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Author/Creator Conlin, Laura

1. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). (October 2018)

Authors:
Waggoner, Darrel; Wain, Karen; Dubuc, Adrian; Conlin, Laura; Hickey, Scott; Lamb, Allen; Martin, Christa; Morton, Cynthia; Rasmussen, Kristen; Schuette, Jane; Schwartz, Stuart; Miller, David
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1105
Record Type:
Journal Article
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2. Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. (October 2018)

Authors:
Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S; Pennington, Jeffrey; Lou, Minjie; Con...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1298
Record Type:
Journal Article
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3. Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes. Issue 12 (10th October 2018)

Authors:
Carson, Jason C.; Hoffner, Lori; Conlin, Laura; Parks, W. Tony; Fisher, Rosemary A.; Spinner, Nancy; Yatsenko, Svetlana A.; Bonadio, Jeffrey; Surti, Urvashi
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2720
Record Type:
Journal Article
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4. Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. (November 2018)

Authors:
Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S; Pennington, Jeffrey; Luo, Minjie; Con...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 11(2018)
Page Start:
1486
Record Type:
Journal Article
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5. Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. (December 2018)

Authors:
Sheppard, Sarah; Biswas, Sawona; Li, Mindy; Jayaraman, Vijayakumar; Slack, Ian; Romasko, Edward; Sasson, Ariella; Brunton, Joshua; Rajagopalan, Ramakrishnan; Sarmady, Mahdi; Abrudan, Jenica; Jairam, Sowmya; DeChene, Elizabeth; Ying, Xiahoan; Choi, Jiwon; Wilkens, Alisha; Raible, Sarah; Scarano, M...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 12(2018)
Page Start:
1663
Record Type:
Journal Article
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6. AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. (December 2018)

Authors:
Guan, Qiaoning; Balciuniene, Jorune; Cao, Kajia; Fan, Zhiqian; Biswas, Sawona; Wilkens, Alisha; Gallo, Daniel; Bedoukian, Emma; Tarpinian, Jennifer; Jayaraman, Pushkala; Sarmady, Mahdi; Dulik, Matthew; Santani, Avni; Spinner, Nancy; Abou Tayoun, Ahmad; Krantz, Ian; Conlin, Laura; Luo, Minjie
Journal:
Genetics in medicine
Issue:
Volume 20:Number 12(2018)
Page Start:
1600
Record Type:
Journal Article
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7. Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Issue 1 (December 2015)

Authors:
Li, Mindy; Abrudan, Jenica; Dulik, Matthew; Sasson, Ariella; Brunton, Joshua; Jayaraman, Vijayakumar; Dugan, Noreen; Haley, Danielle; Rajagopalan, Ramakrishnan; Biswas, Sawona; Sarmady, Mahdi; DeChene, Elizabeth; Deardorff, Matthew; Wilkens, Alisha; Noon, Sarah; Scarano, Maria; Santani, Avni; Whi...
Journal:
Human genomics
Issue:
Volume 9:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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8. EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features. Issue 5 (4th June 2015)

Authors:
Ganetzky, Rebecca; Finn, Erin; Bagchi, Atrish; Zollo, Ornella; Conlin, Laura; Deardorff, Matthew; Harr, Margaret; Simpson, Michael A.; McGrath, John A.; Zackai, Elaine; Lemmon, Mark A.; Sondheimer, Neal
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 5(2015:Sep.)
Page Start:
452
Record Type:
Journal Article
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