J. Bergoffen

发表

Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chainl-3-hydroxyacyl-CoA dehydrogenase deficiency

P. Kaplan, M. Bennett, G. Berry, 1993, Journal of Inherited Metabolic Disease.

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

S. Aftimos, D. Higgs, G. Neri, 1997, Nature Genetics.

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Stephanie E. Vallee, R. Ekong, M. Wentink, 2011, Human mutation.

Comparison of Universal Versus Age-Restricted Screening of Colorectal Tumors for Lynch Syndrome Using Mismatch Repair Immunohistochemistry

U. Ladabaum, T. Levin, D. Corley, 2019, Annals of Internal Medicine.

Clinical and molecular characterization of patients with distal 11q deletions.

G. Evans, J. Graham, O. Jones, 1995, American journal of human genetics.

Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versus population-based registry.

V. Weinberg, T. Levin, J. Gum, 2002, Gastroenterology.

Connexin mutations in X-linked Charcot-Marie-Tooth disease.

K. Fischbeck, D. Paul, S. Scherer, 1993, Science.

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene

K. Keppler-Noreuil, J. Bergoffen, R. Wallerstein, 2003, Journal of medical genetics.

Human muscle acetylcholine receptor alpha-subunit gene (CHRNA1) association with autoimmune myasthenia gravis in black, mixed-ancestry and Caucasian subjects.

J. Newsom-Davis, N. Willcox, J. Bergoffen, 1996, Journal of autoimmunity.

Diaphragmatic hernia in tetrasomy 12p mosaicism.

E. Zackai, E. Ruchelli, J. Bergoffen, 1993, The Journal of pediatrics.

Clinical and Molecular Characterization of Patients with Distal I I q Deletions

G. Evans, J. Graham, J. Fryns, 2007 .

Paternal transmission of congenital myotonic dystrophy.

E. Zackai, K. Fischbeck, D. McDonald-McGinn, 1994, Journal of medical genetics.

Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting

E. Hoodfar, J. Bergoffen, Dan Li, 2020, Familial Cancer.

Linkage localization of X-linked Charcot-Marie-Tooth disease.

J. Haines, M. Pericak-Vance, K. Fischbeck, 1993, American journal of human genetics.

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

A. Monaco, K. Fischbeck, S. Cochrane, 1994, Journal of medical genetics.

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

J. J. Shepherd, D. Sillence, L. Mestroni, 1994, Journal of medical genetics.

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

C. Zweier, M. Villamar, M. Moreno-Pelayo, 2003 .