L. Emrick

发表

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Julie C. Sapp, J. Rosenfeld, E. Zackai, 2017, Genetics in Medicine.

Foscarnet and ganciclovir pharmacokinetics during concomitant or alternating maintenance therapy for AIDS‐related cytomegalovirus retinitis

M. Jacobson, F. Aweeka, B. Polsky, 1995, Clinical pharmacology and therapeutics.

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.

Alyssa A. Tran, Denise G. Lanza, J. Rosenfeld, 2021, American journal of human genetics.

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

H. Mefford, O. Devinsky, A. Bayat, 2022, EBioMedicine.

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.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.

F. Scaglia, S. Parikh, M. Koenig, 2016, JAMA neurology.

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

Lisa T. Emrick, W. Craigen, F. Scaglia, 2012, Molecular genetics and metabolism.

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.

De Novo Mutations in Patients with Ataxic CP

L. Emrick, S. Agarwal, 2015, Pediatric neurology briefs.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Lisa T. Emrick, Ivan K. Chinn, J. Rosenfeld, 2018, 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.

A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.

D. Calame, T. Lotze, L. Emrick, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration

P. Hogarth, F. Mochel, M. Kurian, 2021, Developmental medicine and child neurology.

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

S. Lalani, M. Shinawi, V. Sutton, 2019, Front. Neurosci..

Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.

V. Sutton, C. Bacino, T. Donti, 2015, Molecular genetics and metabolism.

Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders

A. Vanderver, R. Schiffmann, J. Shults, 2020, Annals of neurology.

Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes

Marilyn M. Li, V. Sutton, A. Shamshirsaz, 2014, 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.

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.

Lisa T. Emrick, W. Craigen, F. Scaglia, 2016, Molecular genetics and metabolism.

Natural history of posterior fetal cephaloceles and incidence of progressive cephalocele herniation.

W. Whitehead, M. Belfort, M. Sanz-Cortés, 2022, Journal of neurosurgery. Pediatrics.

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

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

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

G. Enns, F. Scaglia, E. Pomfret, 2020, Molecular genetics and metabolism.

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.

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

Alyssa A. Tran, Denise G. Lanza, J. Rosenfeld, 2020, bioRxiv.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

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

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

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

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.

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

J. Rosenfeld, E. Zackai, L. Burrage, 2021, Molecular Autism.

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.

J. Rosenfeld, S. Lalani, T. Schedl, 2022, Molecular genetics and metabolism.

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

J. Rosenfeld, S. Lalani, T. Schedl, 2022, bioRxiv.

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.

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.

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

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

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

A. Vanderver, J. Fish, T. Pierson, 2020, Pediatric neurology.

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2019, Annals of clinical and translational neurology.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Undiagnosed Diseases Network, J. Rosenfeld, N. Brown, 2021, Human mutation.

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 novel, de novo intronic variant in POGZ causes White–Sutton syndrome

David R. Murdock, J. Rosenfeld, R. Lewis, 2022, 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.

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.

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

David R. Murdock, Lauren S Blieden, J. Rosenfeld, 2021, 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.

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Michael F. Wangler, V. Sutton, T. Donti, 2016, Molecular genetics and metabolism reports.

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Mercedes E. Alejandro, Alyssa A. Tran, J. Rosenfeld, 2019, bioRxiv.

Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome.

W. Craigen, F. Scaglia, A. El-Hattab, 2014, The international journal of biochemistry & cell biology.

D. Calame, Hsiao-Tuan Chao, D. Takács, 2020, Neurology: Genetics.

Human genome meeting 2016

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

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.

Genetic Testing and Counseling and Child Neurology.

L. Emrick, Roa Sadat, 2021, Neurologic clinics.

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

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

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome

W. Craigen, F. Scaglia, A. El-Hattab, 2013, Meta gene.

Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders.

W. Craigen, F. Scaglia, A. El-Hattab, 2012, Molecular genetics and metabolism.

Fetal Neurology Practice Survey: Current Practice and the Future Directions.

M. Scher, M. Lemmon, S. Mulkey, 2023, Pediatric neurology.

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.

W. Craigen, F. Scaglia, A. El-Hattab, 2014, Mitochondrion.

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

M. Tarnopolsky, P. Yu-Wai-Man, J. Shoffner, 2017, Journal of Inherited Metabolic Disease.

A case of treatable encephalopathy, developmental regression, and proximal tremor.

L. Emrick, Roa Sadat, M. Hull, 2021, Parkinsonism & related disorders.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Ellen F. Macnamara, Barbara N. Pusey, J. Rosenfeld, 2023, American journal of human genetics.

The Expanding Role of Genetics in Cerebral Palsy.

S. DiCarlo, L. Emrick, 2020, Physical medicine and rehabilitation clinics of North America.

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

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

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.

Clinical Reasoning: Ventriculomegaly detected on 20-week anatomic fetal ultrasound

A. Lyons-Warren, L. Emrick, R. Stowe, 2018, 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.

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.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

J. Rosenfeld, E. Zackai, A. Pagnamenta, 2017, 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.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: Further delineation of the 17p13.3 microdeletion spectrum

J. Rosenfeld, J. Belmont, A. Vanderver, 2018, Genetics in Medicine.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrum

J. Rosenfeld, J. Belmont, S. Lalani, 2018, bioRxiv.

Early Identification of Pediatric Neurology Patients With Palliative Care Needs: A Pilot Study

A. Lyons-Warren, L. Emrick, R. Stowe, 2019, The American journal of hospice & palliative care.

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature

Alyssa A. Tran, J. Rosenfeld, J. Belmont, 2019, American journal of medical genetics. Part A.

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.

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

J. Rosenfeld, H. Freeze, Mahim Jain, 2018, American journal of human genetics.

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.

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.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

Anovel de novo intronic variant in ITPR1 causes Gillespie syndrome

David R. Murdock, Lauren S Blieden, J. Rosenfeld, 2021 .

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Lisa T. Emrick, S. Lalani, M. Shinawi, 2019, Front. Neurosci..

VarSight: prioritizing clinically reported variants with binary classification algorithms

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