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Items: 1 to 20 of 61

1.

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

Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk OS.

Eur J Hum Genet. 2019 Feb 5. doi: 10.1038/s41431-019-0347-z. [Epub ahead of print]

PMID:
30723319
2.

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.

Perez Y, Bar-Yaacov R, Kadir R, Wormser O, Shelef I, Birk OS, Flusser H, Birnbaum RY.

Brain. 2019 Jan 30. doi: 10.1093/brain/awz004. [Epub ahead of print]

PMID:
30715179
3.

Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel.

Drabkin M, Zilberberg N, Menahem S, Mulla W, Halperin D, Yogev Y, Wormser O, Perez Y, Kadir R, Etzion Y, Katz A, Birk OS.

Circ Genom Precis Med. 2018 Nov;11(11):e002293. doi: 10.1161/CIRCGEN.118.002293.

PMID:
30571183
4.

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

Wormser O, Gradstein L, Kadar E, Yogev Y, Perez Y, Mashkit E, Elbedour K, Drabkin M, Markus B, Kadir R, Halperin D, Khalaila S, Levy J, Lifshitz T, Manor E, Birk OS.

Am J Med Genet A. 2018 Dec;176(12):2695-2703. doi: 10.1002/ajmg.a.40668. Epub 2018 Dec 4.

PMID:
30513137
5.

SEC31A mutation affects ER homeostasis, causing neurological syndrome.

Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS.

J Med Genet. 2018 Nov 21. pii: jmedgenet-2018-105503. doi: 10.1136/jmedgenet-2018-105503. [Epub ahead of print]

PMID:
30464055
6.

Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations.

Mijalovsky A, Halperin D, Perez Y, Zafarov B, Shaco-Levy R, Kapelushnik J, Flusser H, Birk OS.

J Pediatr Hematol Oncol. 2018 Nov;40(8):e511-e515. doi: 10.1097/MPH.0000000000001294.

PMID:
30124550
7.

Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred.

Drabkin M, Birk OS, Birk R.

BMC Med Genet. 2018 Aug 2;19(1):135. doi: 10.1186/s12881-018-0654-1.

8.

RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.

Perez Y, Menascu S, Cohen I, Kadir R, Basha O, Shorer Z, Romi H, Meiri G, Rabinski T, Ofir R, Yeger-Lotem E, Birk OS.

Brain. 2018 Apr 1;141(4):961-970. doi: 10.1093/brain/awy045.

PMID:
29522154
9.

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, Birk OS.

Am J Med Genet A. 2018 Feb;176(2):330-336. doi: 10.1002/ajmg.a.38574. Epub 2017 Dec 11.

PMID:
29226520
10.

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.

Perez Y, Wormser O, Sadaka Y, Birk R, Narkis G, Birk OS.

Biomed Res Int. 2017;2017:3470234. doi: 10.1155/2017/3470234. Epub 2017 Oct 8.

11.

PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.

Proskorovski-Ohayon R, Kadir R, Michalowski A, Flusser H, Perez Y, Hershkovitz E, Sivan S, Birk OS.

Hum Mutat. 2017 Dec;38(12):1671-1683. doi: 10.1002/humu.23310. Epub 2017 Sep 22.

PMID:
28779497
12.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D.

Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15.

13.

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.

Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS.

Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10.

14.

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

Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M, Halperin D, Barber-Zucker S, Shalev H, Schreiber R, Gradstein L, Gurevich E, Zarivach R, Rutter GA, Landau D, Birk OS.

Brain. 2017 Apr 1;140(4):928-939. doi: 10.1093/brain/awx013.

15.

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.

Feinstein-Linial M, Buvoli M, Buvoli A, Sadeh M, Dabby R, Straussberg R, Shelef I, Dayan D, Leinwand LA, Birk OS.

BMC Med Genet. 2016 Aug 12;17(1):57. doi: 10.1186/s12881-016-0315-1.

16.

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

Gradstein L, Zolotushko J, Sergeev YV, Lavy I, Narkis G, Perez Y, Guigui S, Sharon D, Banin E, Walter E, Lifshitz T, Birk OS.

BMC Med Genet. 2016 Jul 30;17(1):52. doi: 10.1186/s12881-016-0314-2.

17.

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.

Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS.

PLoS Genet. 2016 Mar 23;12(3):e1005919. doi: 10.1371/journal.pgen.1005919. eCollection 2016 Mar.

18.

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.

Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS.

J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. Epub 2015 Nov 6.

PMID:
26545877
19.

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

Volodarsky M, Lichtig H, Leibson T, Sadaka Y, Kadir R, Perez Y, Liani-Leibson K, Gradstein L, Shaco-Levy R, Shorer Z, Frank D, Birk OS.

Hum Mol Genet. 2015 Nov 15;24(22):6485-91. doi: 10.1093/hmg/ddv357. Epub 2015 Sep 10.

PMID:
26358778
20.

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

Volodarsky M, Zilberman U, Birk OS.

Arch Oral Biol. 2015 Jun;60(6):919-22. doi: 10.1016/j.archoralbio.2015.02.018. Epub 2015 Feb 28.

PMID:
25827751

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