Publications by authors named "Shay Ben-Shachar"

67Publications

Impact of a national population-based carrier-screening program on spinal muscular atrophy births.

Neuromuscul Disord 2020 Oct 20. Epub 2020 Oct 20.

Community Genetics, Public Health Services, Ministry of Health, Jerusalem 9101002, Israel.

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http://dx.doi.org/10.1016/j.nmd.2020.10.005DOI Listing
October 2020

The yield of chromosomal microarray testing for cases of abnormal fetal head circumference.

J Perinat Med 2020 04 28;48(6):553-558. Epub 2020 Apr 28.

Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

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http://dx.doi.org/10.1515/jpm-2020-0048DOI Listing
April 2020

Ante-natal counseling in phacomatoses.

Childs Nerv Syst 2020 Oct 5;36(10):2269-2277. Epub 2020 Jul 5.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s00381-020-04776-3DOI Listing
October 2020

Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1-Related Disease.

J Pediatr Genet 2020 Jun 21;9(2):121-124. Epub 2019 Oct 21.

Genetics Institute, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1055/s-0039-1698445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183409PMC
June 2020

Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies.

Early Hum Dev 2020 Jun 20;145:105047. Epub 2020 Apr 20.

Genetics Institute, Carmel Medical Center, affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.earlhumdev.2020.105047DOI Listing
June 2020

Microarray findings in pregnancies with oligohydramnios - a retrospective cohort study and literature review.

J Perinat Med 2019 Dec;48(1):53-58

Genetics Institute, Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1515/jpm-2019-0228DOI Listing
December 2019

What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?

Acta Obstet Gynecol Scand 2020 06 9;99(6):757-764. Epub 2019 Sep 9.

Carmel Medical Center, Genetics Institute, Haifa, Israel.

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http://dx.doi.org/10.1111/aogs.13708DOI Listing
June 2020

VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.

Neurogenetics 2019 10 16;20(4):187-195. Epub 2019 Aug 16.

Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s10048-019-00586-1DOI Listing
October 2019

The rare 13q33-q34 microdeletions: eight new patients and review of the literature.

Hum Genet 2019 Oct 18;138(10):1145-1153. Epub 2019 Jul 18.

Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.

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http://dx.doi.org/10.1007/s00439-019-02048-yDOI Listing
October 2019

Is fetal isolated double renal collecting system an indication for chromosomal microarray?

J Matern Fetal Neonatal Med 2019 May 15:1-5. Epub 2019 May 15.

h Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Genetics Institute , Technion - Israel Institute of Technology , Haifa , Israel.

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http://dx.doi.org/10.1080/14767058.2019.1613364DOI Listing
May 2019

In Reply.

Obstet Gynecol 2019 04;133(4):828

Genetics Institute, Carmel Medical Center, affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel Genetics Institute, Tel Aviv Sourasky Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1097/AOG.0000000000003208DOI Listing
April 2019

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies.

Obstet Gynecol 2018 12;132(6):1368-1375

Genetics Institute, Carmel Medical Center, Haifa, the Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, the Genetics Institute, Tel Aviv Sourasky Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, the Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, the Genetic Institute, Assaf Harofeh Medical Center, Zerifin, the Medical Genetics Institute, Shaare Zedek Medical Center and the Hebrew University School of Medicine, Jerusalem, the Genetic Institute, Soroka University Medical Center, Faculty of Health Sciences Ben-Gurion University of the Negev, Negev, the Institute of Human Genetics, Haemek Medical Center, Afula, the Medical Genetics Institute, Meir Medical Center, Kfar Saba, the Genetics Institute, Kaplan Medical Center, Rehovot, affiliated to the Hebrew University and Hadassah Medical School, Jerusalem, the Genetics Institute, Bnai Zion Medical Center, Haifa, the Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Cytogenetic Maccabi Health Care, Tel Aviv, and Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.

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http://dx.doi.org/10.1097/AOG.0000000000002975DOI Listing
December 2018

Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

EBioMedicine 2018 Oct 28;36:508-516. Epub 2018 Sep 28.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Gilbert Israeli Neurofibromatosis Center, Tel-Aviv Medical Center, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2018.09.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197713PMC
October 2018

Genotype-Serotype Interactions Shed Light on Genetic Components of Inflammatory Bowel Diseases.

Inflamm Bowel Dis 2019 01;25(2):336-344

IBD Center, Department of Gastroenterology and Liver Diseases.

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http://dx.doi.org/10.1093/ibd/izy231DOI Listing
January 2019

Chromosomal microarray findings in pregnancies with an isolated pelvic kidney.

J Perinat Med 2018 Dec;47(1):30-34

Genetic Institute, Tel Aviv Sourasky Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1515/jpm-2017-0321DOI Listing
December 2018

Increase in Processing Factors Is Involved in Skewed MicroRNA Expression in Patients with Ulcerative Colitis Who Develop Small Intestine Inflammation after Pouch Surgery.

Inflamm Bowel Dis 2018 04;24(5):1045-1054

IBD Center, Department of Gastroenterology and Liver Diseases, Tel Aviv Medical Center, Tel Aviv, Israel, affiliated with the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1093/ibd/izy034DOI Listing
April 2018

Microarray analysis in pregnancies with isolated echogenic bowel.

