Publications by authors named "Rena Falk"

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Management of the risks for inherited disease in donor-conceived offspring.
Lauren Isley, Rena E Falk, Jaime Shamonki, Charles A Sims, Pamela Callum

Fertil Steril· November 2016

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Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.
Gene S Fisch, Rena E Falk, John C Carey, Jaime Imitola, Maria Sederberg

Am J Med Genet A· September 2016

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Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, Brett H Graham, Marina Szlago, Rena E Falk

J Med Genet· June 2016

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ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Hiromi Hirata, Indrajit Nanda, Anne van Riesen, Gai McMichael, Hao Hu, Rena Falk

Am J Hum Genet· May 2013

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Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.
Gene S Fisch, Paul Grossfeld, Rena Falk, Agatino Battaglia, Janey Youngblom

Am J Med Genet C Semin Med Genet· November 2010

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Outcome and experience of implementing spinal muscular atrophy carrier screening on sperm donors.
Pamela Callum, Jennifer Iger, Marilyn Ray, Charles A Sims, Rena E Falk

Fertil Steril· October 2010

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Genetic testing of sperm donors: survey of current practices.
Charles A Sims, Pamela Callum, Marilyn Ray, Jennifer Iger, Rena E Falk

Fertil Steril· June 2010

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Spinal muscular atrophy (SMA) after conception using gametes from anonymous donors: recommendations for the future.
Pamela Callum, Maria Teresa Urbina, Rena E Falk, Jorge A Alvarez-Diaz, Isaac Benjamin

Fertil Steril· February 2010

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A patient with TCIRG1-related infantile osteopetrosis presenting with congenital anomalies: chance association or a case for pleiotropy?
Robert L Conway, Rena E Falk

Am J Med Genet A· December 2007

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Chromosome 2q37 deletion: clinical and molecular aspects.
Rena E Falk, Kari A Casas

Am J Med Genet C Semin Med Genet· November 2007

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Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.
Karmen M Trzupek, Rena E Falk, Joseph L Demer, Richard G Weleber

Am J Med Genet A· June 2007

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Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients.
Michelle S Miller, P Nagesh Rao, Rebecca N Dudovitz, Rena E Falk

Am J Med Genet A· December 2005

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Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.
Kari A Casas, Tarja K Mononen, Claudia N Mikail, Susan J Hassed, Shibo Li, Rena E Falk

Am J Med Genet A· November 2004

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Quality of life related to visual function in three young adults with mucopolysaccharidoses.
Katherine L Bergwerk, Yaron S Rabinowitz, Rena E Falk

ScientificWorldJournal· October 2003

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