R. Marom

发表

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

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

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2021, bioRxiv.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Michael F. Wangler, Katerina O. Wells, E. Roeder, 2019, Human mutation.

Pharmacological and biological therapeutic strategies for osteogenesis imperfecta

Brendan H. Lee, R. Marom, I. Grafe, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

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.

Using topical benzocaine before lingual frenotomy did not reduce crying and should be discouraged

S. Dollberg, R. Marom, E. Botzer, 2014, Acta paediatrica.

Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension

D. Nickerson, M. Bamshad, D. Saunders, 2016, Clinical genetics.

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

D. Goldstein, A. Allen, T. Strom, 2018, The EMBO journal.

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.

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.

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.

MANAGEMENT OF ENDOCRINE DISEASE: Osteogenesis imperfecta: an update on clinical features and therapies.

R. Marom, R. Morello, Brien M. Rabenhorst, 2020, European journal of endocrinology.

A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of the IFITM5 Mutation

B. Dawson, Brendan H. Lee, D. Eyre, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

Baralle, A. V. Vulto-van Silfhout, L. Vissers, 2022, medRxiv.

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.

A Somnolent Neonate With Hypothermia and Posturing

R. Marom, K. Glinton, S. Kaushal, 2020, Clinical pediatrics.

Metabolic Disorders

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

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.

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.

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.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2022, Cell reports.

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.

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.

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.

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.

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.

Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing

V. Sutton, R. Marom, M. Almannai, 2016, Current opinion in pediatrics.

Unintentional oral beta agonist overdose: case report and review of the literature.

R. Marom, A. Rimon, D. Scolnik, 2011, American journal of therapeutics.

Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

J. Rosenfeld, K. Flanigan, K. Wierenga, 2019, Genetics in Medicine.

Osteogenesis imperfecta: advancements in genetics and treatment.

Brendan H. Lee, R. Marom, V. Rossi, 2019, Current opinion in pediatrics.

METABOLIC DISORDERS

L. Burrage, R. Marom, 1965 .

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.

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.

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.

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

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

The importance of a "heart-to-heart" conversation as part of emotional education in elementary schools

R. Marom, I. Albulescu, 2016 .

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.

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.

Osteogenesis imperfecta: advancements in genetics and treatment.

Brendan H. Lee, R. Marom, V. Rossi, 2019, Current opinion in pediatrics.

Barriers to a successful healthcare transition for individuals with urea cycle disorders.

W. Craigen, R. Marom, P. Magoulas, 2023, Molecular genetics and metabolism.

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2023, Nature 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.