Publications by authors named "Libe Gradstein"

29Publications

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.

Clin Genet 2020 Sep 3;98(3):303-307. Epub 2020 Aug 3.

Saban Pediatric Medical Center for Israel, Soroka University Medical Center, Beer-Sheva, Israel.

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September 2020

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.

Am J Med Genet A 2020 06 31;182(6):1506-1512. Epub 2020 Mar 31.

Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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June 2020

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

Eur J Hum Genet 2019 06 5;27(6):928-940. Epub 2019 Feb 5.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, 84105, Beer Sheva, Israel.

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June 2019

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

Am J Med Genet A 2018 12 4;176(12):2695-2703. Epub 2018 Dec 4.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

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December 2018

mutation affects ER homeostasis, causing a neurological syndrome.

J Med Genet 2019 03 21;56(3):139-148. Epub 2018 Nov 21.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

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March 2019

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.

Brain 2017 Apr;140(4):928-939

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel.

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April 2017

Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.

Doc Ophthalmol 2017 04 31;134(2):135-140. Epub 2017 Jan 31.

Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave., Boston, MA, 02115-5737, USA.

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April 2017

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.

BMC Med Genet 2016 07 30;17(1):52. Epub 2016 Jul 30.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, 84105, Israel.

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July 2016

UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.

J Med Genet 2016 06 6;53(6):397-402. Epub 2015 Nov 6.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel Genetics Institute, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel.

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June 2016

CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.

Hum Mol Genet 2015 Nov 10;24(22):6485-91. Epub 2015 Sep 10.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University, Beer Sheva 84105, Israel, Genetics Institute, Soroka University Medical Center, Ben Gurion University, Beer Sheva 84101, Israel,

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November 2015

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.

Eur J Hum Genet 2015 Dec 12;23(12):1729-34. Epub 2014 Nov 12.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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December 2015

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

Eur J Hum Genet 2014 May 18;22(5):703-6. Epub 2013 Sep 18.

1] The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev, Ben-Gurion University, Beer-Sheva, Israel [2] Genetics Institute, Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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May 2014

High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.

Am J Hum Genet 2011 Sep 1;89(3):438-45. Epub 2011 Sep 1.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben Gurion University of the Negev, Beer-Sheva Israel.

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September 2011

Ocular motor ability and covert attention in patients with Duane Retraction Syndrome.

Neuropsychologia 2010 Aug 19;48(10):3102-9. Epub 2010 Jun 19.

Department of Psychology and Zlotowski Center for Neuroscience, Ben-Gurion University of the Negev, POB 653, 84105 Beer-Sheva, Israel.

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August 2010

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.

Invest Ophthalmol Vis Sci 2007 May;48(5):2208-13

The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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May 2007

Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult.

Arch Ophthalmol 2006 Jul;124(7):1048-51

National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

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July 2006

Eye movement abnormalities in hermansky-pudlak syndrome.

J AAPOS 2005 Aug;9(4):369-78

Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

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August 2005

Eye movements in chorea-acanthocytosis.

Invest Ophthalmol Vis Sci 2005 Jun;46(6):1979-87

Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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June 2005

Extended slow phase in latent/manifest latent nystagmus.

Invest Ophthalmol Vis Sci 2004 Apr;45(4):1139-48

Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892-1863, USA.

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April 2004

Functional visual loss in patients with bilateral ocular coloboma.

J AAPOS 2002 Jun;6(3):195-7

Department of Ophthalmology, Soroka Medical Center, The Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, Israel.

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June 2002