1. A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds. Issue 5 (7th March 2020) Authors: 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 Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 987 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. (21st January 2015) Authors: Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton‐Smith, Jill; Kinning, Esther; Mansour, Sahar; Elms... Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family. Issue 6 (24th April 2019) Authors: Pode‐Shakked, Naomi; Barel, Ortal; Pode‐Shakked, Ben; Eliyahu, Aviva; Singer, Amihood; Nayshool, Omri; Kol, Nitzan; Raas‐Rothschild, Annick; Pras, Elon; Shohat, Mordechai Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 6(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. Issue 4 (6th March 2017) Authors: 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, Annic... Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: 365 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. LMOD3‐Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings. (13th January 2018) Authors: Berkenstadt, Michal; Pode‐Shakked, Ben; Barel, Ortal; Barash, Hila; Achiron, Reuven; Gilboa, Yinon; Kidron, Dvora; Raas‐Rothschild, Annick Journal: Journal of ultrasound in medicine Issue: Volume 37:Number 7(2018) Page Start: 1827 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Nablus syndrome: Easy to diagnose yet difficult to solve. Issue 4 (22nd December 2018) Authors: Allanson, Judith; Smith, Amanda; Forzano, Francesca; Lin, Angela E.; Raas‐Rothschild, Annick; Howley, Heather E.; Boycott, Kym M. Other Names: Boycott Kym guestEditor.; Innes Micheil guestEditor.; Dyment David guestEditor. Journal: American journal of medical genetics Issue: Volume 178:Issue 4(2018) Page Start: 447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome). Issue 1 (29th November 2019) Authors: 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, Jam... Journal: American journal of medical genetics Issue: Volume 182:Issue 1(2020) Page Start: 38 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization. (6th September 2017) Authors: 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 Journal: Journal of bone and mineral research Issue: Volume 32:Number 12(2017:Dec.) Page Start: 2394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. Issue 11 (15th August 2022) Authors: 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 Journal: American journal of medical genetics Issue: Volume 188:Issue 11(2022) Page Start: 3262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease. (27th April 2014) Authors: Schreyer‐Shafir, Nira; Sukenik‐Halevy, Rivka; Tepper, Ronnie; Arnon, Schmuel; Litmanovitch, Itta; Eliakim, Alon; Pommeranz, Avishalom; Ludman, Mark David; Raas‐Rothschild, Annick Journal: Prenatal diagnosis Issue: Volume 34:Number 6(2014:Jun.) Page Start: 608 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