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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Author / Creator:Lahrouchi, Najim ; George, Aman ; Ratbi, Ilham ; Schneider, Ronen ; Elalaoui, Siham C. ; Moosa, Shahida ; Bharti, Sanita ; Sharma, Ruchi ; Abu-Asab, Mones ; Onojafe, Felix ; Adadi, Najlae ; Lodder, Elisabeth M. ; Laarabi, Fatima-Zahra ; Lamsyah, Yassine ; Elorch, Hamza ; Chebbar, Imane ; Postma, Alex V. ; Lougaris, Vassilios ; Plebani, Alessandro ; Altmueller, Janine ; Kyrieleis, Henriette ; Meiner, Vardiella ; McNeill, Helen ; Bharti, Kapil ; Lyonnet, Stanislas ; Wollnik, Bernd ; Henrion-Caude, Alexandra ; Berraho, Amina ; Hildebrandt, Friedhelm ; Bezzina, Connie R. ; Brooks, Brian P. ; Sefiani, Abdelaziz
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-03, Vol.10 (1), p.1180-1180, Article 1180
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Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child
Author / Creator:Mor-Shaked, Hagar ; Rips, Jonathan ; Gershon Naamat, Shiri ; Reich, Avichai ; Elpeleg, Orly ; Meiner, Vardiella ; Harel, Tamar
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.455-462
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MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification
Author / Creator:Bauer, Max ; Rahat, Dolev ; Zisman, Elad ; Tabach, Yuval ; Lossos, Alexander ; Meiner, Vardiella ; Arkadir, David
Publisher:New York: Springer US
Journal title:Current neurology and neuroscience reports, 2019-10, Vol.19 (10), p.70-6, Article 70
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Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder
Author / Creator:Abu-Libdeh, Bassam ; Mor-Shaked, Hagar ; Atawna, Amir A ; Gillis, David ; Halstuk, Orli ; Shaul-Lotan, Nava ; Slae, Mordechai ; Sultan, Mutaz ; Meiner, Vardiella ; Elpeleg, Orly ; Harel, Tamar
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-06, Vol.29 (6), p.977-987
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Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay
Author / Creator:Harel, Tamar ; Levy-Lahad, Ephrat ; Daana, Muhannad ; Mechoulam, Hadas ; Horowitz-Cederboim, Smadar ; Gur, Michal ; Meiner, Vardiella ; Elpeleg, Orly
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-08, Vol.27 (8), p.1315-1319
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Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
Author / Creator:Daum, Hagit ; Meiner, Vardiella ; Michaelson-Cohen, Rachel ; Sukenik-Halevy, Rivka ; Zalcberg, Michal Levy ; Bar-Ziv, Anat ; Weiden, A Tzvi ; Scher, Sholem Y ; Shohat, Mordechai ; Zlotogora, Joël
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.938-942
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Multi-system neurological disorder associated with a CRYAB variant
Author / Creator:Sadeh, Menachem ; Rahat, Dolev ; Meiner, Vardiella ; Fellig, Yakov ; Arad, Michael ; Schueler-Furman, Ora ; Hu, Ying ; Li, Yan ; Bönnemann, Carsten G. ; Lossos, Alexander
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2021-05, Vol.22 (2), p.117-125
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Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation
Author / Creator:Navarrete, Ana ; Kimchi, Adva ; Levy, Jaime ; Meiner, Vardiella ; Amer, Radgonde ; Yahalom, Claudia
Publisher:Galenos Yayinevi Tic. Ltd
Journal title:Turk oftalmoloji gazetesi, 2020-12, Vol.50 (6), p.387-389
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Author / Creator:Vetrini, Francesco ; McKee, Shane ; Rosenfeld, Jill A ; Suri, Mohnish ; Lewis, Andrea M ; Nugent, Kimberly Margaret ; Roeder, Elizabeth ; Littlejohn, Rebecca O ; Holder, Sue ; Zhu, Wenmiao ; Alaimo, Joseph T ; Graham, Brett ; Harris, Jill M ; Gibson, James B ; Pastore, Matthew ; McBride, Kim L ; Komara, Makanko ; Al-Gazali, Lihadh ; Al Shamsi, Aisha ; Fanning, Elizabeth A ; Wierenga, Klaas J ; Scott, Daryl A ; Ben-Neriah, Ziva ; Meiner, Vardiella ; Cassuto, Hanoch ; Elpeleg, Orly ; Holder, Jr, J Lloyd ; Burrage, Lindsay C ; Seaver, Laurie H ; Van Maldergem, Lionel ; Mahida, Sonal ; Soul, Janet S ; Marlatt, Margaret ; Matyakhina, Ludmila ; Vogt, Julie ; Gold, June-Anne ; Park, Soo-Mi ; Varghese, Vinod ; Lampe, Anne K ; Kumar, Ajith ; Lees, Melissa ; Holder-Espinasse, Muriel ; McConnell, Vivienne ; Bernhard, Birgitta ; Blair, Ed ; Harrison, Victoria ; Muzny, Donna M ; Gibbs, Richard A ; Elsea, Sarah H ; Posey, Jennifer E ; Bi, Weimin ; Lalani, Seema ; Xia, Fan ; Yang, Yaping ; Eng, Christine M ; Lupski, James R ; Liu, Pengfei
