Reanalysis of Clinical Exome Sequencing Data.

J. Rosenfeld, E. Zackai, C. Shaw, 2019, The New England journal of medicine.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

S. Antonarakis, J. Hunter, Yaping Yang, 2018, Human mutation.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

C. Shaw, S. Cheung, T. Bohan, 2015, Orphanet Journal of Rare Diseases.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

D. Baralle, R. Bernier, F. Alkuraya, 2019, Human molecular genetics.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

J. Rosenfeld, M. Shaw, J. Gécz, 2017, American journal of human genetics.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

J. Rosenfeld, Cheol‐Hee Kim, O. Hummel, 2019, Molecular Autism.

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Yanming Feng, Fan Xia, Shashikant Kulkarni, 2019, Nature Medicine.

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

R. Gibbs, D. Muzny, Yaping Yang, 2018, Genome Medicine.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Colin A. Johnson, J. Rosenfeld, A. Bateman, 2017, American journal of human genetics.

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO

Mahshid S. Azamian, J. Rosenfeld, A. Breman, 2016, Journal of Medical Genetics.

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, American journal of human genetics.

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

J. Rosenfeld, S. Lalani, V. Chau, 2021, Clinical genetics.

Heterozygous variants in SPTBN1 cause intellectual disability and autism

J. Rosenfeld, Yaping Yang, F. Xia, 2021, American journal of medical genetics. Part A.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

D. Baralle, R. Bernier, F. Alkuraya, 2020, Human molecular genetics.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

P. Stankiewicz, C. Shaw, Yaping Yang, 2019, Genome Medicine.

The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.

W. Chung, Yaping Yang, F. Xia, 2014, JIMD reports.

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

Magalie S Leduc, J. Rosenfeld, R. Schiffmann, 2016, PLoS genetics.

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, BMC Medical Genomics.

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

Undiagnosed Diseases Network, J. Rosenfeld, P. Striano, 2022, The Cerebellum.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Michael F. Wangler, H. Bellen, F. Xia, 2016, Human molecular genetics.

Olfaction Modulates Reproductive Plasticity through Neuroendocrine Signaling in Caenorhabditis elegans

F. Xia, Meng C. Wang, J. Sowa, 2015, Current Biology.

Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy

Yaping Yang, F. Xia, Z. Niu, 2017, American journal of medical genetics. Part A.

Evaluation of an Automated Genome Interpretation Model for Rare Disease Routinely Used in a Clinical Genetic Lab.

F. Xia, C. Eng, Ido Machol, 2023, Genetics in Medicine.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, Ankita Patel, C. Shaw, 2019, Genome Medicine.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

J. Rosenfeld, J. Lupski, S. Lalani, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Michael F. Wangler, J. Rosenfeld, H. Bellen, 2017, American Journal of Human Genetics.

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

A. Beaudet, Yaping Yang, F. Xia, 2017, Genetics in Medicine.