T. Jewett

发表

Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities

J. A. Arroyo, C. Coles, R. Xu, 2018, JAMA.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

W. Chung, K. Devriendt, Alison M. Male, 2020, Genetics in Medicine.

Toriello–Carey syndrome: Delineation and review

Marc S. Williams, E. Zackai, W. Newman, 2003, American journal of medical genetics. Part A.

Practical Genetics for the Neuroradiologist: Adding Value in Neurogenetic Disease.

J. Sachs, M. Zapadka, T. Jewett, 2021, Academic radiology.

Role of feeding and vitamin K in hypoprothrombinemia of the newborn.

T. Jewett, W. Keenan, H. Glueck, 1971, American journal of diseases of children.

Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: two new cases and review of the literature.

P. N. Rao, R. Grubs, M. Pettenati, 1996, American journal of medical genetics.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

A. Pagnamenta, J. Lupski, D. Misceo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Gaucher's disease: a case history with extensive lipid storage in the brain.

T. Jewett, F. Rancé, R. Shuman, 1985, American journal of clinical pathology.

Down syndrome due to a recombination of a chromosome 21 paracentric inversion in 1 of 2 cases with a review of paracentric recombinants

P. N. Rao, T. Jewett, M. Berry, 1994 .

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

L. Vissers, D. Wieczorek, D. Chitayat, 2019, Kidney international.

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Jun Z. Li, Catherine A. Collins, N. Brüggemann, 2018, Annals of neurology.

Fetal Alcohol Spectrum Disorders in a Southeastern County of the United States: Child Characteristics and Maternal Risk Traits.

B. Tabachnick, H. Hoyme, P. May, 2020, Alcoholism, clinical and experimental research.

Prenatal cocaine exposure and fetal vascular disruption.

H. Hoyme, K. Jones, L. Robinson, 1990, Pediatrics.

Jumping translocation with partial duplications and triplications of chromosomes 7 and 15

M. Pettenati, T. Jewett, K. Klinepeter, 1998, Clinical genetics.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

N. Boddaert, M. Reuter, P. Koty, 2014, Human Genetics.

Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence.

B. Tabachnick, H. Hoyme, P. May, 2020, Alcoholism, clinical and experimental research.

Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders

C. Coles, E. Riley, H. Hoyme, 2016, Pediatrics.

1q21.1 Recurrent Microdeletion

C. Haldeman-Englert, T. Jewett, 2015 .

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.

Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia.

R. Williamson, T. Jewett, M. Greally, 1993, American journal of medical genetics.

De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development

H. Ostrer, A. Pearlman, T. Jewett, 2010, American journal of medical genetics. Part A.

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2021, Human mutation.

Estimating the community prevalence, child traits, and maternal risk factors of fetal alcohol spectrum disorders (FASD) from a random sample of school children.

H. Hoyme, P. May, David Buckley, 2021, Drug and alcohol dependence.

Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence.

B. Tabachnick, H. Hoyme, P. May, 2020, Alcoholism, clinical and experimental research.

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

D. Milewicz, J. Grossfield, C. Kielty, 1995, The Journal of clinical investigation.

Velocardiofacial syndrome: incidence of immune cytopenias.

T. Jewett, W. Mcguirt, M. Fasano, 2000, Archives of otolaryngology--head & neck surgery.

Adenocarcinoma and polyposis of the colon in a 20-year-old patient with Trisomy 13: a case report

T. Jewett, Kristen A. Zeller, Michael B. Huck, 2018, Journal of Medical Case Reports.

Characteristic physical traits of first‐grade children in the United States with fetal alcohol spectrum disorders (FASD) and associated alcohol and drug exposures

H. Hoyme, P. May, David Buckley, 2022, American journal of medical genetics. Part A.

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.

P. N. Rao, M. Pettenati, T. Jewett, 1993, American journal of medical genetics.

Juvenile muscular atrophy of the distal upper extremities associated with x‐linked periventricular heterotopia with features of Ehlers‐Danlos syndrome

J. Caress, T. Jewett, Megan Mortenson, 2016, Muscle & nerve.

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

N. Boddaert, M. Reuter, P. Koty, 2014, Human Genetics.