K. Schoch

发表

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014, Genetics in Medicine.

Clinical application of exome sequencing in undiagnosed genetic conditions

Kelly Schoch, Vandana Shashi, David B Goldstein, 2012, Journal of Medical Genetics.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Martin W. Breuss, A. Pagnamenta, P. Bauer, 2020, European Journal of Human Genetics.

Annotating pathogenic non-coding variants in genic regions

Zhong Ren, Kelly Schoch, Slavé Petrovski, 2017, Nature Communications.

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Yujun Han, Doron Lancet, Elon Pras, 2015, Genetics in Medicine.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2017, American journal of human genetics.

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.

Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms

M. Keshavan, Alan N. Francis, S. Hooper, 2012, European Journal of Human Genetics.

Applicability of the Nonverbal Learning Disability Paradigm for Children With 22q11.2 Deletion Syndrome

S. Hooper, Santiago Saldana, V. Shashi, 2014, Journal of learning disabilities.

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

Sharyn A. Lincoln, J. Sinsheimer, K. Schoch, 2018, Journal of Genetic Counseling.

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.

A J Agopian, E. Zackai, M. Owen, 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.

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

Rebecca C. Spillmann, S. Hooper, V. Shashi, 2019, Clinical genetics.

Discrepancies in parent and teacher ratings of social-behavioral functioning of children with chromosome 22q11.2 deletion syndrome: implications for assessment.

K. Curtiss, S. Hooper, V. Shashi, 2013, American journal on intellectual and developmental disabilities.

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.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

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

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

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.

Pseudometabolic presentation of dystrophinopathy due to a missense mutation

V. Shashi, K. Schoch, Yong-hui Jiang, 2010, Muscle & nerve.

approach is highly effective in diagnosing individuals who are negative.

Rebecca C. Spillmann, Q. K. Tan, A. Need, 2019 .

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy

S. Petrovski, V. Shashi, R. Crimian, 2015, Clinical genetics.

Developmentally Based Approaches for Counseling Children and Adolescents

K. Schoch, S. Austin, 2020 .

Chromosome 22q11.2 deletion syndrome in African‐American patients: A diagnostic challenge

K. Coleman, M. Lyons, V. Shashi, 2011, American journal of medical genetics. Part A.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 1 22q11.2DS and sporadic congenital heart disease 2

M. Owen, C. Marshall, Zhengdong D. Zhang, 2022 .

Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome

S. Hooper, V. Shashi, K. Schoch, 2015, Journal of Genetic Counseling.

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

J. Rosenfeld, K. Schoch, J. Phillips, 2022, Human mutation.

Exome/Genome Sequencing in Undiagnosed Syndromes

Rebecca C. Spillmann, V. Shashi, K. Schoch, 2023, Annual review of medicine.

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.

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.

Practical considerations in the clinical application of whole‐exome sequencing

D. Goldstein, V. Shashi, K. Schoch, 2016, Clinical genetics.

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

Murim Choi, V. Shashi, K. Schoch, 2019, Human mutation.

Digitalcommons@shu Speech-language Pathology Faculty Publications Speech-language Pathology Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and Digeorge Syndromes

A. Auton, T. Werge, E. Zackai, 2022 .

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

V. Shashi, K. Schoch, B. Dallapiccola, 2021, American journal of medical genetics. Part A.

Annotating pathogenic non-coding variants in genic regions

K. M. McSweeney, D. Goldstein, S. Petrovski, 2017, Nature Communications.

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Emily G. Kelley, Sharyn A. Lincoln, Ellen F. Macnamara, 2020, Molecular genetics & genomic medicine.

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Allyn McConkie-Rosell, Kelly Schoch, Vandana Shashi, 2013, Genetics in Medicine.

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

A. Need, V. Shashi, K. Schoch, 2013, Genetics in Medicine.

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.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

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

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

K. M. McSweeney, D. Goldstein, R. Dhindsa, 2015, Cold Spring Harbor molecular case studies.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Alex V. Kotlar, Sunny X. Tang, E. Zackai, 2020, Molecular Psychiatry.

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders

Rebecca C. Spillmann, D. Goldstein, S. Hooper, 2016, Journal of Genetic Counseling.

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.

Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era

Emily G. Kelley, Ellen F. Macnamara, K. Schoch, 2019, Journal of genetic counseling.

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

Rebecca C. Spillmann, Undiagnosed Diseases Network, S. Hooper, 2018, Journal of Genetic Counseling.

Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome

M. Keshavan, V. Shashi, K. Schoch, 2012, Translational Psychiatry.

Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome

M. Keshavan, V. Shashi, K. Schoch, 2012, Translational Psychiatry.

Dysregulation of DGCR 6 and DGCR 6 L : Psychopathological Outcomes in Chromosome 22 q 11 . 2 Deletion Syndrome

M. Keshavan, V. Shashi, K. Schoch, 2012 .

The importance of dynamic re-analysis in diagnostic whole exome sequencing

A. Need, D. Goldstein, S. Petrovski, 2016, Journal of Medical Genetics.

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.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

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.

