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List of works by Christine M. Eng

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

scientific article

A Genocentric Approach to Discovery of Mendelian Disorders

scientific article published on 24 October 2019

A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset ⬇️

scientific article published on June 1, 2012

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

scientific article published on 26 July 2019

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

scientific article published on 23 January 2017

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

article

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

scientific article published on 2 February 2016

ASSESSING THE UTILITY OF CLINICAL TUMOR SEQUENCING IN THE PEDIATRIC NEURO-ONCOLOGY CLINIC.

scientific article published in July 2014

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

scientific article published on 20 March 2019

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

scientific article published on 20 July 2018

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

scientific article published on 31 August 2016

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

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

scientific article published on 21 March 2017

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

scientific article published on 25 December 2018

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

scientific article published on 24 June 2020

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

scientific article

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

scientific article published on September 19, 2012

Characterization of the renal phenotype in RMND1-related mitochondrial disease

scientific article published on 30 September 2019

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis ⬇️

scientific article published on December 6, 2012

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

scientific article

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

scientific article published on 01 June 2013

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

scientific article published on 28 September 2018

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

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

scientific article published on January 2009

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

scientific article

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

scientific article published on 22 May 2013

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

scientific article published on 17 May 2019

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

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

scientific article published on 01 April 2020

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

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

scientific article published on 02 July 2019

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

scientific article

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

scientific article published on 28 June 2018

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

scientific article published on 17 August 2016

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

scientific article published on 28 February 2019

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

scientific article published on 19 March 2018

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

scientific article published on 3 June 2019

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

scientific article published on 07 July 2016

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

scientific article

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

scientific article published on 28 January 2016

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

scientific article published in April 2008

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

scientific article published on July 6, 2011

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

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

scientific article published on 28 June 2017

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

scientific article published on August 16, 2013

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

scientific article

Exome Sequencing: Applications From the Lab Bench to the Clinic

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

scientific article published on January 2017

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

scientific article published on 27 June 2013

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

scientific article published on 28 March 2019

Genetic Diagnosis through Whole-Exome Sequencing

scientific article published on 01 March 2014

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

scientific article published on 13 March 2017

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

scientific article

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

scientific article published on 25 June 2017

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

scientific article published on 11 November 2016

IRF2BPL Is Associated with Neurological Phenotypes

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

scientific article published in December 2006

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

scientific article published on September 2016

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

scientific article

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

scientific article

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

scientific article published on 19 May 2011

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

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

scientific article published on 13 July 2020

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

scientific article

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

scientific article

Molecular diagnostic experience of whole-exome sequencing in adult patients

scientific article published on 03 December 2015

Molecular findings among patients referred for clinical whole-exome sequencing

scientific article

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

scientific article published on April 1, 2012

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

scientific article

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

scientific article published on 12 December 2012

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

scientific journal article

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

scientific article published on 01 January 2019

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

scientific article published on 28 January 2019

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

scientific article

POGZ truncating alleles cause syndromic intellectual disability.

scientific article

Phenotypic expansion in - a common cause of intellectual disability in females

scientific article published on 15 September 2018

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young

scientific article published on 19 July 2016

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

scientific article published on January 2008

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

scientific article published on 01 November 2006

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

scientific article

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

scientific article

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

scientific article published on 01 April 2019

Reanalysis of Clinical Exome Sequencing Data

scientific article published on 01 June 2019

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

scientific article published on 07 September 2016

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

scientific journal article

Regional genomic instability predisposes to complex dystrophin gene rearrangements

scientific article published on 16 May 2009

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

scientific article

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

scientific article published on 15 August 2015

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

scientific article published on 07 December 2016

TBIO-20. CLINICAL TUMOR WHOLE EXOME SEQUENCING FOR PEDIATRIC NEURO-ONCOLOGY PATIENTS – RESULTS FROM THE BAYLOR ADVANCING SEQUENCING IN CHILDHOOD CANCER CARE (BASIC3) CLINICAL SEQUENCING STUDY

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

scientific article published on 13 July 2016

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.

scientific article published on 26 January 2017

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

scientific article published on 9 February 2018

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

scientific article

Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation

scientific article published in September 2004

What’s in an exome? Diversity of diagnostic and incidental findings revealed by clinical tumor and germline sequencing of 100 children with solid tumors

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

scientific article

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

scientific article published on 31 October 2017

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

scientific article published on 22 September 2016

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