A. Blumenfeld

A. Blumenfeld, Z. Ne'eman, A. Rosenmann, 1999, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Refractive profile in oculocutaneous albinism and its correlation with final visual outcome

Dalia Eli, A. Blumenfeld, A. Rosenmann, 2011, British Journal of Ophthalmology.

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families

L. Mizrahi-Meissonnier, Dalia Eli, A. Blumenfeld, 2009, Prenatal diagnosis.

Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family

D. Sharon, A. Blumenfeld, Claudia Yahalom, 2015, Ophthalmic genetics.

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

J. Haines, J. Gusella, X. Breakefield, 1993, Nature Genetics.

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

A. Fulton, N. Schalij-Delfos, O. Birk, 2022, Investigative ophthalmology & visual science.

Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease

M. Macarov, G. Altarescu, T. Imbar, 2018, Ophthalmic genetics.

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients

D. Sharon, S. Kohl, E. Banin, 2021, Molecular vision.

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

A. J. Roman, A. Cideciyan, S. Schwartz, 2015, Ophthalmology.

Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.

J. Gusella, C. Robbins, I. Makałowska, 1999, Genomics.

Exclusion of familial dysautonomia from more than 60% of the genome.

J. Haines, X. Breakefield, S. Slaugenhaupt, 1993, Journal of medical genetics.

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

M. King, Ming K. Lee, C. Morton, 1998, Science.

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra‐ocular features

B. J. Klevering, F. Riemslag, C. Hoyng, 2015, Acta ophthalmologica.

Hereditary inclusion body myopathy maps to chromosome 9p1-q1.

J. Seidman, C. Seidman, S. Mitrani‐Rosenbaum, 1996, Human molecular genetics.

Peripherin gene is linked to keratin 18 gene on human chromosome 12

J. Haines, T. Lerner, J. Gusella, 1995, Somatic cell and molecular genetics.

Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.

J. Gusella, C. Eng, R. Desnick, 1995, American journal of medical genetics.

Localization, quantification, and characterization of tuftelin in soft tissues

B. Shay, Y. Leiser, D. Deutsch, 2007, Anatomical record.

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.

S. Jacobson, D. Sharon, Z. Guan, 2017, Ophthalmology.

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

A. Swaroop, D. Sharon, E. Banin, 2016, Investigative ophthalmology & visual science.

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

I. Chowers, S. Jacobson, A. Swaroop, 2015, Scientific Reports.

An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers

D. Sharon, V. Meiner, I. Audo, 2019, Ophthalmic genetics.

The C677T Mutation in the Methylenetetrahydrofolate Reductase (MTHFR) Gene and Vascular Dementia

M. Idelson, R. D. Pollak, A. Blumenfeld, 2000, Journal of the American Geriatrics Society.

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

D. Sharon, E. Pras, E. Banin, 2018, European Journal of Human Genetics.

Association of oestrogen receptor alpha gene polymorphism with the angiographic extent of coronary artery disease.

A. Rokach, A. Pollak, A. Blumenfeld, 2004, European heart journal.

Fetal inherited thrombophilias influence the severity of preeclampsia, IUGR and placental abruption.

D. Valsky, E. Anteby, A. Milwidsky, 2004, European journal of obstetrics, gynecology, and reproductive biology.

The induction of tuftelin expression in PC12 cell line during hypoxia and NGF‐induced differentiation

P. Lazarovici, S. Lecht, B. Shay, 2011, Journal of cellular physiology.

The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene.

X. Breakefield, J. Mull, S. Slaugenhaupt, 1995, Genomics.

Estrogen receptor α gene polymorphisms are associated with the angiographic extent of coronary artery disease

Y. Friedlander, R. Dresner-Pollak, A. Rokach, 2005 .

[Localization of the familial dysautonomia gene to chromosome 9q31-33 and the development of a genetic test for the disease].

C. Maayan, F. Axelrod, A. Blumenfeld, 1995, Harefuah.

The BsmI Vitamin D Receptor Gene Polymorphism in Israeli Populations and in Perimenopausal and Osteoporotic Ashkenazi Women

M. Idelson, R. D. Pollak, A. Blumenfeld, 2001, American Journal of Nephrology.

Tuftelin Is Required for NGF-Induced Differentiation of PC12 Cells

Gadi Cohen, P. Lazarovici, D. Shilo, 2019, Journal of Molecular Neuroscience.

Prenatal diagnostic testing for familial dysautonomia using linked genetic markers

H. Ostrer, S. Slaugenhaupt, C. Oddoux, 1995, Prenatal diagnosis.

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

D. Sharon, E. Pras, E. Banin, 2018, European Journal of Human Genetics.

Ethnic differences in the frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in healthy Israeli populations.

Y. Friedlander, M. Idelson, R. D. Pollak, 2000, Genetic testing.

A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.

J. Bonifas, E. Epstein, A. Blumenfeld, 1993, Human molecular genetics.

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics

W. Westbroek, M. Huizing, Y. Anikster, 2006, Human mutation.

Regeneration of grade 3 ankle sprain, using the recombinant human amelogenin protein (rHAM+) in a rat model

M. Liebergall, O. Shoseyov, A. Rivkin, 2020, Journal of orthopaedic research : official publication of the Orthopaedic Research Society.

Amelogenin in cranio-facial development: the tooth as a model to study the role of amelogenin during embryogenesis.

P. Sharpe, A. Ornoy, B. Shay, 2009, Journal of experimental zoology. Part B, Molecular and developmental evolution.