J. Willner

发表

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

S. Chanock, P. Lansdorp, S. Savage, 2007, Blood.

identifies patients with dyskeratosis congenita Very short telomere length by flow fluorescence in situ hybridization

S. Chanock, P. Lansdorp, S. Savage, 2011 .

Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.

B. Gelb, R. Desnick, A. Verloes, 1998, American journal of human genetics.

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

B. Gelb, F. Santorelli, D. Wolfe, 1994, American journal of medical genetics.

Paternal uniparental disomy for chromosome 14: a case report and review.

K. Hirschhorn, J. Willner, S. Kaffe, 1997, American journal of medical genetics.

Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19.

R. Desnick, A. Babu, J. Willner, 1997, American journal of medical genetics.

Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome.

J. Willner, J. Zhang, B. Gelb, 1999, American journal of medical genetics.

Duchenne carriers

J. Willner, M. Somer, H. Somer, 1980, Neurology.

Prenatal diagnosis of fragile X syndrome

K. Davies, W. Brown, F. Rousseau, 1991, The Lancet.

Infantile systemic hyalinosis.

S. Orlow, A. Paller, G. Hoganson, 2004, Journal of the American Academy of Dermatology.

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

A. Kolevzon, L. Soorya, J. Buxbaum, 2013, Molecular Autism.

Analysis of a purported SHANK3 mutation in a boy with autism: Clinical impact of rare variant research in neurodevelopmental disabilities

A. Kolevzon, L. Soorya, A. Tryfon, 2011, Brain Research.

Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia

R. Desnick, R. Gordon, J. Willner, 1981, Neurology.

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

Karen B Avraham, Harry Ostrer, Carole Oddoux, 2003, The New England journal of medicine.

Prenatal diagnosis of trisomy 4 mosaicism.

J. Willner, D. Blumenthal, J. Fox, 2000, American journal of medical genetics.

Prenatal diagnosis and outcomes of five cases of mosaicism for an isochromosome of 20q

M. Evans, J. Willner, M. Mahoney, 1991, Prenatal diagnosis.

Congenital myotonic dystrophy: An often unsuspected cause of severe polyhydramnios

R. Berkowitz, U. Chitkara, J. Willner, 1991, Prenatal diagnosis.

Genetic evaluation and counseling in head and neck syndromes.

J. Willner, 2000, Otolaryngologic clinics of North America.

Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements.

R. Desnick, M. Caggana, A. Babu, 1996, American journal of medical genetics.

Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3

S. Tsang, R. Gentile, J. Willner, 2010, Ophthalmic genetics.

THE 7p PARTIAL TRISOMY SYNDROME

K. Hirschhorn, J. Willner, L. Hsu, 1977, Pediatric Research.

Genetic testing: a physician's perspective.

J. Willner, J D Menasha, C Schechter, 2000, The Mount Sinai journal of medicine, New York.

Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin.

R. Desnick, P. Ashton-Prolla, R. Zinberg, 1997, American journal of medical genetics.

DIFFUSE CHOROIDAL ATROPHY AND KLINEFELTER SYNDROME

J. Mindel, J. Willner, A. Atkin, 1983, Acta ophthalmologica.

Congenital abnormalities (VATER) in baby born to mother using lovastatin

S. Sicherer, J. Willner, Alessandro Ghidin, 1992, The Lancet.

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.

S. Dimauro, E. Schon, Yingying Tang, 2002, American Journal of Human Genetics.

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

R. Desnick, A. Griffith, T. Friedman, 2003, Journal of medical genetics.

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

C. Walsh, Ming-Hui Chen, S. Robertson, 2005, Neurology.

Prenatal detection of monosomy 21 mosaicism

C. Lockwood, A. Ghidini, J. Willner, 1993, Prenatal diagnosis.

Idiopathic diabetes insipidus occurring in a patient with Turner's syndrome.

J. Willner, R. Hoffman, M. Balkin, 1978, The Mount Sinai journal of medicine, New York.

Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth‐retarded male: mos47,XXY/48,XXY, + r(X)

R. Desnick, A. Babu, J. Willner, 1997, Clinical genetics.

Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases.

R. Desnick, M. Caggana, A. Babu, 1997, Annales de genetique.

6-Mercaptopurine teratogenicity

D. Tegay, J. Willner, R. Tepper, 2002, Postgraduate medical journal.

Spastic quadriparesis due to C1-C2 subluxation in Hurler syndrome.

K. Hirschhorn, L. Godmilow, J. Willner, 1978, The Journal of pediatrics.

Nemaline (rod) myopathy: Thexs need for histochemical evaluation of affected families

J. Willner, A. Bender, Judith P. Willner, 1978, Annals of neurology.