1. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Issue 4 (5th February 2020) Authors: D'Gama, Alissa M.; Brucker, William J.; Zhang, Tian; Gubbels, Cynthia S.; Ferdinandusse, Sacha; Shi, Jiahai; Grant, Patricia Ellen; VanNoy, Grace; Genetti, Casie A.; Juusola, Jane; Yu, Timothy W.; Kritzer, Amy; Agrawal, Pankaj B. Journal: American journal of medical genetics Issue: Volume 182:Issue 4(2020) Page Start: 780 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Are we prepared to deliver gene‐targeted therapies for rare diseases?. Issue 1 (24th January 2023) Authors: Yu, Timothy W.; Kingsmore, Stephen F.; Green, Robert C.; MacKenzie, Tippi; Wasserstein, Melissa; Caggana, Michele; Gold, Nina B.; Kennedy, Annie; Kishnani, Priya S.; Might, Matthew; Brooks, Phillip J.; Morris, Jill A.; Parisi, Melissa A.; Urv, Tiina K. Other Names: Urv Tiina guestEditor.; Parisi Melissa guestEditor. Journal: American journal of medical genetics Issue: Volume 193:Issue 1(2023) Page Start: 7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. BRAT1 mutations present with a spectrum of clinical severity. Issue 9 (9th June 2016) Authors: Srivastava, Siddharth; Olson, Heather E.; Cohen, Julie S.; Gubbels, Cynthia S.; Lincoln, Sharyn; Davis, Brigette Tippin; Shahmirzadi, Layla; Gupta, Siddharth; Picker, Jonathan; Yu, Timothy W.; Miller, David T.; Soul, Janet S.; Poretti, Andrea; Naidu, SakkuBai Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cover Image, Volume 39, Issue 1. Issue 1 (7th December 2017) Authors: Marsh, Ashley P. L.; Edwards, Timothy J.; Galea, Charles; Cooper, Helen M.; Engle, Elizabeth C.; Jamuar, Saumya S.; Méneret, Aurélie; Moutard, Marie‐Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer‐Smith, Megan; Trouillard, Oriane; Billette de Villeme... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Data sharing to advance gene‐targeted therapies in rare diseases. Issue 1 (3rd January 2023) Authors: Lekstrom‐Himes, Julie; Augustine, Erika F.; Brower, Amy; Defay, Thomas; Finkel, Richard S.; McGuire, Amy L.; Skinner, Mark W.; Yu, Timothy W. Other Names: Urv Tiina guestEditor.; Parisi Melissa guestEditor. Journal: American journal of medical genetics Issue: Volume 193:Issue 1(2023) Page Start: 87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Issue 1 (11th November 2017) Authors: Marsh, Ashley P. L.; Edwards, Timothy J.; Galea, Charles; Cooper, Helen M.; Engle, Elizabeth C.; Jamuar, Saumya S.; Méneret, Aurélie; Moutard, Marie‐Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer‐Smith, Megan; Trouillard, Oriane; Billette de Villeme... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2. Issue 3 (12th May 2014) Authors: Chaste, Pauline; Sanders, Stephan J.; Mohan, Kommu N.; Klei, Lambertus; Song, Youeun; Murtha, Michael T.; Hus, Vanessa; Lowe, Jennifer K.; Willsey, A. Jeremy; Moreno‐De‐Luca, Daniel; Yu, Timothy W.; Fombonne, Eric; Geschwind, Daniel; Grice, Dorothy E.; Ledbetter, David H.; Lord, Catherine; Mane, ... Journal: Autism research Issue: Volume 7:Issue 3(2014:Jun.) Page Start: 355 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies. Issue 1 (4th February 2023) Authors: Lekstrom‐Himes, Julie; Brooks, P J; Koeberl, Dwight D.; Brower, Amy; Goldenberg, Aaron; Green, Robert C.; Morris, Jill A.; Orsini, Joseph J.; Yu, Timothy W.; Augustine, Erika F. Other Names: Urv Tiina guestEditor.; Parisi Melissa guestEditor. Journal: American journal of medical genetics Issue: Volume 193:Issue 1(2023) Page Start: 30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Issue 10 (14th September 2021) Authors: Yabumoto, Megan; Kianmahd, Jessica; Singh, Meghna; Palafox, Maria F.; Wei, Angela; Elliott, Kathryn; Goodloe, Dana H.; Dean, S. Joy; Gooch, Catherine; Murray, Brianna K.; Swartz, Erin; Schrier Vergano, Samantha A.; Towne, Meghan C.; Nugent, Kimberly; Roeder, Elizabeth R.; Kresge, Christina; Pletc... Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 10(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Issue 5 (16th February 2016) Authors: Brownstein, Catherine A.; Kleiman, Robin J.; Engle, Elizabeth C.; Towne, Meghan C.; D'Angelo, Eugene J.; Yu, Timothy W.; Beggs, Alan H.; Picker, Jonathan; Fogler, Jason M.; Carroll, Devon; Schmitt, Rachel C. O.; Wolff, Robert R.; Shen, Yiping; Lip, Va; Bilguvar, Kaya; Kim, April; Tembulkar, Sahil... Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