Yaping Yang

发表

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Magalie S Leduc, J. Lupski, R. Gibbs, 2013, The New England journal of medicine.

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

Matthew N. Bainbridge, Christine M. Eng, Regis A. James, 2016, Genome Medicine.

Lessons learned from additional research analyses of unsolved clinical exome cases

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, Genome Medicine.

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, bioRxiv.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Molecular findings among patients referred for clinical whole-exome sequencing.

Magalie S Leduc, Ankita Patel, J. Lupski, 2014, JAMA.

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-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genetics in Medicine.

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Justyna A. Karolak, P. Stankiewicz, C. Shaw, 2020, Genetics in Medicine.

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

J. Lupski, R. Gibbs, T. Wienker, 2013, Genome Medicine.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Ivan K. Chinn, Eric A. Smith, J. Lupski, 2017, The Journal of allergy and clinical immunology.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Joshua L. Deignan, W. Chung, N. Spinner, 2016, Genetics in Medicine.

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.

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Tao Wang, Katie Bergstrom, Amy L McGuire, 2016, JAMA oncology.

Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients

Chad A Shaw, Eric Boerwinkle, Fan Xia, 2015, Genetics in Medicine.

A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing

Diane B. Zastrow, E. Ashley, M. Wheeler, 2019, Journal of genetic counseling.

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.

Genotype–phenotype correlations in individuals with pathogenic RERE variants

Donna M. Martin, J. Rosenfeld, N. Boddaert, 2018, Human mutation.

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.

Mohammad A. Ghattas, Yaping Yang, C. Eng, 2017, European journal of medical genetics.

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

A. Breman, C. Shaw, J. Lupski, 2020, Genetics in Medicine.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

Novel FOXF 1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

Gustavo, Ulrike, Schady, 2013 .

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Donna M. Martin, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

A Genocentric Approach to Discovery of Mendelian Disorders.

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2019, American journal of human genetics.

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

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

Lysinuric protein intolerance presenting with multiple fractures

Yaping Yang, A. Willis, M. Hardison, 2014, Molecular genetics and metabolism reports.

A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset

Yaping Yang, C. Eng, M. Vatta, 2012, Journal of child neurology.

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.

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

D. Goldstein, A. Allen, T. Strom, 2018, The EMBO journal.

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

L. Aaltonen, A. Palotie, M. Kurki, 2019, Genetics in Medicine.

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy

J. Rosenfeld, Yaping Yang, Jeffrey J. Kim, 2022, Journal of personalized medicine.

FHF1 (FGF12) epileptic encephalopathy

J. Rosenfeld, Yaping Yang, F. Xia, 2016, Neurology: Genetics.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

J. Rosenfeld, S. Wells, S. Mane, 2016, American journal of human genetics.

De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

R. Redon, J. Rosenfeld, C. Dina, 2016, Human mutation.

Comprehensive genome sequencing analysis as a promising option in the prenatal diagnosis of fetal structural anomalies: a prospective study

Zhiyu Peng, Yaping Yang, Yaping Yang, 2020, bioRxiv.

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

J. Rosenfeld, A. Hamosh, Yaping Yang, 2016, Genetics in Medicine.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

An unusual cause of peroneal neuropathy.

S. Lalani, Yaping Yang, Amitha L Ananth, 2014, Seminars in pediatric neurology.

Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

P. Stankiewicz, Yaping Yang, Ido Machol, 2021, Human genomics.

Molecular Genetic Testing for Metabolic Disorders

Yaping Yang, L. Edelmann, R. Kornreich, 2007 .

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

Yaping Yang, Katrina A B Goddard, Kathryn M Porter, 2018, Molecular genetics & genomic medicine.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

J. Rosenfeld, M. Reijnders, J. Lupski, 2017, American journal of human genetics.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

J. Rosenfeld, Yaping Yang, J. Beuten, 2016, American journal of human genetics.

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

J. Rosenfeld, J. Lupski, J. Belmont, 2017, Genome Medicine.

The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome

R. Pfundt, D. Misceo, Yaping Yang, 2020, Human mutation.

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

R. Pfundt, B. D. de Vries, I. Krantz, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

C. Shaw, J. Lupski, Yaping Yang, 2022, Genome Medicine.

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 .

Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise.