Publisher:England: BioMed Central
Journal title:Genome medicine, 2019-02, Vol.11 (1), p.12-17, Article 12
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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship
Author / Creator:Spiegel, Ronen ; Mandel, Hanna ; Saada, Ann ; Lerer, Issy ; Burger, Ayala ; Shaag, Avraham ; Shalev, Stavit A ; Jabaly-Habib, Haneen ; Goldsher, Dorit ; Gomori, John M ; Lossos, Alex ; Elpeleg, Orly ; Meiner, Vardiella
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.1019-1025
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Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults
Author / Creator:Hochner, Hagit ; Allard, Catherine ; Granot-Hershkovitz, Einat ; Chen, Jinbo ; Sitlani, Colleen M ; Sazdovska, Sandra ; Lumley, Thomas ; McKnight, Barbara ; Rice, Kenneth ; Enquobahrie, Daniel A ; Meigs, James B ; Kwok, Pui ; Hivert, Marie-France ; Borecki, Ingrid B ; Gomez, Felicia ; Wang, Ting ; van Duijn, Cornelia ; Amin, Najaf ; Rotter, Jerome I ; Stamatoyannopoulos, John ; Meiner, Vardiella ; Manor, Orly ; Dupuis, Josée ; Friedlander, Yechiel ; Siscovick, David S
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2015-10, Vol.11 (10), p.e1005573-e1005573
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RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1
Author / Creator:Abu-Libdeh, Bassam ; Jhujh, Satpal S ; Dhar, Srijita ; Sommers, Joshua A ; Datta, Arindam ; Longo, Gabriel Mc ; Grange, Laura J ; Reynolds, John J ; Cooke, Sophie L ; McNee, Gavin S ; Hollingworth, Robert ; Woodward, Beth L ; Ganesh, Anil N ; Smerdon, Stephen J ; Nicolae, Claudia M ; Durlacher-Betzer, Karina ; Molho-Pessach, Vered ; Abu-Libdeh, Abdulsalam ; Meiner, Vardiella ; Moldovan, George-Lucian ; Roukos, Vassilis ; Harel, Tamar ; Brosh, Jr, Robert M ; Stewart, Grant S
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2022-03, Vol.132 (5), p.1-17
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Maternal genetic variation accounts in part for the associations of maternal size during pregnancy with offspring cardiometabolic risk in adulthood
Author / Creator:Wander, Pandora L ; Hochner, Hagit ; Sitlani, Colleen M ; Enquobahrie, Daniel A ; Lumley, Thomas ; Lawrence, Gabriela M ; Burger, Ayala ; Savitsky, Bella ; Manor, Orly ; Meiner, Vardiella ; Hesselson, Stephanie ; Kwok, Pui Y ; Siscovick, David S ; Friedlander, Yechiel
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-03, Vol.9 (3), p.e91835-e91835
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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Mage...
Author / Creator:Vetrini, Francesco ; McKee, Shane ; Rosenfeld, Jill A ; Suri, Mohnish ; Lewis, Andrea M ; Nugent, Kimberly Margaret ; Roeder, Elizabeth ; Littlejohn, Rebecca O ; Holder, Sue ; Zhu, Wenmiao ; Alaimo, Joseph T ; Graham, Brett ; Harris, Jill M ; Gibson, James B ; Pastore, Matthew ; McBride, Kim L ; Komara, Makanko ; Al-Gazali, Lihadh ; Al Shamsi, Aisha ; Fanning, Elizabeth A ; Wierenga, Klaas J ; Scott, Daryl A ; Ben-Neriah, Ziva ; Meiner, Vardiella ; Cassuto, Hanoch ; Elpeleg, Orly ; Lloyd Holder, Jr, J ; Burrage, Lindsay C ; Seaver, Laurie H ; Van Maldergem, Lionel ; Mahida, Sonal ; Soul, Janet S ; Marlatt, Margaret ; Matyakhina, Ludmila ; Vogt, Julie ; Gold, June-Anne ; Park, Soo-Mi ; Varghese, Vinod ; Lampe, Anne K ; Kumar, Ajith ; Lees, Melissa ; Holder-Espinasse, Muriel ; McConnell, Vivienne ; Bernhard, Birgitta ; Blair, Ed ; Harrison, Victoria ; Muzny, Donna M ; Gibbs, Richard A ; Elsea, Sarah H ; Posey, Jennifer E ; Bi, Weimin ; Lalani, Seema ; Xia, Fan ; Yang, Yaping ; Eng, Christine M ; Lupski, James R ; Liu, Pengfei
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2019-03, Vol.11 (1), p.16-16, Article 16
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Disruption of the Acyl-CoA:Cholesterol Acyltransferase Gene in Mice: Evidence Suggesting Multiple Cholesterol Esterification Enzymes in Mammals
Author / Creator:Meiner, Vardiella L. ; Cases, Sylvaine ; Myers, Heather M. ; Sande, Eric R. ; Bellosta, Stefano ; Schambelan, Morris ; Pitas, Robert E. ; McGuire, James ; Herz, Joachim ; Farese, Robert V.
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1996-11, Vol.93 (24), p.14041-14046
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Severe Infantile Carnitine Palmitoyltransferase II Deficiency in 19-Week Fetal Sibs
