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Author/Creator Pehlivan, Davut

1. Phenotypic expansion illuminates multilocus pathogenic variation. (December 2018)

Authors:
Karaca, Ender; Posey, Jennifer; Coban Akdemir, Zeynep; Pehlivan, Davut; Harel, Tamar; Jhangiani, Shalini; Bayram, Yavuz; Song, Xiaofei; Bahrambeigi, Vahid; Yuregir, Ozge Ozalp; Bozdogan, Sevcan; Yesil, Gozde; Isikay, Sedat; Muzny, Donna; Gibbs, Richard; Lupski, James
Journal:
Genetics in medicine
Issue:
Volume 20:Number 12(2018)
Page Start:
1528
Record Type:
Journal Article
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2. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Issue 8 (11th July 2019)

Authors:
Punetha, Jaya; Karaca, Ender; Gezdirici, Alper; Lamont, Ryan E.; Pehlivan, Davut; Marafi, Dana; Appendino, Juan P.; Hunter, Jill V.; Akdemir, Zeynep C.; Fatih, Jawid M.; Jhangiani, Shalini N.; Gibbs, Richard A.; Innes, A. Micheil; Posey, Jennifer E.; Lupski, James R.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 8(2019)
Page Start:
1395
Record Type:
Journal Article
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3. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. (June 2021)

Authors:
Calame, Daniel G.; Fatih, Jawid; Herman, Isabella; Akdemir, Zeynep Coban; Du, Haowei; Jhangiani, Shalini N.; Gibbs, Richard A.; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Lotze, Timothy; Mancias, Pedro; Bhattacharjee, Meenakshi Bidwai; Lupski, James R.
Journal:
Neurology
Issue:
Volume 7:Number 3(2021)
Page Start:
Record Type:
Journal Article
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5. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Issue 4 (8th February 2021)

Authors:
Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H.; Hickey, Scott E.; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A.; Armstrong‐Javors, Amy; Mencacci, Niccolò E.; Gonzàlez‐Latapi, Paulina; Kamel, Walaa A.; Al‐H...
Journal:
Annals of neurology
Issue:
Volume 89:Issue 4(2021)
Page Start:
828
Record Type:
Journal Article
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6. 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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7. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Issue 10 (15th September 2021)

Authors:
Calame, Daniel G.; Fatih, Jawid M.; Herman, Isabella; Coban‐Akdemir, Zeynep; Du, Haowei; Mitani, Tadahiro; Jhangiani, Shalini N.; Marafi, Dana; Gibbs, Richard A.; Posey, Jennifer E.; Mehta, Vidya P.; Mohila, Carrie A.; Abid, Farida; Lotze, Timothy E.; Pehlivan, Davut; Adesina, Adekunle M.; Lupski...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 8:Issue 10(2021)
Page Start:
2052
Record Type:
Journal Article
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9. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Issue 7 (24th March 2022)

Authors:
Taşdelen, Elifcan; Calame, Daniel G.; Akay, Gulsen; Mitani, Tadahiro; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Coban‐Akdemir, Zeynep; Marafi, Dana; Jhangiani, Shalini N.; Posey, Jennifer E.; Gibbs, Richard A.; Altıparmak, Taylan; Kutlay, Nüket Yürür; Lupski, James R.; Pehlivan, Davut
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 7(2022)
Page Start:
2153
Record Type:
Journal Article
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