J. Rosenfeld, Yaping Yang, D. Penny, 2018, Heart rhythm.

Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies

Yaping Yang, X. Kong, J. Meng, 2022, Frontiers in Genetics.

Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis

Yaping Yang, Jian Wang, Xietong Wang, 2021, Frontiers in Genetics.

Increased diagnostic yield by reanalysis of data from a hearing loss gene panel

Zhiyu Peng, Yaping Yang, Yulin Zhou, 2019, BMC Medical Genomics.

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

Asan, Huanming Yang, Jian Wang, 2017, EBioMedicine.

Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final‐exon SATB2 frameshift mutation

Yiu Man Chan, J. Hunter, Yaping Yang, 2016, American journal of medical genetics. Part A.

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome

S. Lalani, J. Hunter, Yaping Yang, 2015, American journal of medical genetics. Part A.

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.

Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing†

Chad A. Shaw, Eric P. Kaldjian, Daniel Campton, 2016, Prenatal diagnosis.

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.

Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.

W. Chung, S. Prabhu, Yaping Yang, 2013, JAMA neurology.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Magalie S Leduc, M. Konantz, C. Lengerke, 2017, The Journal of clinical investigation.

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.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Ellen F. Macnamara, Colleen E. Wahl, J. Rosenfeld, 2018, 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.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

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.

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

J. Lacaille, N. Tommerup, M. Tarnopolsky, 2013, Human mutation.

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Justyna A. Karolak, P. Stankiewicz, J. Lupski, 2020, Genetics in Medicine.

Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2020, American journal of medical genetics. Part A.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, 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.

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

J. Rosenfeld, W. Chung, J. Lupski, 2016, American journal of human genetics.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Sarah E. Gould, David R. Murdock, Jean M. Davidson, 2019, Nature Medicine.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Michael F. Wangler, J. Rosenfeld, D. Goldstein, 2017, American journal of human genetics.

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant

J. Belmont, S. Lalani, Yaping Yang, 2015, American journal of medical genetics. Part A.

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.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

J. Rosenfeld, I. Coppens, T. Loddenkemper, 2018, Annals of neurology.

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

Yaping Yang, A. Willis, C. Eng, 2011, International journal of pediatric endocrinology.

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Michael F. Wangler, J. Lupski, D. Krainc, 2021, Annals of neurology.

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.

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice

Yaping Yang, C. Eng, I. B. Van den Veyver, 2015, Prenatal diagnosis.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array‐comparative genomic hybridization

J. Wiszniewska, A. Beaudet, Yaping Yang, 2008, Human mutation.

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.

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

J. Lupski, R. Gibbs, T. Wienker, 2013, 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.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

Nurit Assia Batzir, C. Shaw, J. Lupski, 2021, medRxiv.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

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.

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

Alyssa A. Tran, J. Rosenfeld, B. D. de Vries, 2017, Human mutation.

Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals

J. Rosenfeld, Yaping Yang, D. Penny, 2017, Circulation. Arrhythmia and electrophysiology.

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.

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

S. Lalani, Yaping Yang, C. Eng, 2016, 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 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.

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

R. Schüle, R. Lodi, Yaping Yang, 2015, Nature Genetics.

Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia

R. Gibbs, D. Wheeler, Yaping Yang, 2017, Pediatric blood & cancer.

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.

Increased diagnostic yield by reanalysis of data from a hearing loss gene panel

Zhiyu Peng, Yaping Yang, Yulin Zhou, 2019, BMC Medical Genomics.

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.

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation

A. Beaudet, Yaping Yang, C. Schaaf, 2015, American journal of medical genetics. Part A.

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

P. Stankiewicz, P. Szafranski, Yaping Yang, 2021, Applied Radiology.

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

Jean M. Davidson, Ellen F. Macnamara, Rebecca C. Spillmann, 2019, Journal of genetic counseling.

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

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

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.

Kiely N. James, Jason D. Heaney, J. Rosenfeld, 2017, American journal of human genetics.

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.

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.

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

P. Stankiewicz, K. Bowling, Yaping Yang, 2021, American journal of medical genetics. Part A.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

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

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

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

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

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

Clinical and molecular characterization of de novo loss of function variants in HNRNPU

Magalie S Leduc, Yaping Yang, J. Beuten, 2017, American journal of medical genetics. Part A.

