R. Wallerstein

发表

Exclusion of APC and VHL gene deletions by array-based comparative hybridization in two patients with microscopically visible chromosomal aberrations.

R. Kurvathi, D. Streck, G. Toruner, 2007, Cancer genetics and cytogenetics.

Turner syndrome phenotype with 47,XXX karyotype: Further investigation warranted?

J. Aisenberg, J. Tepperberg, J. McCarrier, 2004, American journal of medical genetics. Part A.

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

R. Hennekam, G. van Ommen, C. V. van Karnebeek, 2000, Journal of medical genetics.

Diagnostic analysis of th Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations Petrij,

R. Hennekam, A. Haeringen, C. Karnebeek, 2000 .

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

D. Nickerson, M. Bamshad, D. Krakow, 2017, Cilia.

Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

Henry J. Lin, M. Silka, R. Chang, 2014, The Journal of pediatrics.

Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non‐chromosomal, non‐syndromic alobar holoprosencephaly

R. Wallerstein, M. Garabedian, A. Quintana, 2014, American journal of medical genetics. Part A.

Fetal arthrogryposis and maternal serum antibodies

H. Stewart, A. Vincent, L. Clover, 2006, Neuromuscular Disorders.

Congenital diaphragmatic hernia and ipsilateral limb reduction defect: a new case, long-term follow-up and review of the literature.

F. Desposito, R. Wallerstein, D. Wallerstein, 1997, Clinical dysmorphology.

Long‐term survival with diaphanospondylodysostosis (DSD): Survival to 5 years and further phenotypic characteristics

R. Kirpekar, Cathy Angell, R. Wallerstein, 2012, American journal of medical genetics. Part A.

A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting

R. Wallerstein, M. Garabedian, Andrea Jelks, 2014, Journal of pregnancy.

Expansion of the ARX spectrum

M. Friez, R. Wallerstein, R. Sugalski, 2008, Clinical Neurology and Neurosurgery.

Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness.

V. Umpaichitra, R. Wallerstein, S. Castells, 2002, Clinical dysmorphology.

Novel Mutation in Cytochrome P450c17 Causes Complete Combined 17α-Hydroxylase/17,20-Lyase Deficiency

R. Auchus, S. Ten, A. Bhangoo, 2008, Journal of pediatric endocrinology & metabolism : JPEM.

A new case of Grange syndrome without cardiac findings

A. Augustyn, R. Wallerstein, V. Johnson, 2006, American journal of medical genetics. Part A.

Rubinstein-Taybi syndrome and hypoplastic left heart.

D. Hanauer, R. Wallerstein, M. Argilla, 2002, American journal of medical genetics.

Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome.

L. Jackson, R. Wallerstein, J. Hoyer, 1997, American journal of medical genetics.

Maternal uniparental disomy of chromosome 16 and body stalk anomaly.

R. Wapner, N. Silverman, L. Jackson, 2000, American journal of medical genetics.

Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

R. Wallerstein, M. Garabedian, James Byrne, 2012, Case reports in genetics.

Diagnosis of a complex chromosomal rearrangement using fluorescent in situ hybridisation.

L. Jackson, R. Wallerstein, C. Anderson, 1996, Journal of medical genetics.

Pregnancy outcome in a woman with prune belly syndrome

R. Wallerstein, M. Garabedian, R. Hillman, 2012, BMJ Case Reports.

Familial Congenital Bilateral Vocal Fold Paralysis ‐ A Novel Gene Translocation

D. Rosow, R. Wallerstein, S. Rickert, 2009 .

Familial Congenital Bilateral Vocal Fold Paralysis ‐ A Novel Gene Translocation

R. Wallerstein, S. Rickert, M. April, 2009 .

Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region

J. Sum, R. Wallerstein, G. Kellogg, 2013, American journal of medical genetics. Part A.

Mutation analysis of B3GALTL in Peters Plus syndrome

J. Hoffman, O. Abdul-Rahman, Aneal Khan, 2008, American journal of medical genetics. Part A.

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.

Robinow syndrome with developmental brain dysplasia.

H. Ostrer, E. Guillén-Navarro, R. Wallerstein, 1997, American journal of medical genetics.

Copy number variations in three children with sudden infant death

R. Tozzi, L. Shulman, R. Kurvathi, 2009, Clinical Genetics.

Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations

R. Wallerstein, S. Misra, M. Garabedian, 2015, Prenatal diagnosis.

Long term follow‐up of developmental delay in a child with prenatally‐diagnosed trisomy 20 mosaicism

B. Pletcher, Helio F. Pedro, H. Aviv, 2005, American journal of medical genetics. Part A.

Mosaic paternal genome‐wide uniparental isodisomy with down syndrome

P. Atwal, Cathy Angell, R. Wallerstein, 2015, American journal of medical genetics. Part A.

Partial trisomy 11q in a female infant with Robin sequence and congenital heart disease.

