C. Eng

C. Eng, R. Desnick, P. Ashton-Prolla, 2000, Journal of investigative medicine : the official publication of the American Federation for Clinical Research.

Twenty Novel Mutations in the α-Galactosidase A Gene Causing Fabry Disease

C. Eng, R. Desnick, A. Topaloğlu, 1999, Molecular medicine.

Fabry Disease: Thirty-Five Mutations in the α-Galactosidase A Gene in Patients with Classic and Variant Phenotypes

C. Eng, R. Desnick, M. D’Souza, 1997, Molecular medicine.

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

C. Eng, R. Desnick, L. Resnick-Silverman, 1993, American journal of human genetics.

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

C. Eng, R. Desnick, M. Yasuda, 2001, Journal of human genetics.

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle

D. Wheeler, D. Parsons, R. Person, 2016, Cold Spring Harbor molecular case studies.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

Regional genomic instability predisposes to complex dystrophin gene rearrangements

L. D. White, A. Breman, C. Eng, 2009, Human Genetics.

Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases.

C. Eng, R. Desnick, RobertJ. Desnick, 2001, Advances in genetics.

Clinical experience with non‐invasive prenatal screening for single‐gene disorders

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

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.

Clinical and molecular features of pediatric cancer patients with Lynch syndrome

R. Gibbs, D. Muzny, D. Parsons, 2021, Pediatric blood & cancer.

Pulmonary involvement in Fabry disease.

C. Eng, R. Desnick, A. Miller, 1997, American journal of respiratory and critical care medicine.

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining

A. Breman, P. Ward, C. Eng, 2011, Journal of Human Genetics.

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.

C. Eng, R. Desnick, 1994, Human mutation.

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach

C. Eng, M. Rabinowitz, Z. Demko, 2020, Genetics in Medicine.

An atypical variant of Fabry's disease with manifestations confined to the myocardium.

C. Eng, R. Desnick, E. Erdmann, 1991, The New England journal of medicine.

Fabry Disease: An Unusual Cause of Severe Coronary Disease in a Young Man

E. Fisher, C. Eng, R. Desnick, 1992, Annals of Internal Medicine.

Multidisciplinary Management of Hunter Syndrome

C. Eng, U. Ramaswami, R. Giugliani, 2009, Pediatrics.

POGZ truncating alleles cause syndromic intellectual disability

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

Erratum: A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) (Genetics in Medicine (August 2006) 8, 8, (465-473))

C. Eng, M. Shinawi, U. Ramaswami, 2006 .

Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)

C. Eng, R. Giugliani, J. Muenzer, 2008, Pediatrics.

Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

C. Eng, T. Cowan, N. Raben, 1994, American journal of human genetics.

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

W F Bodmer, P Rozen, L. Aaltonen, 2001, American journal of human genetics.

Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease.

W. H. Hall, Robin E Berman, F. Collins, 1996, JAMA.

Chromosomal microarray versus karyotyping for prenatal diagnosis.

D. Ledbetter, L. Shaffer, Ankita Patel, 2012, The New England journal of medicine.

Prenatal genetic carrier testing using triple disease screening.

C. Eng, R. Desnick, B. Levy, 1997, JAMA.

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

J. Oliveira, C. Wanner, C. Eng, 2008, Molecular genetics and metabolism.

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.

Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum.

A. Beaudet, H. Zoghbi, C. Eng, 1992, Genomics.

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.

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.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype

Diane B. Zastrow, E. Ashley, M. Wheeler, 2017, Cold Spring Harbor molecular case studies.

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

P. Stankiewicz, J. Wiszniewska, Ankita Patel, 2013, European Journal of Human Genetics.

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Ankita Patel, J. Lupski, S. Cheung, 2006, 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, J. Lupski, 2020, Genetics in Medicine.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Alexander Hanbo Li, Mahshid S. Azamian, J. Rosenfeld, 2017, Genome Medicine.

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

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

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.

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Richard A Marini, Simon X. Xu, Nicole M. Russo-Ponsaran, 2019, npj Genomic Medicine.

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.

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

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

Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.

C. Eng, R. Desnick, H. Sakuraba, 1992, Genomics.

Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse.

A. Beaudet, H. Zoghbi, C. Eng, 1991, Genomics.

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

R. Hennekam, N. S. Thomas, C. Eng, 2004, Journal of Medical Genetics.

20 patients with 2 q 37 . 3 monosomy : definition of minimum deletion intervals for key phenotypes

R. Hennekam, N. S. Thomas, C. Eng, 2004 .

Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.

C. Eng, J. Vijg, I. Sigalas, 1998, Carcinogenesis.

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.

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

J. Wiszniewska, A. C. Chinault, Ankita Patel, 2008, American journal of medical genetics. Part A.

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.

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

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

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

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.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

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.

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Anibal Gutierrez, Robert T. Schultz, Nicholas Carriero, 2018, Neuron.

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.

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

W. Chung, Yufeng Shen, C. Tifft, 2016, Journal of Medical 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 .

Critical factors in the performance and cost of two-dimensional gene scanning: RB1 as a model.

R K Dhanda, N J van Orsouw, I Sigalas, 1998, BioTechniques.

Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis.

C. Eng, R. Kolodner, J. Vijg, 1998, Genetic testing.

Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis

S. Cheung, C. Eng, B. Roa, 2005, Expert review of molecular diagnostics.

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.

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

L. D. White, Ankita Patel, C. Shaw, 2009, Prenatal diagnosis.

Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.

