N. Shur

发表

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Donna M. Martin, B. Coe, J. Rosenfeld, 2012, The New England journal of medicine.

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Matthew J. Nichols, J. Kurtzberg, P. Galvin-Parton, 2016, Genetics in Medicine.

Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis

N. Ah Mew, N. Shur, D. Regier, 2020, American journal of medical genetics. Part A.

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene

S. Gunn, E. Morrow, N. Shur, 2012, American journal of medical genetics. Part A.

Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.

B. Schweighardt, K. Larimore, N. Longo, 2018, Molecular genetics and metabolism.

Genetic causes of fractures and subdural hematomas: fact versus fiction

Tanya S. Hinds, B. McIntosh, N. Shur, 2021, Pediatric Radiology.

Medical genetics, expert medical testimony, and suspected child abuse cases: a call for evidence-based standards in clinic and the courtroom.

N. Robin, N. Shur, Natasha E. Shur, 2020, Current opinion in pediatrics.

Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule

B. Tinkle, M. Summar, B. McIntosh, 2019, American journal of medical genetics. Part A.

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

J. Rosenfeld, Hyung-Goo Kim, T. Haaf, 2022, Human mutation.

Acute Liver Failure During Deferasirox Chelation: A Toxicity Worth Considering

N. Shur, A. Nepo, M. Hickling, 2017, Journal of pediatric hematology/oncology.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations

N. Shur, D. Regier, Rebecca A. Hicks, 2020, American journal of medical genetics. Part A.

The role of new genetic technology in investigating autism and developmental delay.

S. Gunn, N. Shur, A. Oh, 2011, Medicine and health, Rhode Island.

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation

B. L. de Groot, R. Ganetzky, J. Vockley, 2019, Human mutation.

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

G. Raymond, J. Orsini, M. Caggana, 2015, Molecular genetics and metabolism.

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

Nasim Vasli, Jocelyn Laporte, Alan H Beggs, 2013, Neurology.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

S. Mane, I. So, Hee-Jung Choi, 2017, Annals of neurology.

Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein

C. Phornphutkul, E. Morrow, B. Jerskey, 2014, Journal of Medical Genetics.

Risk assessment models in genetics clinic for array comparative genomic hybridization: Clinical information can be used to predict the likelihood of an abnormal result in patients

E. Morrow, N. Shur, Richard J Doyle, 2013, Journal of Pediatric Genetics.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

J. Rosenfeld, H. Mefford, E. Eichler, 2011, Journal of Medical Genetics.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

W. Chung, Yvonne W Wu, D. Petrey, 2015, neurogenetics.

Genetic syndromes: from clinical suspicion to referral to diagnosis.

N. Shur, D. Abuelo, Natasha E. Shur, 2009, Pediatric annals.

Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse

D. Bulas, B. Tinkle, Tanya S. Hinds, 2019, American journal of medical genetics. Part A.

Genetic differentials of child abuse: Is your case rare or real?

N. Shur, J. C. Carey, Natasha E. Shur, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

Case 168: rhabdoid predisposition syndrome--familial cancer syndromes in children.

G. Tung, J. Donahue, N. Shur, 2011, Radiology.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

R. Pfundt, A. Wilkie, K. Gripp, 2021, Human mutation.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

D. Schneidman-Duhovny, S. Dunwoodie, N. Pachter, 2017, Human molecular genetics.

Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis

C. Ferreira, N. Shur, Firas Alqarajeh, 2019, Translational science of rare diseases.

Ehlers–Danlos syndrome: what the radiologist needs to know

Jeannette M. Perez-Rossello, N. Shur, Michael P. George, 2021, Pediatric Radiology.

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15‐22.1

P. Wheeler, J. Cowan, N. Shur, 2003, American journal of medical genetics. Part A.

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

Mahshid S. Azamian, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

The genetics of twinning: From splitting eggs to breaking paradigms

N. Shur, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p

G. B. Schaefer, A. Garnica, N. Shur, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

Specific Congenital Metabolic Diseases

N. Shur, A. Rios, 2020, Neonatology.

15q24 microdeletion syndrome

J. Rosenfeld, H. Mefford, N. Shur, 2012 .

A surprising postnatal diagnosis.

N. Shur, S. Gross, R. Marion, 2006, Obstetrics and gynecology.

A Symposium on the Clinic of the Future and Telehealth: Highlights and Future Directions

N. Shur, Kevin Cleary, S. Atabaki, 2021, Cureus.

Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers

N. Shur, E. Macleod, D. Regier, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19

M. Summar, N. Shur, S. Atabaki, 2020, American journal of medical genetics. Part A.

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

P. Jayakar, J. Vockley, G. Diaz, 2023, Molecular genetics and metabolism.

The clinical geneticist and the evaluation of failure to thrive versus failure to feed

N. Shur, N. Allmendinger, Kayt D Marra, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications

N. Shur, A. Oh, Lauren K. Salinero, 2020, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

From new screens to discovered genes: The successful past and promising present of single gene disorders

N. Shur, A. Roe, Natasha E. Shur, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

Genetic consultations in cases of unexplained fractures and haemorrhage: an evidence-based approach

N. Robin, Tanya S. Hinds, N. Shur, 2020, Current opinion in pediatrics.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.