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Author/Creator Tarpinian, Jennifer

1. 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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2. De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. Issue 4 (15th February 2018)

Authors:
Pinz, Hailey; Pyle, Louise C.; Li, Dong; Izumi, Kosuke; Skraban, Cara; Tarpinian, Jennifer; Braddock, Stephen R.; Telegrafi, Aida; Monaghan, Kristin G.; Zackai, Elaine; Bhoj, Elizabeth J.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 4(2018)
Page Start:
969
Record Type:
Journal Article
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3. Evaluation and classification of severity for 176 genes on an expanded carrier screening panel. (16th June 2020)

Authors:
Arjunan, Aishwarya; Bellerose, Holly; Torres, Raul; Ben‐Shachar, Rotem; Hoffman, Jodi D.; Angle, Brad; Slotnick, Robert Nathan; Simpson, Brittany N.; Lewis, Andrea M.; Magoulas, Pilar L.; Bontempo, Kelly; Schulze, Jeanine; Tarpinian, Jennifer; Bucher, Jessica A.; Dineen, Richard; Goetsch, Allison...
Journal:
Prenatal diagnosis
Issue:
Volume 40:Number 10(2020)
Page Start:
1246
Record Type:
Journal Article
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4. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Issue 4 (4th February 2019)

Authors:
Grand, Katheryn; Gonzalez‐Gandolfi, Christina; Ackermann, Amanda M.; Aljeaid, Deema; Bedoukian, Emma; Bird, Lynne M.; De Leon, Diva D.; Diaz, Jullianne; Hopkin, Robert J.; Kadakia, Sejal P.; Keena, Beth; Klein, Karen O.; Krantz, Ian; Leon, Eyby; Lord, Katherine; McDougall, Carey; Medne, Livija; S...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 4(2019)
Page Start:
542
Record Type:
Journal Article
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5. Nonlethal presentations of CYP26B1‐related skeletal anomalies and multiple synostoses syndrome. Issue 9 (23rd June 2021)

Authors:
Grand, Katheryn; Skraban, Cara M.; Cohen, Jennifer L.; Dowsett, Leah; Mazzola, Sarah; Tarpinian, Jennifer; Bedoukian, Emma; Nesbitt, Addie; Denenberg, Beth; Lulis, Lauren; Santani, Avni; Zackai, Elaine H.; Deardorff, Matthew A.
Other Names:
Burkardt Deepika D'Cunha guestEditor.; Sanchez‐Lara Pedro A guestEditor.; Girisha Katta M guestEditor.; Carey John C guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 9(2021)
Page Start:
2766
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