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Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. [electronic resource] by
- Rajagopalan, Ramakrishnan
- Grochowski, Christopher M
- Gilbert, Melissa A
- Falsey, Alexandra M
- Coleman, Karlene
- Romero, Rene
- Loomes, Kathleen M
- Piccoli, David A
- Devoto, Marcella
- Spinner, Nancy B
Producer: 20161104
In:
American journal of medical genetics. Part A vol. 170
Availability: No items available.
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7.
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Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report. [electronic resource] by
- Kelsen, Judith R
- Dawany, Noor
- Martinez, Alejandro
- Grochowski, Christopher M
- Maurer, Kelly
- Rappaport, Eric
- Piccoli, David A
- Baldassano, Robert N
- Mamula, Petar
- Sullivan, Kathleen E
- Devoto, Marcella
Producer: 20160317
In:
BMC gastroenterology vol. 15
Availability: No items available.
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8.
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Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. [electronic resource] by
- Tsai, Ellen A
- Grochowski, Christopher M
- Loomes, Kathleen M
- Bessho, Kazuhiko
- Hakonarson, Hakon
- Bezerra, Jorge A
- Russo, Pierre A
- Haber, Barbara A
- Spinner, Nancy B
- Devoto, Marcella
Producer: 20140327
In:
Human genetics vol. 133
Availability: No items available.
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9.
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Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors. [electronic resource] by
- Izumi, Kosuke
- Hayashi, Daisuke
- Grochowski, Christopher M
- Kubota, Noriko
- Nishi, Eriko
- Arakawa, Michiko
- Hiroma, Takehiko
- Hatata, Tomoko
- Ogiso, Yoshifumi
- Nakamura, Tomohiko
- Falsey, Alexandra M
- Hidaka, Eiko
- Spinner, Nancy B
Producer: 20161025
In:
American journal of medical genetics. Part A vol. 170A
Availability: No items available.
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10.
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A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report. [electronic resource] by
- Kelsen, Judith R
- Dawany, Noor
- Martinez, Alejandro
- Martinez, Alejuandro
- Grochowski, Christopher M
- Maurer, Kelly
- Rappaport, Eric
- Piccoli, David A
- Baldassano, Robert N
- Mamula, Petar
- Sullivan, Kathleen E
- Devoto, Marcella
Producer: 20160715
In:
BMC gastroenterology vol. 15
Availability: No items available.
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11.
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A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. [electronic resource] by
- Chen, Ying
- Gilbert, Melissa A
- Grochowski, Christopher M
- McEldrew, Deborah
- Llewellyn, Jessica
- Waisbourd-Zinman, Orith
- Hakonarson, Hakon
- Bailey-Wilson, Joan E
- Russo, Pierre
- Wells, Rebecca G
- Loomes, Kathleen M
- Spinner, Nancy B
- Devoto, Marcella
Producer: 20190115
In:
PLoS genetics vol. 14
Availability: No items available.
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12.
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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. [electronic resource] by
- Grochowski, Christopher M
- Gu, Shen
- Yuan, Bo
- Tcw, Julia
- Brennand, Kristen J
- Sebat, Jonathan
- Malhotra, Dheeraj
- McCarthy, Shane
- Rudolph, Uwe
- Lindstrand, Anna
- Chong, Zechen
- Levy, Deborah L
- Lupski, James R
- Carvalho, Claudia M B
Producer: 20190614
In:
Human mutation vol. 39
Availability: No items available.
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13.
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None [electronic resource] by
- Tsai, Ellen A
- Gilbert, Melissa A
- Grochowski, Christopher M
- Underkoffler, Lara A
- Meng, He
- Zhang, Xiaojie
- Wang, Michael M
- Shitaye, Hailu
- Hankenson, Kurt D
- Piccoli, David
- Lin, Henry
- Kamath, Binita M
- Devoto, Marcella
- Spinner, Nancy B
- Loomes, Kathleen M
Publication details: Cellular and molecular gastroenterology and hepatology Sep 2016
In:
Cellular and molecular gastroenterology and hepatology vol. 2
Availability: No items available.
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14.
