1. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. Issue 10 (9th July 2015) Authors: Ansar, Muhammad; Raza, Syed Irfan; Lee, Kwanghyuk; Irfanullah, ; Shahi, Shamim; Acharya, Anushree; Dai, Hang; Smith, Joshua D; Shendure, Jay; Bamshad, Michael J; Nickerson, Deborah A; Santos-Cortez, Regie Lyn P; Ahmad, Wasim; Leal, Suzanne M Other Names: contributor. Journal: Journal of medical genetics Issue: Volume 52:Issue 10(2015) Page Start: 676 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter–Thompson type. (10th January 2018) Authors: Ullah, Asmat; Umair, Muhammad; Muhammad, Dost; Bilal, Muhammad; Lee, Kwanghyuk; Leal, Suzanne M; Ahmad, Wasim Journal: Annals of human genetics Issue: Volume 82:Number 3(2018:May) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family. Issue 6 (7th March 2023) Authors: Guo, Dong‐chuan; Duan, Xueyan; Mimnagh, Kathleen; Cecchi, Alana C.; Marin, Isabella C.; Yu, Yang; Velasco, Walter V.; Lee, Kwanghyuk; Zhu, Xue; Murdock, David R.; Leal, Suzanne M.; Wheeler, Marsha M.; Smith, Josh; Bamshad, Michael J.; Milewicz, Dianna M. Journal: Clinical genetics Issue: Volume 103:Issue 6(2023) Page Start: 704 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. (1st November 2011) Authors: Lee, Kwanghyuk; Amin ud Din, Mohammad; Ansar, Muhammad; Santos-Cortez, Regie Lyn P.; Ahmad, Wasim; Leal, Suzanne M. Other Names: Friderici Karen Academic Editor. Journal: Genetics research international Issue: Volume 2011(2011) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. EPIMUTESTR: a nearest neighbor machine learning approach to predict cancer driver genes from the evolutionary action of coding variants. Issue 12 (12th April 2022) Authors: Parvandeh, Saeid; Donehower, Lawrence A; Panagiotis, Katsonis; Hsu, Teng-Kuei; Asmussen, Jennifer K; Lee, Kwanghyuk; Lichtarge, Olivier Journal: Nucleic acids research Issue: Volume 50:Issue 12(2022) Page Start: e70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. (5th November 2018) Authors: Schrauwen, Isabelle; Giese, Arnaud PJ; Aziz, Abdul; Lafont, David Tino; Chakchouk, Imen; Santos‐Cortez, Regie Lyn P; Lee, Kwanghyuk; Acharya, Anushree; Khan, Falak Sher; Ullah, Asmat; Nickerson, Deborah A; Bamshad, Michael J; Ali, Ghazanfar; Riazuddin, Saima; Ansar, Muhammad; Ahmad, Wasim; Ahmed,... Journal: Journal of bone and mineral research Issue: Volume 34:Number 2(2019) Page Start: 375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Issue 1 (18th November 2018) Authors: Richard, Elodie M.; Santos‐Cortez, Regie Lyn P.; Faridi, Rabia; Rehman, Atteeq U.; Lee, Kwanghyuk; Shahzad, Mohsin; Acharya, Anushree; Khan, Asma A.; Imtiaz, Ayesha; Chakchouk, Imen; Takla, Christina; Abbe, Izoduwa; Rafeeq, Maria; Liaqat, Khurram; Chaudhry, Taimur; Bamshad, Michael J.; Nickerson,... Journal: Human mutation Issue: Volume 40:Issue 1(2019) Page Start: 53 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. Issue 1 (December 2016) Authors: Shah, Khadim; Ali, Raja; Ansar, Muhammad; Lee, Kwanghyuk; Chishti, Muhammad; Abbe, Izoduwa; Li, Biao; Smith, Joshua; Nickerson, Deborah; Shendure, Jay; Coucke, Paul; Steyaert, Wouter; Bamshad, Michael; Santos-Cortez, Regie; Leal, Suzanne; Ahmad, Wasim Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Issue 10 (21st August 2016) Authors: Rehman, Atteeq U.; Bird, Jonathan E.; Faridi, Rabia; Shahzad, Mohsin; Shah, Sujay; Lee, Kwanghyuk; Khan, Shaheen N.; Imtiaz, Ayesha; Ahmed, Zubair M.; Riazuddin, Saima; Santos‐Cortez, Regie Lyn P.; Ahmad, Wasim; Leal, Suzanne M.; Riazuddin, Sheikh; Friedman, Thomas B. Journal: Human mutation Issue: Volume 37:Issue 10(2016) Page Start: 991 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel missense and 3′-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. Issue 11 (November 2018) Authors: Liaqat, Khurram; Chiu, Ilene; Lee, Kwanghyuk; Chakchouk, Imen; Andrade-Elizondo, Paula; Santos-Cortez, Regie; Hussain, Shabir; Nawaz, Shoaib; Ansar, Muhammad; Khan, Muhammad; Basit, Sulman; Schrauwen, Isabelle; Ahmad, Wasim; Leal, Suzanne Journal: Journal of human genetics Issue: Volume 63:Issue 11(2018) Page Start: 1099 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