Works by Raas-Rothschild, Annick

Results: 50

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3262, doi. 10.1002/ajmg.a.62946

By:

Baker, Elizabeth K.;
Solivio, Beulah;
Pode‐Shakked, Ben;
Cross, Laura Ann;
Sullivan, Bonnie;
Raas‐Rothschild, Annick;
Chorin, Odelia;
Barel, Ortal;
Bar‐Yosef, Omer;
Husami, Ammar;
Hopkin, Robert J.;
Prada, Carlos E.;
Stottmann, Rolf W.;
Weaver, Kathryn Nicole

Publication type:

Article

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.

Published in:

Movement Disorders, 2011, v. 26, n. 9, p. 1593, doi. 10.1002/mds.23774

By:

Shachar, Tamar;
Bianco, Christophe Lo;
Recchia, Alessandra;
Wiessner, Christoph;
Raas-Rothschild, Annick;
Futerman, Anthony H.

Publication type:

Article

Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288

By:

Michot, Caroline;
Le Goff, Carine;
Mahaut, Clémentine;
Afenjar, Alexandra;
Brooks, Alice S;
Campeau, Philippe M;
Destree, Anne;
Di Rocco, Maja;
Donnai, Dian;
Hennekam, Raoul;
Heron, Delphine;
Jacquemont, Sébastien;
Kannu, Peter;
Lin, Angela E;
Manouvrier-Hanu, Sylvie;
Mansour, Sahar;
Marlin, Sandrine;
McGowan, Ruth;
Murphy, Helen;
Raas-Rothschild, Annick

Publication type:

Article

Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182

By:

Michot, Caroline;
Le Goff, Carine;
Mahaut, Clémentine;
Afenjar, Alexandra;
Brooks, Alice S;
Campeau, Philippe M;
Destree, Anne;
Di Rocco, Maja;
Donnai, Dian;
Hennekam, Raoul;
Heron, Delphine;
Jacquemont, Sébastien;
Kannu, Peter;
Lin, Angela E;
Manouvrier-Hanu, Sylvie;
Mansour, Sahar;
Marlin, Sandrine;
McGowan, Ruth;
Murphy, Helen;
Raas-Rothschild, Annick

Publication type:

Article

Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 496, doi. 10.1038/sj.ejhg.5200277

By:

Raas-Rothschild, Annick;
Bargal, Ruth;
DellaPergola, Sergio;
Zeigler, Marcia;
Bach, Gideon

Publication type:

Article

Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study.

Published in:

Pediatric Blood & Cancer, 2024, v. 71, n. 2, p. 1, doi. 10.1002/pbc.30761

By:

Barg, Assaf A.;
Yeshayahu, Yonatan;
Avishai, Einat;
Budnik, Ivan;
Cohen, Omri;
Brutman‐Barazani, Tami;
Dardik, Rima;
Raas‐Rothschild, Annick;
Levy‐Mendelovich, Sarina;
Livnat, Tami;
Pinhas‐Hamiel, Orit;
Kenet, Gili

Publication type:

Article

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Published in:

Nature Genetics, 2001, v. 28, n. 2, p. 188, doi. 10.1038/88925

By:

Mykytyn, Kirk;
Braun, Terry;
Carmi, Rivka;
Haider, Neena B.;
Searby, Charles C.;
Shastri, Mythreyi;
Beck, Gretel;
Wright, Alan F.;
Iannaccone, Alessandro;
Elbedour, Khalil;
Riise, Ruth;
Baldi, Alfonso;
Raas-Rothschild, Annick;
Gorman, Susan W.;
Duhl, David M.;
Jacobson, Samuel G.;
Casavant, Thomas;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Identification of the gene causing mucolipidosis type IV.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 118, doi. 10.1038/79095

By:

Bargal, Ruth;
Avidan, Nili;
Ben-Asher, Edna;
Olender, Zvia;
Zeigler, Marcia;
Frumkin, Ayala;
Raas-Rothschild, Annick;
Glusman, Gustavo;
Lancet, Doron;
Bach, Gideon

Publication type:

Article

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.