F. Desposito, H. Aviv, R. Wallerstein, 1992, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Outcome of prenatally diagnosed trisomy 6 mosaicism

H. Aviv, R. Wallerstein, T. Oh, 2002, Prenatal diagnosis.

Low frequency of monosomy 20 mosaicism in a liveborn infant with minor dysmorphic features

R. Wallerstein, C. Watkins, D. Wallerstein, 1991, The Lancet.

Lateral meningocele syndrome: three new patients and review of the literature.

E. Zackai, A. Duhaime, S. Zderic, 1997, American journal of medical genetics.

Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

L. Jackson, R. Wallerstein, B. Hay, 1997, Journal of medical genetics.

Factors in decision making following genetic counseling for pre‐natal diagnosis of de novo chromosomal rearrangements

J. McCarrier, R. Wallerstein, A. Bar-Lev, 2006, Clinical genetics.

Characteristics of Orofacial Clefting in Hawai'i.

R. Wallerstein, J. Tarnowski, Lily Hoffman-Andrews, 2019, Hawai'i journal of health & social welfare.

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features

W. Chung, A. Fatemi, S. Srivastava, 2017, Clinical Genetics.

Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

J. Sum, R. Wallerstein, D. Wallerstein, 2015, Case reports in genetics.

Dubowitz syndrome in a boy without developmental delay: further evidence for phenotypic variability.

L. Jackson, R. Wallerstein, C. Anderson, 1997, American journal of medical genetics.

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.

J. Seidman, M. Bamshad, L. Jorde, 1999, American journal of human genetics.

Carrier screening for Gaucher disease in couples of mixed ethnicity.

R. Wallerstein, V. Jansen, A. Starkman, 2001, Genetic testing.

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

R. Wallerstein, D. Darcy, Scott Rosenthal, 2011, Case reports in genetics.

Preconception care for women with diabetes and prevention of major congenital malformations.

A. Correa, J. Kitzmiller, R. Wallerstein, 2010, Birth defects research. Part A, Clinical and molecular teratology.

Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

J. Sum, Kristen Dilzell, R. Wallerstein, 2015, Case reports in genetics.

Vascular malformations and upper extremity anomalies associated with a subtelomeric microdeletion of chromosome 4p.

R. Khonsari, F. Blei, R. Wallerstein, 2008, Clinical Dysmorphology.

Coincidence of Multiple Endocrine Neoplasia Type IIa and Type 1 Diabetes Mellitus

J. Aisenberg, R. Wallerstein, M. Schwartz, 2005, Journal of pediatric endocrinology & metabolism : JPEM.

The Role of Pediatricians in Families with a History of Familial Adenomatous Polyposis

A. Augustyn, R. Wallerstein, 2009, Clinical pediatrics.

Chondrodysplasia punctata, tibial‐metacarpal type in a 16 week fetus.

A. Rebarber, N. Genieser, R. Wallerstein, 2000, Journal of ultrasound in medicine.

Fetus with a de novo supernumerary marker chromosome 16 and a Dandy–Walker malformation detected on ultrasound

H. Aviv, R. Wallerstein, Robin B Wolf, 2005, Prenatal diagnosis.

Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome.

C. Scott, L. Nicholson, R. Wallerstein, 1997, American journal of medical genetics.

Research Letter Rubinstein-Taybi Syndrome and Hypoplastic Left Heart

R. Wallerstein, Joseph M. Sanzari, 2002 .

Cystic fibrosis carrier screening practices in an ethnically diverse region: experience of the Genetic Network of the Empire State, Puerto Rico, and the U.S. Virgin Islands.

K. Pass, R. Wallerstein, E. Schwind, 1999, Genetic testing.

A retrospective survey of community based utilization of Tay Sachs screening in Eight New Jersey counties

R. Wallerstein, L. Shih, Kapila Seshadri, 1994, Journal of Genetic Counseling.

Acute Rhabdomyolysis in a Child with Multiple Suspicious Gene Variants

Rhiana Lau, R. Wallerstein, P. Purohit, 2022, Case reports in pediatrics.

Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant.

R. Wallerstein, G. Hirata, Lila Aiyar, 2019, Clinical dysmorphology.

A new case of MOMO syndrome

R. Wallerstein, R. Sugalski, 2010, Clinical dysmorphology.

Familial congenital bilateral vocal fold paralysis: a novel gene translocation.

D. Rosow, R. Wallerstein, M. April, 2015, International journal of pediatric otorhinolaryngology.

Microdeletion of Chromosome 15q24.3–25.2 and Orofacial Clefting

S. Gunn, Dongli Song, Balaji Govindaswami, 2011, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.