Early Hum Dev 2018 04 6;119:25-28. Epub 2018 Mar 6.

Genetics Institute, Carmel Medical Center, Haifa, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.earlhumdev.2018.02.014DOI Listing
April 2018

Non-visualization of fetal gallbladder in microarray era - a retrospective cohort study and review of the literature.

J Matern Fetal Neonatal Med 2019 Aug 28;32(16):2643-2648. Epub 2018 Feb 28.

l Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center , Petach Tikva , Israel.

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http://dx.doi.org/10.1080/14767058.2018.1443070DOI Listing
August 2019

Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature.

J Perinatol 2018 05 6;38(5):468-473. Epub 2018 Feb 6.

Genetics Institute, Carmel Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1038/s41372-018-0062-6DOI Listing
May 2018

Isolated fetal horseshoe kidney does not seem to increase the risk for abnormal chromosomal microarray results.

Eur J Obstet Gynecol Reprod Biol 2018 Mar 23;222:80-83. Epub 2018 Jan 23.

Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ejogrb.2018.01.015DOI Listing
March 2018

Microarray analysis in pregnancies with isolated unilateral kidney agenesis.

Pediatr Res 2018 04 7;83(4):825-828. Epub 2018 Feb 7.

Genetics Institute, Tel Aviv Sourasky Medical Center, Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1038/pr.2018.3DOI Listing
April 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.

J Mol Neurosci 2017 Oct 15;63(2):216-222. Epub 2017 Sep 15.

Tel Aviv Medical Center, The Genetic Institute, 6 Weizmann Street, 6423906, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s12031-017-0972-3DOI Listing
October 2017

Machine Learning-Based Gene Prioritization Identifies Novel Candidate Risk Genes for Inflammatory Bowel Disease.

Inflamm Bowel Dis 2017 09;23(9):1516-1523

*Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; †Department of Gastroenterology and Liver Diseases, IBD Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; and ‡Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1097/MIB.0000000000001222DOI Listing
September 2017

Cranial irradiation in childhood mimicking neurofibromatosis type II.

Am J Med Genet A 2017 Jun 19;173(6):1635-1639. Epub 2017 Apr 19.

The Gilbert Israeli Neurofibromatosis Center, Tel-Aviv Medical Center, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/ajmg.a.38211DOI Listing
June 2017

Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules.

J Am Acad Dermatol 2017 Jun 18;76(6):1077-1083.e3. Epub 2017 Mar 18.

Medical Genomics Laboratory, Department of Genetics, University of Alabama, Birmingham, Alabama.

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http://dx.doi.org/10.1016/j.jaad.2017.02.027DOI Listing
June 2017

Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.

Am J Med Genet A 2017 Mar 27;173(3):744-748. Epub 2017 Jan 27.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1002/ajmg.a.38027DOI Listing
March 2017

The effect of parental age on the presence of de novo mutations - Lessons from neurofibromatosis type I.

Mol Genet Genomic Med 2016 Jul 16;4(4):480-6. Epub 2016 Jun 16.

Sackler Faculty of MedicineTel-Aviv UniversityTel-AvivIsrael; The Gilbert Israeli Neurofibromatosis CenterTel-Aviv Medical CenterTel-AvivIsrael.

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http://dx.doi.org/10.1002/mgg3.222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947867PMC
July 2016

Advances in Molecular Diagnosis of Neurofibromatosis Type 1.

Semin Pediatr Neurol 2015 Dec 28;22(4):234-9. Epub 2015 Oct 28.

Gilbert Israeli Neurofibromatosis Center, Tel-Aviv Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Genetic Institute, Tel-Aviv Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2015.10.007DOI Listing
December 2015

A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.

Mol Genet Metab 2016 Jan 26;117(1):38-41. Epub 2015 Nov 26.

Sackler School of Medicine, Tel Aviv University, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel; The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2015.11.011DOI Listing
January 2016

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

J Med Genet 2016 Feb 6;53(2):132-7. Epub 2015 Nov 6.

The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2015-103232DOI Listing
February 2016

High prevalence of elevated blood pressure among children with neurofibromatosis type 1.

Pediatr Nephrol 2016 Jan 28;31(1):131-6. Epub 2015 Aug 28.

Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1007/s00467-015-3191-6DOI Listing
January 2016

Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency.

J Pediatr Hematol Oncol 2015 Nov;37(8):e490-3

*Department of Pediatric Hemato-Oncology †The Gilbert Israeli Neurofibromatosis Center (GINFC) ‡Department of Pathology, Diagnostic and Research Cancer Center, Tel Aviv Sourasky Medical Center, Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel §Division of Hematology/Oncology, Institute of Medical Sciences ¶Department of Laboratory Medicine and Pathobiology, Division of Pathology, The Hospital for Sick Children, The University of Toronto ∥Zane Cohen Centre, Mount Sinai Hospital, Toronto, ON, Canada.

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http://dx.doi.org/10.1097/MPH.0000000000000415DOI Listing
November 2015

The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing.