Published in:

2017

By:

Egunsola, Adetutu T.;
Yangjin Bae;
Ming-Ming Jiang;
Liu, David S.;
Yuqing Chen-Evenson;
Bertin, Terry;
Shan Chen;
Lu, James T.;
Nevarez, Lisette;
Magal, Nurit;
Raas-Rothschild, Annick;
Swindell, Eric C.;
Cohn, Daniel H.;
Gibbs, Richard A.;
Campeau, Philippe M.;
Shohat, Mordechai;
Lee, Brendan H.;
Bae, Yangjin;
Jiang, Ming-Ming;
Chen-Evenson, Yuqing

Publication type:

journal article

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8200, doi. 10.3390/ijms21218200

By:

van Rijn, Jorik M.;
Werner, Lael;
Aydemir, Yusuf;
Spronck, Joey M.A.;
Pode-Shakked, Ben;
van Hoesel, Marliek;
Shimshoni, Elee;
Polak-Charcon, Sylvie;
Talmi, Liron;
Eren, Makbule;
Weiss, Batia;
H.J. Houwen, Roderick;
Barshack, Iris;
Somech, Raz;
Nieuwenhuis, Edward E.S.;
Sagi, Irit;
Raas-Rothschild, Annick;
Middendorp, Sabine;
Shouval, Dror S.

Publication type:

Article

Absent ductus venosus in the fetus: review of the literature and first report of direct umbilical venous drainage to the coronary sinus.

Published in:

2003

By:

Perles, Zeev;
Nir, Amiram;
Nadjari, Michael;
Ergaz, Zivanit;
Raas-Rothschild, Annick;
Rein, Azaria J. J. T.

Publication type:

journal article

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2172, doi. 10.1093/hmg/ddn116

By:

Gordillo, Miriam;
Vega, Hugo;
Trainer, Alison H.;
Hou, Fajian;
Sakai, Norio;
Luque, Ricardo;
Kayserili, Hülya;
Basaran, Seher;
Skovby, Flemming;
Hennekam, Raoul C. M.;
Uzielli, Maria L. Giovannucci;
Schnur, Rhonda E.;
Manouvrier, Sylvie;
Chang, Susan;
Blair, Edward;
Hurst, Jane A.;
Forzano, Francesca;
Meins, Moritz;
Simola, Kalle O.J.;
Raas-Rothschild, Annick

Publication type:

Article

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0

By:

Ayers, Katie L.;
Eggers, Stefanie;
Rollo, Ben N.;
Smith, Katherine R.;
Davidson, Nadia M.;
Siddall, Nicole A.;
Zhao, Liang;
Bowles, Josephine;
Weiss, Karin;
Zanni, Ginevra;
Burglen, Lydie;
Ben-Shachar, Shay;
Rosensaft, Jenny;
Raas-Rothschild, Annick;
Jørgensen, Anne;
Schittenhelm, Ralf B.;
Huang, Cheng;
Robevska, Gorjana;
van den Bergen, Jocelyn;
Casagranda, Franca

Publication type:

Article

What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?

Published in:

Molecular Syndromology, 2022, v. 13, n. 1, p. 45, doi. 10.1159/000519099

By:

Liber, Shiri;
Staretz-Chacham, Orna;
Kishon, Mor;
Pode-Shakked, Ben;
Chorin, Odelia;
Kneller, Katya;
Anikster, Yair;
Mangisto, Geto;
Saada, Ann;
Raas-Rothschild, Annick

Publication type:

Article

A Form of Jansen's Metaphyseal Chondrodysplasia with Limited Metabolic and Skeletal Abnormalities Is Caused by a Novel Activating Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 7, p. 3595, doi. 10.1210/jc.2004-0036

By:

BASTEPE, MURAT;
RAAS-ROTHSCHILD, ANNICK;
SILVER, JUSTIN;
WEISSMAN, IRIT;
WIENTROUB, SHLOMO;
JÜPPNER, HARALD;
GILLIS, DAVID

Publication type:

Article

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.

