1. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Issue 2 (25th November 2019) Authors: Ngo, Kathie J.; Rexach, Jessica E.; Lee, Hane; Petty, Lauren E.; Perlman, Susan; Valera, Juliana M.; Deignan, Joshua L.; Mao, Yuanming; Aker, Mamdouh; Posey, Jennifer E.; Jhangiani, Shalini N.; Coban‐Akdemir, Zeynep H.; Boerwinkle, Eric; Muzny, Donna; Nelson, Alexandra B.; Hassin‐Baer, Sharon; Po... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer. Issue 4 (2nd October 2018) Authors: McKeown, Colina; Connors, Samantha; Stapleton, Rachel; Morgan, Tim; Hayes, Ian; Neas, Katherine; Dixon, Joanne; Gibson, Kate; Markie, David M.; Tsai, Peter; Blenkiron, Cherie; Fitzgerald, Sandra; Shields, Paula; Yap, Patrick; Lawrence, Ben; Print, Cristin; Robertson, Stephen P. Journal: Journal of the Royal Society of New Zealand Issue: Volume 48:Issue 4(2018) Page Start: 262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome. Issue 5 (24th February 2020) Authors: Ayoub, Sandy; Ghali, Neeti; Angwin, Chloe; Baker, Duncan; Baffini, Stella; Brady, Angela F.; Giovannucci Uzielli, Maria Luisa; Giunta, Cecilia; Johnson, Diana S.; Kosho, Tomoki; Neas, Katherine; Pope, F. Michael; Rutsch, Frank; Scarselli, Gloria; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fle... Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 994 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures. Issue 12 (24th September 2014) Authors: Thevenon, Julien; Monnier, Nicole; Callier, Patrick; Dieterich, Klaus; Francoise, Michel; Montgomery, Tara; Kjaergaard, Susanne; Neas, Katherine; Dixon, Joanne; Dahm, Thomas Lee; Huet, Frédéric; Ragon, Clémence; Mosca‐Boidron, Anne‐Laure; Marle, Nathalie; Duplomb, Laurence; Aubriot‐Lorton, Marie‐... Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3027 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand. (14th December 2021) Authors: Gear, Russell; Poke, Gemma; Neas, Katherine; Finnigan, Jacqui; Cassidy, Sharon; Forsyth, Deanna; Blishen, Mo; Purvis, Diana Journal: Australasian journal of dermatology Issue: Volume 63:Number 1(2022) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. FOXP1-related intellectual disability syndrome: a recognisable entity. Issue 9 (22nd July 2017) Authors: Meerschaut, Ilse; Rochefort, Daniel; Revençu, Nicole; Pètre, Justine; Corsello, Christina; Rouleau, Guy A; Hamdan, Fadi F; Michaud, Jacques L; Morton, Jenny; Radley, Jessica; Ragge, Nicola; García-Miñaúr, Sixto; Lapunzina, Pablo; Bralo, Maria Palomares; Mori, Maria Ángeles; Moortgat, Stéphanie; B... Journal: Journal of medical genetics Issue: Volume 54:Issue 9(2017) Page Start: 613 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Issue 10 (29th July 2022) Authors: Hardcastle, Amy; Berry, Aliska M.; Campbell, Ian M.; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E.; Rosenfeld, Jill A.; Sisoudiya, Saumya D.; Hernandez‐Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L.; Capolino, Rossella; Digilio, Maria C.; Graziani, Ludovico;... Journal: American journal of medical genetics Issue: Volume 188:Issue 10(2022) Page Start: 2958 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. Issue 12 (7th June 2017) Authors: Kruszka, Paul; Tanpaiboon, Pranoot; Neas, Katherine; Crosby, Kathleen; Berger, Seth I; Martinez, Ariel F; Addissie, Yonit A; Pongprot, Yupada; Sittiwangkul, Rekwan; Silvilairat, Suchaya; Makonkawkeyoon, Krit; Yu, Lan; Wynn, Julia; Bennett, James T; Mefford, Heather C; Reynolds, William T; Liu, Xi... Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 825 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. (February 2021) Authors: Waddell, Leigh B.; Bryen, Samantha J.; Cummings, Beryl B.; Bournazos, Adam; Evesson, Frances J.; Joshi, Himanshu; Marshall, Jamie L.; Tukiainen, Taru; Valkanas, Elise; Weisburd, Ben; Sadedin, Simon; Davis, Mark R.; Faiz, Fathimath; Gooding, Rebecca; Sandaradura, Sarah A.; O'Grady, Gina L.; Tchan,... Journal: Neurology Issue: Volume 7:Number 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