J. Garber, C. Eng, C. Eng, 1999, JAMA.

Diagnostic Techniques Critical Factors in the Performance and Cost of Two-Dimensional Gene Scanning : RB 1 as a Model

C. Eng, J. Vijg, I. Sigalas, 1999 .

Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests.

C. Eng, J. Vijg, I. Sigalas, 1998, Nucleic acids research.

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

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

Chromosomal microarray versus karyotyping for prenatal diagnosis

D. Ledbetter, L. Shaffer, Ankita Patel, 2013 .

Multiplex ligation‐dependent probe amplification (MLPA) and prenatal diagnosis

A. Willis, C. Eng, I. Veyver, 2012, Prenatal diagnosis.

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.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Z. Ou, P. Stankiewicz, Ankita Patel, 2009, Journal of Medical 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.

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome

J. Lupski, A. Willis, Z. Niu, 2013, American journal of medical genetics. Part A.

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.

Frequency of genomic incidental findings among 21,915 eMERGE network participants

Magalie S Leduc, Marc S. Williams, N. Lennon, 2020, Genetics in Medicine.

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

R. Gibbs, S. Hilsenbeck, A. McGuire, 2014, Genome Medicine.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

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

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

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach

C. Eng, M. Rabinowitz, Z. Demko, 2020, Genetics in 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.

Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

D. Sillence, J. Charrow, C. Eng, 2007, Journal of Inherited Metabolic Disease.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, npj Genomic Medicine.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Characterization of the renal phenotype in RMND1‐related mitochondrial disease

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

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Fabry Disease: Fourteen α-Galactosidase A Mutations in Unrelated Families from the United Kingdom and Other European Countries

K. Macdermot, C. Eng, R. Desnick, 1996, European journal of human genetics : EJHG.

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.

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives

Ankita Patel, S. Cheung, P. Ward, 2008, Genetics in Medicine.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, NPJ genomic medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

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.

Molecular Prenatal Diagnostic Testing

J. Wiszniewska, C. Eng, 2012 .

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.

Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.

C. Eng, R. Desnick, N. Ellis, 1998, Molecular genetics and metabolism.

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.

Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.

J. Gusella, C. Eng, R. Desnick, 1995, American journal of medical genetics.

Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients.

I. Bleiweiss, C. Eng, P. Tartter, 1998, American journal of human genetics.

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Michael F. Wangler, A. Goldman, C. Eng, 2019, Cold Spring Harbor molecular case studies.

Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy

Diane B. Zastrow, M. Wheeler, S. Montgomery, 2021, Journal of neurogenetics.

Functional and structural analysis of cytokine selective IL6ST defects that cause recessive hyper-IgE syndrome.

Diane B. Zastrow, E. Ashley, M. Wheeler, 2021, The Journal of allergy and clinical immunology.

Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17

R. Berkowitz, C. Eng, D. French, 1998, British journal of haematology.

Human genome meeting 2016

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

Human α-Galactosidase: Characterization and Eukaryotic Expression of the Full-Length cDNA and Structural Organization of the Gene

C. Eng, R. Desnick, R. Kornreich, 1988 .

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.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

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

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

Molecular exclusion of haemoglobin SD disease by prenatal diagnosis

C. Eng, F. Fodor, 1999, Prenatal Diagnosis.

Heterozygous variants in SPTBN1 cause intellectual disability and autism

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

Genetic and clinical aspects of familial renal neoplasms.

C. Eng, O. Iliopoulos, 2000, Seminars in oncology.

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.

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

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

Fabry Disease:: Renal Sonographic and Magnetic Resonance Imaging Findings in Affected Males and Carrier Females With the Classic and Cardiac Variant Phenotypes

C. Eng, R. Desnick, R. Glass, 2004, Journal of computer assisted tomography.

Absence of 185delAG mutation of the BRCA1 gene and 6174delT mutation of the BRCA2 gene in Ashkenazi Jewish men with prostate cancer.

R. Stock, N. Stone, C. Eng, 1998, British Journal of Cancer.

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

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

The ethics of conducting molecular autopsies in cases of sudden death in the young

R. Gibbs, S. Scherer, J. Belmont, 2016, Genome research.

An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.

M. Southey, W. Bodmer, A. Rowan, 2003, American journal of human genetics.

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.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

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

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

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Human genome meeting 2016

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

Is Whole‐Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors

R. Gibbs, A. McGuire, R. Street, 2016, Pediatric blood & cancer.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

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.

Beliefs in vaccine as causes of autism among SPARK cohort caregivers.

Richard A Marini, Simon X. Xu, Jacob B. Hall, 2020, Vaccine.

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.

Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene.

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Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.

C. Eng, David R Adams, 2019, The New England journal of medicine.

MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia

C. Eng, R. Desnick, J. Abdenur, 1996, Prenatal diagnosis.

Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry's disease

G. Abor, Obert, C. Eng, 2001 .

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 missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

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.

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Alexander Hanbo Li, Mahshid S. Azamian, J. Rosenfeld, 2017, Genome Medicine.

PTEN hamartoma tumour syndrome: variability of an entity

R. Hennekam, L. D. de Vries, C. Eng, 2003, Journal of medical genetics.

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy.

Robert J. Desnick, Christine M. Eng, Matteo A. Russo, 2001, The New England journal of medicine.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

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

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Uva-dare (digital Academic Repository) Safety and Efficacy of Recombinant Human Alpha-galactosidase a Replacement Therapy in Fabry's Disease Safety and Efficacy of Recombinant Human a -galactosidase a Replacement Therapy in Fabry's Disease

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Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

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Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene.

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Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

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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

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

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