Published in:

Frontiers in Genetics, 2023, v. 13, p. 1, doi. 10.3389/fgene.2022.1018062

By:

Kagan, Maayan;
Semo-Oz, Rotem;
Moshe, Yishay Ben;
Atias-Varon, Danit;
Tirosh, Irit;
Stern-Zimmer, Michal;
Eliyahu, Aviva;
Raas-Rothschild, Annick;
Bivas, Maayan;
Shlomovitz, Omer;
Chorin, Odelia;
Rock, Rachel;
Tzadok, Michal;
Ben-Zeev, Bruria;
Heimer, Gali;
Bolkier, Yoav;
Gruber, Noah;
Dagan, Adi;
El Bar Aluma, Bat;
Pessach, Itai M.

Publication type:

Article

Vici syndrome in Israel: Clinical and molecular insights.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.991721

By:

Chorin, Odelia;
Hirsch, Yoel;
Rock, Rachel;
Sheelo, Liat Salzer;
Goldberg, Yael;
Mandel, Hanna;
Hershkovitz, Tova;
Fleischer, Nicole;
Greenbaum, Lior;
Katz, Uriel;
Barel, Ortal;
Hamed, Nasrin;
Ben-Zeev, Bruria;
Greenberger, Shoshana;
Samra, Nadra Nasser;
Zimmer, Michal Stern;
Raas-Rothschild, Annick;
Pode-Shakked, Ben

Publication type:

Article

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Published in:

2023

By:

Ayers, Katie L.;
Eggers, Stefanie;
Rollo, Ben N.;
Smith, Katherine R.;
Davidson, Nadia M.;
Siddall, Nicole A.;
Zhao, Liang;
Bowles, Josephine;
Weiss, Karin;
Zanni, Ginevra;
Burglen, Lydie;
Ben-Shachar, Shay;
Rosensaft, Jenny;
Raas-Rothschild, Annick;
Jørgensen, Anne;
Schittenhelm, Ralf B.;
Huang, Cheng;
Robevska, Gorjana;
van den Bergen, Jocelyn;
Casagranda, Franca

Publication type:

Correction Notice

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0

By:

Ayers, Katie L.;
Eggers, Stefanie;
Rollo, Ben N.;
Smith, Katherine R.;
Davidson, Nadia M.;
Siddall, Nicole A.;
Zhao, Liang;
Bowles, Josephine;
Weiss, Karin;
Zanni, Ginevra;
Burglen, Lydie;
Ben-Shachar, Shay;
Rosensaft, Jenny;
Raas-Rothschild, Annick;
Jørgensen, Anne;
Schittenhelm, Ralf B.;
Huang, Cheng;
Robevska, Gorjana;
van den Bergen, Jocelyn;
Casagranda, Franca

Publication type:

Article

Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 429, doi. 10.1007/s10545-010-9133-3

By:

Segal, Perri;
Kohn, Yoav;
Pollak, Yehuda;
Altarescu, Gheona;
Galili-Weisstub, Esti;
Raas-Rothschild, Annick

Publication type:

Article

Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease.

Published in:

2014

By:

Schreyer ‐ Shafir, Nira;
Sukenik ‐ Halevy, Rivka;
Tepper, Ronnie;
Arnon, Schmuel;
Litmanovitch, Itta;
Eliakim, Alon;
Pommeranz, Avishalom;
Ludman, Mark David;
Raas ‐ Rothschild, Annick

Publication type:

Other

Fabry disease prenatal diagnosis.

Published in:

Prenatal Diagnosis, 2008, v. 28, n. 3, p. 268, doi. 10.1002/pd.1942

By:

Raas-Rothschild, Annick;
Lacombe, Didier

Publication type:

Article

Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.

Published in:

Prenatal Diagnosis, 2000, v. 20, n. 8, p. 666, doi. 10.1002/1097-0223(200008)20:8<666::AID-PD887>3.0.CO;2-L

By:

Nadjari, Michael;
Fasouliotis, Sozos J.;
Ariel, Ilana;
Raas-Rothschild, Annick;
Bar-Ziv, Jacob;
Elchalal, Uriel

Publication type:

Article

A novel mutation in UDP- N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 535, doi. 10.1002/humu.9293

By:

Tiede, Stephan;
Cantz, Michael;
Raas-Rothschild, Annick;
Muschol, Nicole;
Bürger, Friederike;
Ullrich, Kurt;
Braulke, Thomas

Publication type:

Article

Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 397, doi. 10.1002/humu.1115

By:

Bargal, Ruth;
Avidan, Nili;
Olender, Tzvia;
Ben Asher, Edna;
Zeigler, Marcia;
Raas-Rothschild, Annick;
Frumkin, Ayala;
Ben-Yoseph, Omer;
Friedlender, Yechiel;
Lancet, Doron;
Bach, Gideon

Publication type:

Article

Dental Management of a Child With Trisomy 9 Mosaicism: A Case Report.

