L. Burrage

发表

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, Ariana E. Giuliano, J. Wiszniewska, 2014, The Lancet Neurology.

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

M. Baumgartner, A. Gropman, M. Yudkoff, 2019, Annals of neurology.

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

N. Hauser, B. Graham, J. Christodoulou, 2019, Mitochondrion.

Maternal folate polymorphisms and the etiology of human nondisjunction.

S. Schwartz, N. S. Thomas, P. Jacobs, 2001, American journal of human genetics.

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

Adam D. Kennedy, Lindsay C. Burrage, Arthur L. Beaudet, 2015, Journal of Inherited Metabolic Disease.

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.

V. Sutton, B. Graham, L. Burrage, 2016, The Journal of pediatrics.

Pleiotropy, homeostasis, and functional networks based on assays of cardiovascular traits in genetically randomized populations.

Y. Pao, J. Nadeau, G. Churchill, 2003, Genome research.

Neonatal fractures as a presenting feature of LMOD3‐associated congenital myopathy

Alyssa A. Tran, R. Gibbs, D. Muzny, 2017, American journal of medical genetics. Part A.

Adult presentation of X‐linked Conradi‐Hünermann‐Happle syndrome

R. Gibbs, J. Posey, Philippe M. Campeau, 2015, American journal of medical genetics. Part A.

Lysinuric protein intolerance presenting with multiple fractures

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

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.

Philippe M. Campeau, L. Burrage, Brendan H. Lee, 2014, Human molecular genetics.

GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis

J. Hunter, Dana Marafi, F. Scaglia, 2019, Neurology: Genetics.

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.

Genetic Dissection of Complex Traits with Chromosome Substitution Strains of Mice

Eric S. Lander, John S. Witte, Joseph H. Nadeau, 2004, Science.

A quantitative trait locus on chromosome 6 regulates the onset of puberty in mice.

J. Nadeau, C. Hodges, L. Burrage, 2006, Endocrinology.

A Global Slc7a7 Knockout Mouse Model Demonstrates Characteristic Phenotypes of Human Lysinuric Protein Intolerance.

Denise G. Lanza, Jennie R. Green, B. Dawson, 2020, Human molecular genetics.

Biomarkers for liver disease in urea cycle disorders.

L. Burrage, S. Nagamani, D. Leung, 2021, Molecular genetics and metabolism.

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.

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.

J. Marini, L. Burrage, Brendan H. Lee, 2020, JCI insight.

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.

Catel–Manzke syndrome: Further delineation of the phenotype associated with pathogenic variants in TGDS

Mahim Jain, L. Burrage, Brendan H. Lee, 2015, Molecular genetics and metabolism reports.

Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation.

B. Dawson, L. Burrage, Brendan H. Lee, 2020, The Journal of clinical investigation.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Michael F. Wangler, J. Rosenfeld, A. Moser, 2020, Neuron.

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

Mahshid S. Azamian, Alyssa A. Tran, J. Rosenfeld, 2022, American journal of medical genetics. Part A.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

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.

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.

Mahim Jain, L. Burrage, Brendan H. Lee, 2014, Molecular genetics and metabolism.

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

A. V. Vulto-van Silfhout, E. Haan, R. Gibbs, 2013, American journal of human genetics.

19-Year Follow-up of A Patient With Severe Glutathione Synthetase Deficiency

V. Sutton, L. Burrage, P. Atwal, 2016, Journal of Human Genetics.

Long-read sequencing for diagnosis in the Undiagnosed Diseases Network

David R. Murdock, J. Rosenfeld, F. Sedlazeck, 2021, Molecular Genetics and Metabolism.

RNA Sequencing as a Diagnostic Tool.

S. Ketkar, L. Burrage, Brendan H Lee, 2022, JAMA.

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.

Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis

Annie E. Hill, M. Daly, E. Lander, 2008, Proceedings of the National Academy of Sciences.

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

W. Craigen, V. Sutton, B. Graham, 2017, Molecular genetics and metabolism.

Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

B. Graham, L. Burrage, G. Mazariegos, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

W. Craigen, V. Sutton, F. Scaglia, 2019, Molecular genetics and metabolism.

Pulmonary Nodules in an Immunocompetent Child With Cat Scratch Disease

L. Burrage, B. E. Gonzalez, A. Bandyopadhyay, 2013, The Pediatric infectious disease journal.

Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management.

L. Burrage, Lindsay C Burrage, Suzanne W Boyer, 2015, Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition.

Metabolic Disorders

L. Burrage, R. Marom, 1979, Handbook of Clinical Adult Genetics and Genomics.

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

J. Rosenfeld, P. Donohoue, Mahim Jain, 2016, Human molecular genetics.

Multi-site Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism.

Ayesha Ahmad, Corey Powell, L. Burrage, 2022, The Journal of pediatrics.

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

G. Georgiou, L. Burrage, Brendan H. Lee, 2015, Human molecular genetics.

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

J. Shendure, R. Gibbs, D. Nickerson, 2015, bioRxiv.

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

J. Shendure, R. Gibbs, D. Nickerson, 2015, bioRxiv.

Genetic resistance to diet-induced obesity in chromosome substitution strains of mice

M. Daly, E. Lander, J. Nadeau, 2010, Mammalian Genome.

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.

