J. Bernat

发表

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

R. Pfundt, S. Robertson, D. Wieczorek, 2017, American journal of human genetics.

Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS).

M. Daly, E. H. Margulies, T. Wolfsberg, 2005, Genome research.

Genotype–phenotype correlations in individuals with pathogenic RERE variants

Donna M. Martin, J. Rosenfeld, N. Boddaert, 2018, Human mutation.

Presacral neuroendocrine tumors associated with the Currarino syndrome

D. Metz, T. Braun, A. Bellizzi, 2021, American journal of medical genetics. Part A.

Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy

J. Bernat, R. Rahhal, Lisa Dillon Bell, 2022, Gastroenterology research.

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

N. Longo, R. Pathak, Helio F. Pedro, 2022, Molecular genetics and metabolism.

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex

R. Kaufman, D. Ginsburg, S. Pipe, 2003, Nature Genetics.

Niemann-Pick disease type C presenting as very early onset inflammatory bowel disease

J. Bernat, Chinenye R. Dike, Catherine DeGeeter, 2019, BMJ Case Reports.

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

N. Brown, A. Toutain, M. Shinawi, 2021, Human molecular genetics.

Genotype-phenotype correlation at codon 1740 of SETD2.

A. Radmanesh, I. Glass, J. Hurst, 2020, American journal of medical genetics. Part A.

Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs.

Aleksey Y Ogurtsov, Francis S Collins, Alexey S Kondrashov, 2006, Human molecular genetics.

Heterochromatin protein 2 (HP2), a partner of HP1 in Drosophila heterochromatin

S. Elgin, Brandi A. Thompson, C. Shaffer, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Interstitial lung disease of infancy caused by a new NKX2‐1 mutation

Ayesha Ahmad, C. Keegan, J. Bernat, 2017, Clinical case reports.

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

Ankita Patel, S. Lalani, D. M. Martin, 2015, American journal of medical genetics. Part A.

ipt Recurrent Deletions and Duplications of Chromosome 2 q 11 . 2 and 2 q 13 are Associated with Variable Outcomes

Donna M. Martin, Ankita Patel, S. Lalani, 2015 .

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)

N. Mulder, E. Tobias, B. Korf, 2021, Genetics in Medicine.

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.

M. Russell, J. Bernat, J. Innis, 2014, Human molecular genetics.

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

Donna M. Martin, Ayesha Ahmad, M. Hannibal, 2019, Pediatric Research.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Donna M. Martin, D. Nickerson, M. Bamshad, 2017, Genetics in Medicine.

Breast fibroadenomas in the pediatric population: common and uncommon sonographic findings

J. Bernat, M. DiPietro, A. Joe, 2010, Pediatric Radiology.

massively parallel signature sequencing (MPSS) Genome-wide mapping of DNase hypersensitive sites using

M. Daly, T. Wolfsberg, S. Luo, 2006 .

Nager's acrofacial dysostosis. Case report and review of the literature.

L. Brodsky, J. Bernat, R. Perry, 1990, International journal of pediatric otorhinolaryngology.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Donna M. Martin, D. Nickerson, M. Bamshad, 2017, Genetics in Medicine.