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

by Ana Navarrete, Adva Kimchi, Jaime Levy, Vardiella Meiner, Radgonde Amer, Claudia Yahalom
Published 2020-12-01

GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism

by Auryan Szalat, Shoshana Shpitzen, Rena Pollack, Haggi Mazeh, Ronen Durst, Vardiella Meiner
Published 2023-12-01

On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase

by Ann Båvner, Marjan Shafaati, Magnus Hansson, Maria Olin, Shoshi Shpitzen, Vardiella Meiner, Eran Leitersdorf, Ingemar Björkhem
Published 2010-09-01

On the regulatory role of side-chain hydroxylated oxysterols in the brain. Lessons from CYP27A1 transgenic and Cyp27a1−/− mice1

by Zeina Ali, Maura Heverin, Maria Olin, Jure Acimovic, Anita Lövgren-Sandblom, Marjan Shafaati, Ann Båvner, Vardiella Meiner, Eran Leitersdorf, Ingemar Björkhem
Published 2013-04-01

“High-Risk Breast Cancer Screening in BRCA1/2 Carriers Leads to Early Detection and Improved Survival After a Breast Cancer Diagnosis”

by Shay Shraga, Shay Shraga, Albert Grinshpun, Albert Grinshpun, Aviad Zick, Aviad Zick, Luna Kadouri, Luna Kadouri, Yogev Cohen, Yogev Cohen, Ofra Maimon, Ofra Maimon, Yael Adler-Levy, Yael Adler-Levy, Galina Zeltzer, Galina Zeltzer, Avital Granit, Avital Granit, Bella Maly, Bella Maly, Einat Carmon, Einat Carmon, Vardiella Meiner, Vardiella Meiner, Tamar Sella, Tamar Sella, Tamar Hamburger, Tamar Peretz, Tamar Peretz
Published 2021-09-01

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

by Pandora L Wander, Hagit Hochner, Colleen M Sitlani, Daniel A Enquobahrie, Thomas Lumley, Gabriela M Lawrence, Ayala Burger, Bella Savitsky, Orly Manor, Vardiella Meiner, Stephanie Hesselson, Pui Y Kwok, David S Siscovick, Yechiel Friedlander
Published 2014-01-01

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

by Hagit Hochner, Catherine Allard, Einat Granot-Hershkovitz, Jinbo Chen, Colleen M Sitlani, Sandra Sazdovska, Thomas Lumley, Barbara McKnight, Kenneth Rice, Daniel A Enquobahrie, James B Meigs, Pui Kwok, Marie-France Hivert, Ingrid B Borecki, Felicia Gomez, Ting Wang, Cornelia van Duijn, Najaf Amin, Jerome I Rotter, John Stamatoyannopoulos, Vardiella Meiner, Orly Manor, Josée Dupuis, Yechiel Friedlander, David S Siscovick
Published 2015-10-01

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

by Bassam Abu-Libdeh, Satpal S. Jhujh, Srijita Dhar, Joshua A. Sommers, Arindam Datta, Gabriel M.C. Longo, Laura J. Grange, John J. Reynolds, Sophie L. Cooke, Gavin S. McNee, Robert Hollingworth, Beth L. Woodward, Anil N. Ganesh, Stephen J. Smerdon, Claudia M. Nicolae, Karina Durlacher-Betzer, Vered Molho-Pessach, Abdulsalam Abu-Libdeh, Vardiella Meiner, George-Lucian Moldovan, Vassilis Roukos, Tamar Harel, Robert M. Brosh Jr., Grant S. Stewart
Published 2022-03-01

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

by Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani
Published 2019-03-01

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

by Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder Jr, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
Published 2019-03-01

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

by Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
Published 2019-02-01