Genet Med 2016 Apr 16;18(4):372-7. Epub 2015 Jul 16.

Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1038/gim.2015.96DOI Listing
April 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Genetic markers of Restless Legs Syndrome in Parkinson disease.

Parkinsonism Relat Disord 2015 Jun 17;21(6):582-5. Epub 2015 Mar 17.

Montreal Neurological Institute, McGill University, Montreal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441838PMC
June 2015

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.

Nat Genet 2015 Mar 2;47(3):257-62. Epub 2015 Feb 2.

1] Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada. [3] Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. [4] Department of Pediatrics, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ng.3202DOI Listing
March 2015

Frontosphenoid synostosis: an unusual cause of anterior plagiocephaly.

J Craniofac Surg 2015 Jan;26(1):174-5

From the *Department of Pediatric Neurosurgery, Dana Children's Hospital, †Pediatric Plastic Surgery Unit, Department of Plastic Surgery, ‡Pediatric Radiology Unit, Department of Radiology, and §The Genetic Institute, Tel-Aviv Medical Centre, Tel Aviv, Israel.

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http://dx.doi.org/10.1097/SCS.0000000000001183DOI Listing
January 2015

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.

Genet Med 2014 Dec 29;16(12):940-4. Epub 2014 May 29.

Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://www.nature.com/articles/gim201464
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http://dx.doi.org/10.1038/gim.2014.64DOI Listing
December 2014

Microscopic chromosome Xp distal deletions--a challenging issue in prenatal genetic counseling.

Prenat Diagn 2014 Jun 25;34(6):592-7. Epub 2014 Mar 25.

The Genetic Institute & Prenatal Genetic Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1002/pd.4354DOI Listing
June 2014

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

Am J Hum Genet 2014 Mar 13;94(3):462-9. Epub 2014 Feb 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140005
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http://dx.doi.org/10.1016/j.ajhg.2014.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951935PMC
March 2014

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

Eur J Cancer 2014 Mar 15;50(5):987-96. Epub 2014 Jan 15.

Division of Hematology/Oncology, The Hospital for Sick Children, Institute of Medical Sciences, The University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Arthur and Sonia Labbatt Brain Tumor Research Center, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejca.2013.12.005DOI Listing
March 2014

Gene expression profiles of ileal inflammatory bowel disease correlate with disease phenotype and advance understanding of its immunopathogenesis.

Inflamm Bowel Dis 2013 Nov;19(12):2509-21

*Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; †Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; ‡IBD center, Department of Gastroenterology and Liver Diseases, Tel Aviv Medical Center, Tel Aviv, Israel; Departments of §Pathology, and ‖Surgery, Tel Aviv Medical Center, Tel Aviv, Israel; and ¶Bioinformatics Unit, G.S.W. Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1097/01.MIB.0000437045.26036.00DOI Listing
November 2013

Specific neurological phenotypes in autism spectrum disorders are associated with sex representation.

Autism Res 2013 Dec 19;6(6):596-604. Epub 2013 Jul 19.

Department of Communication Disorders, Ariel University Center of Samaria, Ariel, Israel; The Autism Center, Department of Pediatrics, Assaf Harofeh Medical Center, Zerifin, Israel.

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http://dx.doi.org/10.1002/aur.1319DOI Listing
December 2013

Fever-induced Brugada pattern: how common is it and what does it mean?

Heart Rhythm 2013 Sep 19;10(9):1375-82. Epub 2013 Jul 19.

Department of Cardiology, Tel-Aviv Sourasky Medical Center and Sackler School of Medicine, Tel-Aviv University, Israel.

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http://dx.doi.org/10.1016/j.hrthm.2013.07.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832740PMC
September 2013

Ube3a/E6AP is involved in a subset of MeCP2 functions.

Biochem Biophys Res Commun 2013 Jul 19;437(1):67-73. Epub 2013 Jun 19.

Department of Genetics, Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1016/j.bbrc.2013.06.036DOI Listing
July 2013

Undetected sex chromosome aneuploidy by chromosomal microarray.

Prenat Diagn 2012 Nov 4;32(11):1117-8. Epub 2012 Oct 4.

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http://dx.doi.org/10.1002/pd.3979DOI Listing
November 2012

A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews.

Mol Genet Metab 2012 Nov 18;107(3):608-10. Epub 2012 Aug 18.

The Genetic Institute & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192120031
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http://dx.doi.org/10.1016/j.ymgme.2012.08.011DOI Listing
November 2012

Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths.

Prenat Diagn 2011 Oct 5;31(10):932-44. Epub 2011 Jul 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1002/pd.2817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183137PMC
October 2011

Large-scale population screening for spinal muscular atrophy: clinical implications.

Genet Med 2011 Feb;13(2):110-4

Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, Israel.

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http://dx.doi.org/10.1097/GIM.0b013e3182017c05DOI Listing
February 2011

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.

Hum Mol Genet 2009 Jul 15;18(13):2431-42. Epub 2009 Apr 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddp181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694691PMC
July 2009

Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies.

Am J Med Genet A 2009 Mar;149A(3):515-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32667DOI Listing
March 2009