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

J. Rosenfeld, S. Lalani, Yaping Yang, 2019, Neurology: Genetics.

Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

Yaping Yang, L. Potocki, D. Scott, 2019, Journal of Pediatric Genetics.

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis

Yaping Yang, Ning Liu, S. Elsea, 2020, Genetics in Medicine.

Integrated Analysis of Metabolomic Profiling and Exome Data Supplements Sequence Variant Interpretation, Classification, and Diagnosis

Yaping Yang, V. Sutton, Ning Liu, 2020, Genetics in Medicine.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Vinodh Narayanan, Christian Kubisch, Dominique Bonneau, 2018, American journal of human genetics.

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

Mahshid S. Azamian, J. Rosenfeld, J. Lupski, 2016, 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.

Genotype‐phenotype study and expansion of ARL6IP1‐related complicated hereditary spastic paraplegia

J. Rosenfeld, Yaping Yang, C. Siskind, 2020, Clinical genetics.

Rapid response in relapsed follicular lymphoma with massive chylous ascites to anti-CD19 CAR T therapy using Piggy Bac: A case report

Yaping Yang, Q. Qian, Zhicai Lin, 2022, Frontiers in Immunology.

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency

Yaping Yang, M. Bekheirnia, F. Scaglia, 2019, American journal of medical genetics. Part A.

Significantly higher frequency of the MspI 2.2 kb allele of the Duchenne muscular dystrophy intragenic probe P-20 in the Chinese population

Yaping Yang, Jianjun Wei, Bing-xi Chen, 1992, Human Genetics.

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities

Yaping Yang, M. Leduc, C. Eng, 2018, Human Genetics.

Exome Sequencing in the Clinical Setting

Magalie S Leduc, Yaping Yang, M. Leduc, 2017 .

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.

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Magalie S Leduc, S. Murray, J. Seavitt, 2016, American journal of medical genetics. Part A.

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

Diane B. Zastrow, E. Ashley, M. Wheeler, 2019, American journal of medical genetics. Part A.

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.

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease

J. Hunter, Yaping Yang, F. Scaglia, 2016, Journal of child neurology.

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.

Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants

J. Meiler, Yaping Yang, J. Capra, 2021, Neurology.

Implementation and evaluation of clinical exome sequencing in childhood cancer care: The BASIC3 study.

R. Gibbs, S. Hilsenbeck, D. Wheeler, 2013 .

Reliable detection of subchromosomal deletions and duplications using cell‐based noninvasive prenatal testing

A. Breman, C. Shaw, A. Beaudet, 2018, Prenatal diagnosis.

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.

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

Alexander Fedotov, Simon White, Eric Boerwinkle, 2018, Genetics in Medicine.

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 .

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

J. Rosenfeld, J. Jankovic, G. Fuller, 2018, Neurology: Genetics.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO

J. Rosenfeld, M. Patterson, Yaping Yang, 2019, American journal of medical genetics. Part A.

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

Matthew S. Lebo, Lucia A. Hindorff, Levi Garraway, 2013, Genetics in Medicine.

Evidence for Feasibility of Fetal Trophoblastic Cell-Based Noninvasive Prenatal Testing

Jeffrey L. Werbin, A. Breman, C. Shaw, 2017 .

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)

R. Gibbs, D. Muzny, I. Glass, 2016, American journal of medical genetics. Part A.

S. Lalani, Yaping Yang, B. Graham, 1993 .

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

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.

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.

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.

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy‐associated genes among children undergoing exome sequencing reflect healthy population variation

J. Rosenfeld, Yaping Yang, D. Penny, 2019, Molecular genetics & genomic medicine.

Corrigendum to “Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation”

A. Beaudet, Yaping Yang, C. Schaaf, 2015, American journal of medical genetics. Part A.

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.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, Human mutation.

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

Alyssa A. Tran, J. Rosenfeld, B. D. de Vries, 2017, Human mutation.

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

R. Gibbs, S. Hilsenbeck, D. Wheeler, 2016, JAMA oncology.

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

Matthew S. Lebo, L. Garraway, L. Hindorff, 2013, 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.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

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.

De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

R. Redon, J. Rosenfeld, C. Dina, 2016, Human mutation.

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Magalie S Leduc, S. Murray, J. Seavitt, 2016, American journal of medical genetics. Part A.