1. De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome. (19th August 2015) Authors: Amarillo, Ina E.; O'Connor, Shawn; Lee, Caroline K.; Willing, Marcia; Wambach, Jennifer A. Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 2966 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Issue 1 (December 2018) Authors: Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance; Nowak, Catherine; Douglas, Jessica; Swoboda, Kathryn; Steeves, Marcie; Sahai, Inderneel; Stumpel, Connie; Stegmann, Alexander; Wheeler, Patricia; Willing, Marcia; Fiala, Elise;... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019) Authors: Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ... Other Names: investigator. Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019) Authors: Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Piatek, Stefan G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ... Other Names: investigator. Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Pregnancy after aortic root replacement in Loeys–Dietz syndrome: High risk of aortic dissection. Issue 8 (29th April 2016) Authors: Braverman, Alan C.; Moon, Marc R.; Geraghty, Patrick; Willing, Marcia; Bach, Christopher; Kouchoukos, Nicholas T. Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. Issue 3 (24th November 2015) Authors: Zhang, Bin; Willing, Marcia; Grange, Dorothy K.; Shinawi, Marwan; Manwaring, Linda; Vineyard, Marisa; Kulkarni, Shashikant; Cottrell, Catherine E. Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 583 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses. Issue 2 (13th November 2020) Authors: Granadillo, Jorge L.; Wegner, Daniel J.; Paul, Alexander J.; Willing, Marcia; Sisco, Kathleen; Tedder, Matthew L.; Sadikovic, Bekim; Wambach, Jennifer A.; Baldridge, Dustin; Cole, Francis Sessions Journal: American journal of medical genetics Issue: Volume 185:Issue 2(2021) Page Start: 544 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Ectopia lentis in Loeys‐Dietz syndrome type 4. Issue 8 (28th May 2020) Authors: Braverman, Alan C.; Blinder, Kevin J.; Khanna, Sangeeta; Willing, Marcia Journal: American journal of medical genetics Issue: Volume 182:Issue 8(2020) Page Start: 1957 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Issue 11 (12th September 2017) Authors: Amyere, Mustapha; Revencu, Nicole; Helaers, Raphaël; Pairet, Eleonore; Baselga, Eulalia; Cordisco, Maria; Chung, Wendy; Dubois, Josée; Lacour, Jean-Philippe; Martorell, Loreto; Mazereeuw-Hautier, Juliette; Pyeritz, Reed E.; Amor, David J.; Bisdorff, Annouk; Blei, Francine; Bombei, Hannah; Dompmar... Journal: Circulation Issue: Volume 136:Issue 11(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