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Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. [electronic resource] by
- Bodkin, J Alexander
- Coleman, Michael J
- Godfrey, Laura J
- Carvalho, Claudia M B
- Morgan, Charity J
- Suckow, Raymond F
- Anderson, Thea
- Öngür, Dost
- Kaufman, Marc J
- Lewandowski, Kathryn E
- Siegel, Arthur J
- Waldstreicher, Elliot
- Grochowski, Christopher M
- Javitt, Daniel C
- Rujescu, Dan
- Hebbring, Scott
- Weinshilboum, Richard
- Rodriguez, Stephanie Burgos
- Kirchhoff, Colette
- Visscher, Timothy
- Vuckovic, Alexander
- Fialkowski, Allison
- McCarthy, Shane
- Malhotra, Dheeraj
- Sebat, Jonathan
- Goff, Donald C
- Hudson, James I
- Lupski, James R
- Coyle, Joseph T
- Rudolph, Uwe
- Levy, Deborah L
Producer: 20200701
In:
Biological psychiatry vol. 86
Availability: No items available.
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15.
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. [electronic resource] by
- Pehlivan, Davut
- Bayram, Yavuz
- Gunes, Nilay
- Coban Akdemir, Zeynep
- Shukla, Anju
- Bierhals, Tatjana
- Tabakci, Burcu
- Sahin, Yavuz
- Gezdirici, Alper
- Fatih, Jawid M
- Gulec, Elif Yilmaz
- Yesil, Gozde
- Punetha, Jaya
- Ocak, Zeynep
- Grochowski, Christopher M
- Karaca, Ender
- Albayrak, Hatice Mutlu
- Radhakrishnan, Periyasamy
- Erdem, Haktan Bagis
- Sahin, Ibrahim
- Yildirim, Timur
- Bayhan, Ilhan A
- Bursali, Aysegul
- Elmas, Muhsin
- Yuksel, Zafer
- Ozdemir, Ozturk
- Silan, Fatma
- Yildiz, Onur
- Yesilbas, Osman
- Isikay, Sedat
- Balta, Burhan
- Gu, Shen
- Jhangiani, Shalini N
- Doddapaneni, Harsha
- Hu, Jianhong
- Muzny, Donna M
- Boerwinkle, Eric
- Gibbs, Richard A
- Tsiakas, Konstantinos
- Hempel, Maja
- Girisha, Katta Mohan
- Gul, Davut
- Posey, Jennifer E
- Elcioglu, Nursel H
- Tuysuz, Beyhan
- Lupski, James R
Producer: 20200311
In:
American journal of human genetics vol. 105
Availability: No items available.
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16.
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. [electronic resource] by
- Paine, Ingrid
- Posey, Jennifer E
- Grochowski, Christopher M
- Jhangiani, Shalini N
- Rosenheck, Sarah
- Kleyner, Robert
- Marmorale, Taylor
- Yoon, Margaret
- Wang, Kai
- Robison, Reid
- Cappuccio, Gerarda
- Pinelli, Michele
- Magli, Adriano
- Coban Akdemir, Zeynep
- Hui, Joannie
- Yeung, Wai Lan
- Wong, Bibiana K Y
- Ortega, Lucia
- Bekheirnia, Mir Reza
- Bierhals, Tatjana
- Hempel, Maja
- Johannsen, Jessika
- Santer, René
- Aktas, Dilek
- Alikasifoglu, Mehmet
- Bozdogan, Sevcan
- Aydin, Hatip
- Karaca, Ender
- Bayram, Yavuz
- Ityel, Hadas
- Dorschner, Michael
- White, Janson J
- Wilichowski, Ekkehard
- Wortmann, Saskia B
- Casella, Erasmo B
- Kitajima, Joao Paulo
- Kok, Fernando
- Monteiro, Fabiola
- Muzny, Donna M
- Bamshad, Michael
- Gibbs, Richard A
- Sutton, V Reid
- Van Esch, Hilde
- Brunetti-Pierri, Nicola
- Hildebrandt, Friedhelm
- Brautbar, Ariel
- Van den Veyver, Ignatia B
- Glass, Ian
- Lessel, Davor
- Lyon, Gholson J
- Lupski, James R
Producer: 20200316
In:
American journal of human genetics vol. 105
Availability: No items available.
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