Published in:

Pediatric Dentistry, 2006, v. 28, n. 3, p. 265

By:

Moskovitz, Moti;
Brener, Dan;
Annick, Raas-Rothschild

Publication type:

Article

Glycosphingolipidoses: Beyond the enzymatic defect.

Published in:

Glycoconjugate Journal, 2004, v. 21, n. 6, p. 295, doi. 10.1023/B:GLYC.0000046272.38480.ef

By:

Raas-Rothschild, Annick;
Pankova-Kholmyansky, Irene;
Kacher, Yaacov;
Futerman, Anthony

Publication type:

Article

Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.

Published in:

Pediatric Nephrology, 2021, v. 36, n. 12, p. 4009, doi. 10.1007/s00467-021-05216-3

By:

Merdler-Rabinowicz, Rona;
Pode-Shakked, Ben;
Vivante, Asaf;
Lahav, Einat;
Kagan, Maayan;
Chorin, Odelia;
Somech, Raz;
Raas-Rothschild, Annick

Publication type:

Article

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

Published in:

Pediatric Nephrology, 2017, v. 32, n. 12, p. 2273, doi. 10.1007/s00467-017-3755-8

By:

Vivante, Asaf;
Ityel, Hadas;
Pode-Shakked, Ben;
Chen, Jing;
Shril, Shirlee;
Ven, Amelie;
Mann, Nina;
Schmidt, Johanna;
Segel, Reeval;
Aran, Adi;
Zeharia, Avraham;
Staretz-Chacham, Orna;
Bar-Yosef, Omer;
Raas-Rothschild, Annick;
Landau, Yuval;
Lifton, Richard;
Anikster, Yair;
Hildebrandt, Friedhelm

Publication type:

Article

A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 987, doi. 10.1002/ajmg.a.61509

By:

Marek‐Yagel, Dina;
Bolkier, Yoav;
Barel, Ortal;
Vardi, Amir;
Mishali, David;
Katz, Uriel;
Salem, Yishay;
Abudi, Shachar;
Nayshool, Omri;
Kol, Nitzan;
Raas‐Rothschild, Annick;
Rechavi, Gideon;
Anikster, Yair;
Pode‐Shakked, Ben

Publication type:

Article

Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome).

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 38, doi. 10.1002/ajmg.a.61380

By:

Assia Batzir, Nurit;
Posey, Jennifer E.;
Song, Xiaofei;
Akdemir, Zeynep Coban;
Rosenfeld, Jill A.;
Brown, Chester W.;
Chen, Emily;
Holtrop, Shannon G.;
Mizerik, Elizabeth;
Nieto Moreno, Margarita;
Payne, Katelyn;
Raas‐Rothschild, Annick;
Scott, Richard;
Vernon, Hilary J.;
Zadeh, Neda;
Lupski, James R.;
Sutton, V. Reid

Publication type:

Article

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2091, doi. 10.1002/ajmg.a.35446

By:

Allanson, Judith;
Smith, Amanda;
Hare, Heather;
Albrecht, Beate;
Bijlsma, Emilia;
Dallapiccola, Bruno;
Donti, Emilio;
Fitzpatrick, David;
Isidor, Bertrand;
Lachlan, Katherine;
Le Caignec, Cedric;
Prontera, Paolo;
Raas-Rothschild, Annick;
Rogaia, Daniela;
van Bon, Bregje;
Aradhya, Swaroop;
Crocker, Susan F.;
Jarinova, Olga;
McGowan-Jordan, Jean;
Boycott, Kym

Publication type:

Article

The male phenotype in osteopathia striata congenita with cranial sclerosis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2397, doi. 10.1002/ajmg.a.34178

By:

Holman, Sarah K.;
Daniel, Phil;
Jenkins, Zandra A.;
Herron, Rachel L.;
Morgan, Tim;
Savarirayan, Ravi;
Chow, C.W.;
Bohring, Axel;
Mosel, Annette;
Lacombe, Didier;
Steiner, Bernhard;
Schmitt-Mechelke, Thomas;
Schroter, Barbara;
Raas-Rothschild, Annick;
Miñaur, Sixto Garcia;
Porteous, Mary;
Parker, Michael;
Quarrell, Oliver;
Tapon, Dagmar;
Cormier-Daire, Valérie

Publication type:

Article

Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1825, doi. 10.1002/ajmg.a.33952

By:

Granot-Hershkovitz, Einat;
Raas-Rothschild, Annick;
Frumkin, Ayala;
Granot, David;
Silverstein, Shira;
Abeliovich, Dvorah

Publication type:

Article

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.

Published in:

Journal of Bone & Mineral Research, 2017, v. 32, n. 12, p. 2394, doi. 10.1002/jbmr.3233

By:

Kämpe, Anders J;
Costantini, Alice;
Levy-shraga, Yael;
Zeitlin, Leonid;
Roschger, Paul;
Taylan, Fulya;
Lindstrand, Anna;
Paschalis, Eleftherios P;
Gamsjaeger, Sonja;
Raas-Rothschild, Annick;
Hövel, Matthias;
Jiao, Hong;
Klaushofer, Klaus;
Grasemann, Corinna;
Mäkitie, Outi

Publication type:

Article

Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase.

Published in:

Nature Medicine, 2005, v. 11, n. 10, p. 1109, doi. 10.1038/nm1305

By:

Tiede, Stephan;
Storch, Stephan;
Lübke, Torben;
Henrissat, Bernard;
Bargal, Ruth;
Raas-Rothschild, Annick;
Braulke, Thomas

Publication type:

Article

Ethical Dilemmas Linked to Fragile X Testing of Minors—a Preliminary Survey Among Professionals.

Published in:

Journal of Molecular Neuroscience, 2020, v. 70, n. 2, p. 254, doi. 10.1007/s12031-019-01445-2

By:

Gabis, Lidia V.;
Shefer, Shahar;
Raas-Rothschild, Annick

Publication type:

Article

Correction: Barak, S. et al. "Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings". Diagnostics 2020, 10, 108.

Published in:

2020

By:

Barak, Sharon;
Anikster, Yair;
Sarouk, Ifat;
Stern, Eve;
Eisenstein, Etzyona;
Yissar, Tamar;
Sherr-Lurie, Nir;
Raas-Rothschild, Annick;
Guttman, Dafna

Publication type:

Correction Notice

Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings.

Published in:

Diagnostics (2075-4418), 2020, v. 10, n. 2, p. 108, doi. 10.3390/diagnostics10020108

By:

Barak, Sharon;
Anikster, Yair;
Sarouk, Ifat;
Stern, Eve;
Eisenstein, Etzyona;
Yissar, Tamar;
Sherr-Lurie, Nir;
Raas-Rothschild, Annick;
Guttman, Dafna

Publication type:

Article

Nablus syndrome: Easy to diagnose yet difficult to solve.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 447, doi. 10.1002/ajmg.c.31660

By:

Allanson, Judith;
Smith, Amanda;
Forzano, Francesca;
Lin, Angela E.;
Raas‐Rothschild, Annick;
Howley, Heather E.;
Boycott, Kym M.

Publication type:

Article

LMOD3‐Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.

Published in:

Journal of Ultrasound in Medicine, 2018, v. 37, n. 7, p. 1827, doi. 10.1002/jum.14520

By:

Berkenstadt, Michal;
Barash, Hila;
Raas‐Rothschild, Annick;
Pode‐Shakked, Ben;
Barel, Ortal;
Achiron, Reuven;
Gilboa, Yinon;
Kidron, Dvora

Publication type:

Article

Mosaic Trisomy 14 in a Newborn with Multiple Malformations: When Chromosomal Microarray is a Clue to Diagnosis.

