D. Earl

发表

Deformational brachycephaly in supine-sleeping infants.

J. Graham, J. Kreutzman, D. Earl, 2005, The Journal of pediatrics.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Management of deformational plagiocephaly: repositioning versus orthotic therapy.

Xiuqing Guo, J. Graham, J. Kreutzman, 2005, The Journal of pediatrics.

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

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

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

Karynne E. Patterson, Danny E. Miller, H. Mefford, 2020, bioRxiv.

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome

M. Bamshad, D. Milewicz, D. Earl, 2022, American journal of medical genetics. Part A.

Mutations in ECEL1 cause distal arthrogryposis type 5D.

Gloria R. Gogola, J. Shendure, H. Mefford, 2013, American journal of human genetics.

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation

D. Earl, F. Quintero-Rivera, M. Nowaczyk, 2021, Human Genetics.

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.

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Emily H Turner, J. Shendure, J. Swanson, 2013, American journal of human genetics.

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

H. Hakonarson, M. Bamshad, H. Firth, 2022, HGG advances.

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Renzo Guerrini, William B Dobyns, Dawn Earl, 2006, American journal of medical genetics. Part A.

Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf–Hirschhorn Syndrome

S. South, P. Hammond, M. Suttie, 2013, European Journal of Human Genetics.

Syndromic ear anomalies and renal ultrasounds.

J. Graham, D. Earl, J M Graham, 2001, Pediatrics.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Timothy J. Edwards, Ryan J. Dean, H. Peeters, 2018, American journal of human genetics.

Targeted long-read sequencing identifies missing disease-causing variation.

William H. Majoros, Karynne E. Patterson, Timothy E. Reddy, 2021, American journal of human genetics.

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.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

Defining the clinical phenotype of Saul-Wilson syndrome.

D. Earl, H. Freeze, W. Gahl, 2020, Genetics in Medicine.

Role of Pediatric Geneticists in Craniofacial Teams: The Identification of Craniofacial Conditions with Cancer Predisposition.

D. Earl, P. Sanchez-Lara, T. Wenger, 2016, The Journal of pediatrics.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation

D. Earl, F. Quintero-Rivera, A. Beck, 2021, Human Genetics.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

N. Guex, N. Brown, W. Chung, 2019, bioRxiv.

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

A. Battaglia, D. Earl, L. Bernardini, 2014, European Journal of Human Genetics.

Marden-Walker syndrome: case report and review

J. Graham, D. Earl, D. Schweitzer, 2000, Genetics in Medicine.

Defining the clinical phenotype of Saul-Wilson syndrome.

D. Earl, H. Freeze, W. Gahl, 2020, Genetics in Medicine.

Johnson–McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: Report of a new case

J. Graham, D. Earl, S. Yano, 2003, American journal of medical genetics. Part A.

Improving departmental faculty meetings: an analysis of one department's approach.

Maria M. Plummer, J. Graham, J. Kreutzman, 2005, The Journal of pediatrics.

Mutations in ECEL1 cause distal arthrogryposis type 5D.

Gloria R. Gogola, J. Shendure, H. Mefford, 2013, American journal of human genetics.