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

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

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to accelerate genetic disease diagnosis

M. Wheeler, G. Bejerano, C. Brownstein, 2018, bioRxiv.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2016, American journal of human genetics.

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.

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.

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

Undiagnosed Diseases Network, M. Wheeler, G. Bejerano, 2018, Genetics in 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.

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing

D. Goldstein, S. Petrovski, V. Shashi, 2015, Cold Spring Harbor molecular case studies.

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

Rebecca C. Spillmann, Q. K. Tan, A. Need, 2018, Genetics in Medicine.

Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features.

Michael F. Wangler, H. Bellen, Shinya Yamamoto, 2021, Human molecular genetics.

The RBMX gene as a candidate for the Shashi X‐linked intellectual disability syndrome

A. Need, V. Shashi, K. Schoch, 2015, Clinical Genetics.

Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project

Sarah J. Hart, V. Shashi, K. Schoch, 2016, Journal of Genetic Counseling.

Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention.

M. Keshavan, S. Eack, V. Shashi, 2015, Journal of intellectual disability research : JIDR.

A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders.

L. Campbell, V. Shashi, K. Schoch, 2015, Journal of intellectual disability research : JIDR.

Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome.

K. Curtiss, V. Shashi, K. Schoch, 2014, Journal of intellectual disability research : JIDR.

Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome.

Matcheri S Keshavan, Kelly Schoch, Vandana Shashi, 2013, Research in developmental disabilities.

A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome.

M. Keshavan, K. Curtiss, S. Hooper, 2013, Research in developmental disabilities.

Altered Development of the Dorsolateral Prefrontal Cortex in Chromosome 22q11.2 Deletion Syndrome: An In Vivo Proton Spectroscopy Study

Jeffrey A. Stanley, Stephen R. Hooper, Matcheri S. Keshavan, 2012, Biological Psychiatry.

Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions.

M. Keshavan, S. Hooper, V. Shashi, 2012, Journal of intellectual disability research : JIDR.

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.

Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

Rebecca C. Spillmann, Q. K. Tan, S. Hooper, 2021, Journal of genetic counseling.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Rebecca C. Spillmann, D. Goldstein, D. Wechsler, 2017, Genetics in Medicine.

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Q. K. Tan, V. Shashi, K. Schoch, 2020, Genetics in Medicine.

Discordance in Diagnoses and Treatment of Psychiatric Disorders in Children and Adolescents with 22q11.2 Deletion Syndrome.

S. Hooper, V. Shashi, K. Schoch, 2011, Asian journal of psychiatry.

Epilepsy in trisomy 7 mosaicism: A case report and literature review

V. Shashi, K. Schoch, William B. Gallentine, 2011, Journal of Pediatric Neurology.

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Michael F. Wangler, A. Need, S. Levy, 2018, Human molecular genetics.

Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.

Kristin A. Maloney, Ivan K. Chinn, V. Shashi, 2011, European journal of medical genetics.

Epilepsy in KCNH1-related syndromes.

I. Scheffer, V. Shashi, K. Schoch, 2016, Epileptic disorders : international epilepsy journal with videotape.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Whitney J. Smith, R. Redon, J. Rosenfeld, 2022, American journal of human genetics.

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.

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Q. K. Tan, D. Goldstein, V. Shashi, 2020, Genetics in Medicine.

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.

Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

Rebecca C. Spillmann, S. Hooper, V. Shashi, 2023, Journal of genetic counseling.

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.

Socioeconomic Status and Psychological Function in Children with Chromosome 22q11.2 Deletion Syndrome: Implications for Genetic Counseling

M. Keshavan, S. Hooper, V. Shashi, 2010, Journal of Genetic Counseling.

Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014 .

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.

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.

COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome

M. Keshavan, V. Shashi, K. Schoch, 2010, Psychiatry Research.

Assessment of Parental Disclosure of a 22q11.2 Deletion Syndrome Diagnosis and Implications for Clinicians

S. Hooper, V. Shashi, K. Schoch, 2012, Journal of Genetic Counseling.

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.

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

Gill Bejerano, Johannes Birgmeier, Cole A. Deisseroth, 2018, Genetics in Medicine.

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

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

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

Sharyn A. Lincoln, Rebecca C. Spillmann, J. Sinsheimer, 2018, Journal of Genetic Counseling.

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Michael F. Wangler, H. Bellen, Shinya Yamamoto, 2022, Human molecular genetics.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

S. Scherer, M. Owen, R. Gur, 2020, Nature Medicine.

Human Mutation

A. Spurdle, V. Shashi, K. Schoch, 2019 .

Dysregulation of DGCR6 and DGCR6 L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome

M. Keshavan, V. Shashi, K. Schoch, 2012, Translational Psychiatry.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

M. Owen, C. Marshall, Zhengdong D. Zhang, 2023, NPJ genomic medicine.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

C. Marshall, D. Heine-Suñer, D. Zheng, 2022, bioRxiv.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.