Published in:

Israel Medical Association Journal, 2015, v. 17, n. 7, p. 459

By:

Eventov-Friedman, Smadar;
Frumkin, Ayala;
Bar-Oz, Benjamin;
Raas-Rothschild, Annick

Publication type:

Article

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

Published in:

Pediatric Radiology, 2011, v. 41, n. 10, p. 1298, doi. 10.1007/s00247-011-2123-2

By:

Rozovsky, Katya;
Sosna, Jacob;
Merrer, Martine;
Simanovsky, Natalia;
Koplewitz, Benjamin Z.;
Bar-Ziv, Jacob;
Cormier-Daire, Valerie;
Raas-Rothschild, Annick

Publication type:

Article

Combined immunodeficiency in a patient with mosaic monosomy 21.

Published in:

Immunologic Research, 2016, v. 64, n. 4, p. 841, doi. 10.1007/s12026-016-8803-0

By:

Rechavi, Erez;
Levy-Mendelovich, Sarina;
Stauber, Tali;
Shamash, Jana;
Reinstein, Shlomit;
Vernitsky, Helly;
Adam, Dganit;
Simon, Amos;
Lev, Atar;
Raas-Rothschild, Annick;
Somech, Raz

Publication type:

Article

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

Published in:

Human Mutation, 2017, v. 38, n. 4, p. 365, doi. 10.1002/humu.23192

By:

Janecke, Andreas R.;
Xu, Ruijuan;
Steichen‐Gersdorf, Elisabeth;
Waldegger, Siegfried;
Entenmann, Andreas;
Giner, Thomas;
Krainer, Iris;
Huber, Lukas A;
Hess, Michael W;
Frishberg, Yaacov;
Barash, Hila;
Tzur, Shay;
Schreyer‐Shafir, Nira;
Sukenik–Halevy, Rivka;
Zehavi, Tania;
Raas‐Rothschild, Annick;
Mao, Cungui;
Müller, Thomas

Publication type:

Article

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 853, doi. 10.1002/humu.21523

By:

Nillesen, Willy M.;
Yntema, Helger G.;
Moscarda, Marco;
Verbeek, Nienke E.;
Wilson, Louise C.;
Cowan, Frances;
Schepens, Marga;
Raas-Rothschild, Annick;
Gafni-Weinstein, Orly;
Zollino, Marcella;
Vijzelaar, Raymon;
Neri, Giovanni;
Nelen, Marcel;
Bokhoven, Hans van;
Giltay, Jacques;
Kleefstra, Tjitske

Publication type:

Article

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.665

By:

Pode‐Shakked, Naomi;
Barel, Ortal;
Pode‐Shakked, Ben;
Eliyahu, Aviva;
Singer, Amihood;
Nayshool, Omri;
Kol, Nitzan;
Raas‐Rothschild, Annick;
Pras, Elon;
Shohat, Mordechai

Publication type:

Article

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.

Published in:

Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00425

By:

Greenbaum, Lior;
Pode-Shakked, Ben;
Eisenberg-Barzilai, Shlomit;
Dicastro-Keidar, Michal;
Bar-Ziv, Anat;
Goldstein, Nurit;
Reznik-Wolf, Haike;
Poran, Hana;
Rigbi, Amihai;
Barel, Ortal;
Bertoli-Avella, Aida M.;
Bauer, Peter;
Regev, Miriam;
Raas-Rothschild, Annick;
Pras, Elon;
Berkenstadt, Michal

Publication type:

Article

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00425

By:

Greenbaum, Lior;
Pode-Shakked, Ben;
Eisenberg-Barzilai, Shlomit;
Dicastro-Keidar, Michal;
Bar-Ziv, Anat;
Goldstein, Nurit;
Reznik-Wolf, Haike;
Poran, Hana;
Rigbi, Amihai;
Barel, Ortal;
Bertoli-Avella, Aida M.;
Bauer, Peter;
Regev, Miriam;
Raas-Rothschild, Annick;
Pras, Elon;
Berkenstadt, Michal

Publication type:

Article

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.

Published in:

2021

By:

Kristal, Eyal;
Pode-Shakked, Ben;
Hazan, Guy;
Banne, Ehud;
Ling, Galina;
David, Odeya;
Shany, Eilon;
Raas-Rothschild, Annick;
Anikster, Yair;
Kneller, Katya;
Hershkovitz, Eli;
Landau, Yuval E.;
Spiegel, Ronen;
Zehavi, Yoav;
Staretz-Chacham, Orna

Publication type:

journal article