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Author/Creator Agrawal, Pankaj B.

1. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. Issue 7 (22nd April 2019)

Authors:
Edward, Heather L.; D'Gama, Alissa M.; Wojcik, Monica H.; Brownstein, Catherine A.; Kenna, Margaret A.; Grant, P. Ellen; Majzoub, Joseph A.; Agrawal, Pankaj B.
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 7(2019)
Page Start:
1299
Record Type:
Journal Article
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2. 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
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3. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Issue 1 (24th October 2020)

Authors:
Dyment, David A.; O'Donnell‐Luria, Anne; Agrawal, Pankaj B.; Coban Akdemir, Zeynep; Aleck, Kyrieckos A.; Antaki, Danny; Al Sharhan, Hind; Au, Ping‐Yee B.; Aydin, Hatip; Beggs, Alan H.; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A.; Buyske, Steve; Chodirker, Bernard; ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
119
Record Type:
Journal Article
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5. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Issue 1 (21st October 2019)

Authors:
Boone, Philip M.; Paterson, Scott; Mohajeri, Kiana; Zhu, Wenmiao; Genetti, Casie A.; Tai, Derek J. C.; Nori, Neeharika; Agrawal, Pankaj B.; Bacino, Carlos A.; Bi, Weimin; Talkowski, Michael E.; Hogan, Benjamin M.; Rodan, Lance H.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 1(2020)
Page Start:
189
Record Type:
Journal Article
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7. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Issue 12 (27th August 2018)

Authors:
Wojcik, Monica H.; Okada, Kyoko; Prabhu, Sanjay P.; Nowakowski, Dan W.; Ramsey, Keri; Balak, Chris; Rangasamy, Sampath; Brownstein, Catherine A.; Schmitz‐Abe, Klaus; Cohen, Julie S.; Fatemi, Ali; Shi, Jiahai; Grant, Ellen P.; Narayanan, Vinodh; Ho, Hsin‐Yi Henry; Agrawal, Pankaj B.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2623
Record Type:
Journal Article
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8. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Issue 4 (30th January 2022)

Authors:
Gofin, Yoel; Wang, Tianyun; Gillentine, Madelyn A.; Scott, Tiana M.; Berry, Aliska M.; Azamian, Mahshid S.; Genetti, Casie; Agrawal, Pankaj B.; Picker, Jonathan; Wojcik, Monica H.; Delgado, Mauricio R.; Lynch, Sally A.; Scherer, Stephen W.; Howe, Jennifer L.; Bacino, Carlos A.; DiTroia, Stephanie...
Journal:
Human mutation
Issue:
Volume 43:Issue 4(2022)
Page Start:
461
Record Type:
Journal Article
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10. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Issue 1 (9th October 2020)

Authors:
D'Gama, Alissa M.; England, Eleina; Madden, Jill A.; Shi, Jiahai; Chao, Katherine R.; Wojcik, Monica H.; Torres, Alcy R.; Tan, Wen‐Hann; Berry, Gerard T.; Prabhu, Sanjay P.; Agrawal, Pankaj B.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
203
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