Author / Creator:Meir, Karen ; Fellig, Yakov ; Meiner, Vardiella ; Korman, Stanley H. ; Shaag, Avraham ; Nadjari, Michel ; Soffer, Dov ; Ariel, Ilana
Publisher:Los Angeles, CA: SAGE Publications
Journal title:Pediatric and developmental pathology, 2009-12, Vol.12 (6), p.481-486
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Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
Author / Creator:ELLEUCH, Nizar ; BOUSLAM, Naima ; BACQ, Delphine ; TAZIR, Meriem ; ZELENIKA, Diana ; ARGOV, Zohar ; DURR, Alexandra ; YAHYAOUI, Mohamed ; BENOMAR, Ali ; BRICE, Alexis ; STEVANIN, Giovanni ; HANEIN, Sylvain ; LOSSES, Alexander ; HAMRI, Abdelmadjid ; KLEBE, Stephan ; MEINER, Vardiella ; BIROUK, Nezha ; LERER, Israela ; GRID, Djamel
Publisher:Berlin: Springer
Journal title:Neurogenetics, 2007-11, Vol.8 (4), p.307-315
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Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
Author / Creator:Gilboa, Tal ; Elefant, Naama ; Meiner, Vardiella ; Hacohen, Nuphar
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2023-01, Vol.24 (1), p.61-66
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Exome sequencing for structurally normal fetuses-yields and ethical issues
Author / Creator:Daum, Hagit ; Harel, Tamar ; Millo, Talya ; Eilat, Avital ; Fahham, Duha ; Gershon-Naamat, Shiri ; Basal, Adily ; Rosenbluh, Chaggai ; Yanai, Nili ; Porat, Shay ; Kabiri, Doron ; Yagel, Simcha ; Valsky, Dan V ; Elpeleg, Orly ; Meiner, Vardiella ; Mor-Shaked, Hagar
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-02, Vol.31 (2), p.164-168
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Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome
Author / Creator:Daum, Hagit ; Segel, Reeval ; Meiner, Vardiella ; Goldberg, Yael ; Zeligson, Sharon ; Weiss, Omri ; Stern, Shira ; Frumkin, Ayala ; Zenvirt, Shamir ; Ganz, Gael ; Shkedi-Rafid, Shiri
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-01, Vol.60 (1), p.99-105
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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

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Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child

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MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification

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Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder

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Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

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Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

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Multi-system neurological disorder associated with a CRYAB variant

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Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation

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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

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Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults

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RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1

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Maternal genetic variation accounts in part for the associations of maternal size during pregnancy with offspring cardiometabolic risk in adulthood

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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Mage...

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Disruption of the Acyl-CoA:Cholesterol Acyltransferase Gene in Mice: Evidence Suggesting Multiple Cholesterol Esterification Enzymes in Mammals

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Severe Infantile Carnitine Palmitoyltransferase II Deficiency in 19-Week Fetal Sibs

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Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

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Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia

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Exome sequencing for structurally normal fetuses-yields and ethical issues

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Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome

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