1. 16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome. Issue 1 (16th May 2019) Authors: Kloth, Katja; Renner, Sina; Burmester, Gunter; Steinemann, Doris; Pabst, Brigitte; Lorenz, Birgit; Simon, Ronald; Kolbe, Verena; Hempel, Maja; Rosenberger, Georg Journal: Clinical genetics Issue: Volume 96:Issue 1(2019) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. Issue 6 (23rd April 2013) Authors: Salem, Nabeel J.M.; Hempel, Maja; Heiliger, Katrin‐Janine; Hosie, Stuart; Meitinger, Thomas; Oexle, Konrad Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1421 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Issue 2 (8th June 2022) Authors: Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Al Alam, Chadi; Alesi, Viola; Benoit, Valérie; Bhatia, Kailash P.; Bierhals, Tatjana; Boßelmann, Christian M.; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, P... Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cohen syndrome diagnosis using whole genome arrays. Issue 2 (4th October 2010) Authors: Rivera-Brugués, Nuria; Albrecht, Beate; Wieczorek, Dagmar; Schmidt, Heinrich; Keller, Thomas; Göhring, Ina; Ekici, Arif B; Tzschach, Andreas; Garshasbi, Masoud; Franke, Kathlen; Klopp, Norman; Wichmann, H-Erich; Meitinger, Thomas; Strom, Tim M; Hempel, Maja Journal: Journal of medical genetics Issue: Volume 48:Issue 2(2011) Page Start: 136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Issue 12 (14th May 2020) Authors: Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpe... Journal: Journal of medical genetics Issue: Volume 57:Issue 12(2020) Page Start: 808 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center. Issue 1 (1st March 2021) Authors: Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpál, Ján; Havránková, Petra; Pavele... Journal: Clinical genetics Issue: Volume 100:Issue 1(2021) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnostic accuracy of random massively parallel sequencing for non‐invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. (12th December 2013) Authors: Stumm, Markus; Entezami, Michael; Haug, Karsten; Blank, Cornelia; Wüstemann, Max; Schulze, Bernt; Raabe‐Meyer, Gisela; Hempel, Maja; Schelling, Markus; Ostermayer, Eva; Langer‐Freitag, Sabine; Burkhardt, Tilo; Zimmermann, Roland; Schleicher, Tina; Weil, Bernd; Schöck, Ulrike; Smerdka, Patricia; G... Journal: Prenatal diagnosis Issue: Volume 34:Number 2(2014:Feb.) Page Start: 185 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia. Issue 5 (14th October 2021) Authors: Schob, Claudia; Hempel, Maja; Safka Brozkova, Dana; Jiang, Huafang; Kim, Soo Yeon; Batzir, Nurit Assia; Orenstein, Naama; Bierhals, Tatjana; Johannsen, Jessika; Uhrova Meszarosova, Anna; Chae, Jong‐Hee; Seeman, Pavel; Woidy, Mathias; Fang, Fang; Kubisch, Christian; Kindler, Stefan; Denecke, Jonas Journal: Annals of neurology Issue: Volume 90:Issue 5(2021) Page Start: 738 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Issue 2 (6th December 2011) Authors: Klopocki, Eva; Lohan, Silke; Doelken, Sandra C; Stricker, Sigmar; Ockeloen, Charlotte W; Soares Thiele de Aguiar, Renata; Lezirovitz, Karina; Mingroni Netto, Regina Celia; Jamsheer, Aleksander; Shah, Hitesh; Kurth, Ingo; Habenicht, Rolf; Warman, Matthew; Devriendt, Koenraad; Kordaß, Ulrike; Hempe... Journal: Journal of medical genetics Issue: Volume 49:Issue 2(2012) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5. Issue 4 (9th August 2020) Authors: Eggermann, Thomas; Kraft, Florian; Kloth, Katja; Klopocki, Eva; Hüning, Irina; Hempel, Maja; Kunstmann, Erdmute Journal: Clinical genetics Issue: Volume 98:Issue 4(2020) Page Start: 418 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