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.

Whole‐Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI

Alyssa A. Tran, R. Gibbs, S. Jhangiani, 2018, JBMR plus.

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

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

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.

David R. Murdock, Michael F. Wangler, J. Rosenfeld, 2020, 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.

Early childhood presentation of Czech dysplasia

R. Gibbs, Philippe M. Campeau, C. Bacino, 2013, Clinical dysmorphology.

De novo interstitial duplication of 15q11.2–q13.1 with complex maternal uniparental trisomy for the 15q11–q13 region in a patient with Prader–Willi syndrome

J. Wiszniewska, R. Person, W. Bi, 2012, American journal of medical genetics. Part A.

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Ivan K. Chinn, J. Lupski, R. Gibbs, 2021, Frontiers in Pediatrics.

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.

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.

Ping Zhang, Hong Jiang, Sridevi Devaraj, 2018, American journal of human genetics.

Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis.

J. Nadeau, P. Scacheri, L. Burrage, 2011, Genome research.

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.

Analyzing complex traits with congenic strains

J. Nadeau, C. Hodges, H. Jacob, 2010, Mammalian Genome.

Genetic factors for resistance to diet-induced obesity and associated metabolic traits on mouse chromosome 17

J. Nadeau, Annie E. Hill-Baskin, L. Burrage, 2009, Mammalian Genome.

Resistance to diet-induced obesity in mice with a single substituted chromosome.

Annie E. Hill, J. Nadeau, L. Burrage, 2008, Physiological genomics.

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.

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.

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.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

David R. Murdock, J. Rosenfeld, B. Lambrecht, 2020, The Journal of experimental medicine.

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.

A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14

S. Cheung, L. Burrage, L. M. Franco, 2013, 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.

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.

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.

Lung Transplantation for FLNA‐Associated Progressive Lung Disease

S. Lalani, S. Morris, L. Burrage, 2017, The Journal of pediatrics.

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 of CACNA1C-associated disorders to include isolated neurological manifestations

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

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

David R. Murdock, Vicente A. Yépez, J. Rosenfeld, 2020, The Journal of clinical investigation.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Magalie S Leduc, D. Goldstein, E. van Binsbergen, 2021, Epilepsia.

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.

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

J. Hunter, Z. Niu, B. Graham, 2014, Molecular genetics and metabolism.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

C. Shaw, S. Cheung, T. Bohan, 2015, Orphanet Journal of Rare Diseases.

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature

David R. Murdock, Alyssa A. Tran, J. Rosenfeld, 2022, American journal of medical genetics. Part A.

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 recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

J. Rosenfeld, P. Donohoue, Mahim Jain, 2016, Human molecular 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.

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 variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

J. Rosenfeld, A. Kania, S. Lalani, 2022, Brain : a journal of neurology.

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

Michael F. Wangler, A. Milosavljevic, J. Hacia, 2022, Scientific 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.

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.

METABOLIC DISORDERS

L. Burrage, R. Marom, 1965 .

RUNX2 and Cleidocranial Dysplasia

L. Burrage, Yangjin Bae, D. Napierala, 2016 .

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.

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

David R. Murdock, J. Rosenfeld, T. Schedl, 2022, Proceedings of the National Academy of Sciences.

Untargeted Metabolomic Profiling Reveals Multiple Pathway Perturbations and New Clinical Biomarkers in Urea Cycle Disorders

Aleksandar Milosavljevic, William Craigen, Lillian Thistlethwaite, 2019, Genetics in Medicine.

Heterozygous variants in SPTBN1 cause intellectual disability and autism

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

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

W. Craigen, V. Sutton, B. Graham, 2015, Molecular genetics and metabolism.

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

A. Breman, Ankita Patel, Dana Marafi, 2019, European journal of medical genetics.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Increased Mitochondrial Oxidative Phosphorylation in the Liver Is Associated With Obesity and Insulin Resistance

Joseph H Nadeau, Paola Solinas, L. Burrage, 2011, Obesity.

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.

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.

Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations

R. P. Guillerman, L. Burrage, J. Heinle, 2021, Pediatric pulmonology.

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.

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

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

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.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

Alyssa A. Tran, R. Gibbs, Mahim Jain, 2016, American journal of medical genetics. Part A.

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Runjun D. Kumar, L. Burrage, S. Nagamani, 2021, Molecular genetics and metabolism reports.

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.

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, J. Wiszniewska, S. Cheung, 2013 .

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.

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

J. Mendell, C. Scharfe, T. Yu, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

M. Tuchman, M. Baumgartner, S. Waisbren, 2021, Human Genetics.

Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance

Denise G. Lanza, Jason D. Heaney, B. Dawson, 2023, Disease models & mechanisms.

Anovel de novo intronic variant in ITPR1 causes Gillespie syndrome

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

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2010 .

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2013 .

Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials

Jonathan E. Dickerson, R. Collins, M. Nalls, 2011, The Lancet.

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.

Supplementary Webappendix

Jonathan E. Dickerson, L. Holmberg, R. Hennekam, 2022 .

Supplementary webappendix

Jonathan E. Dickerson, V. Beral, R. Hennekam, 2018 .

Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression

R. Pautler, L. Burrage, S. Nagamani, 2023, JCI insight.