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Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. [electronic resource] by
- D'Alessandro, Lisa C A
- Al Turki, Saeed
- Manickaraj, Ashok Kumar
- Manase, Dorin
- Mulder, Barbara J M
- Bergin, Lynn
- Rosenberg, Herschel C
- Mondal, Tapas
- Gordon, Elaine
- Lougheed, Jane
- Smythe, John
- Devriendt, Koen
- Bhattacharya, Shoumo
- Watkins, Hugh
- Bentham, Jamie
- Bowdin, Sarah
- Hurles, Matthew E
- Mital, Seema
Producer: 20161020
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 18
Availability: No items available.
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10.
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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. [electronic resource] by
- Li, Alexander H
- Hanchard, Neil A
- Furthner, Dieter
- Fernbach, Susan
- Azamian, Mahshid
- Nicosia, Annarita
- Rosenfeld, Jill
- Muzny, Donna
- D'Alessandro, Lisa C A
- Morris, Shaine
- Jhangiani, Shalini
- Parekh, Dhaval R
- Franklin, Wayne J
- Lewin, Mark
- Towbin, Jeffrey A
- Penny, Daniel J
- Fraser, Charles D
- Martin, James F
- Eng, Christine
- Lupski, James R
- Gibbs, Richard A
- Boerwinkle, Eric
- Belmont, John W
Producer: 20180713
In:
Genome medicine vol. 9
Availability: No items available.
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11.
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. [electronic resource] by
- Vetrini, Francesco
- D'Alessandro, Lisa C A
- Akdemir, Zeynep C
- Braxton, Alicia
- Azamian, Mahshid S
- Eldomery, Mohammad K
- Miller, Kathryn
- Kois, Chelsea
- Sack, Virginia
- Shur, Natasha
- Rijhsinghani, Asha
- Chandarana, Jignesh
- Ding, Yan
- Holtzman, Judy
- Jhangiani, Shalini N
- Muzny, Donna M
- Gibbs, Richard A
- Eng, Christine M
- Hanchard, Neil A
- Harel, Tamar
- Rosenfeld, Jill A
- Belmont, John W
- Lupski, James R
- Yang, Yaping
Producer: 20170524
In:
American journal of human genetics vol. 99
Availability: No items available.
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12.
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Genetic architecture of laterality defects revealed by whole exome sequencing. [electronic resource] by
- Li, Alexander H
- Hanchard, Neil A
- Azamian, Mahshid
- D'Alessandro, Lisa C A
- Coban-Akdemir, Zeynep
- Lopez, Keila N
- Hall, Nancy J
- Dickerson, Heather
- Nicosia, Annarita
- Fernbach, Susan
- Boone, Philip M
- Gambin, Tomaz
- Karaca, Ender
- Gu, Shen
- Yuan, Bo
- Jhangiani, Shalini N
- Doddapaneni, HarshaVardhan
- Hu, Jianhong
- Dinh, Huyen
- Jayaseelan, Joy
- Muzny, Donna
- Lalani, Seema
- Towbin, Jeffrey
- Penny, Daniel
- Fraser, Charles
- Martin, James
- Lupski, James R
- Gibbs, Richard A
- Boerwinkle, Eric
- Ware, Stephanie M
- Belmont, John W
Producer: 20200615
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
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13.
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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. [electronic resource] by
- Al Turki, Saeed
- Manickaraj, Ashok K
- Mercer, Catherine L
- Gerety, Sebastian S
- Hitz, Marc-Phillip
- Lindsay, Sarah
- D'Alessandro, Lisa C A
- Swaminathan, G Jawahar
- Bentham, Jamie
- Arndt, Anne-Karin
- Louw, Jacoba
- Breckpot, Jeroen
- Gewillig, Marc
- Thienpont, Bernard
- Abdul-Khaliq, Hashim
- Harnack, Christine
- Hoff, Kirstin
- Kramer, Hans-Heiner
- Schubert, Stephan
- Siebert, Reiner
- Toka, Okan
- Cosgrove, Catherine
- Watkins, Hugh
- Lucassen, Anneke M
- O'Kelly, Ita M
- Salmon, Anthony P
- Bu'Lock, Frances A
- Granados-Riveron, Javier
- Setchfield, Kerry
- Thornborough, Chris
- Brook, J David
- Mulder, Barbara
- Klaassen, Sabine
- Bhattacharya, Shoumo
- Devriendt, Koen
- FitzPatrick, David R
- Wilson, David I
- Mital, Seema
- Hurles, Matthew E
Publication details: American journal of human genetics Mar 2016
In:
American journal of human genetics vol. 98
Availability: No items available.
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14.
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Rare variants in NR2F2 cause congenital heart defects in humans. [electronic resource] by
- Al Turki, Saeed
- Manickaraj, Ashok K
- Mercer, Catherine L
- Gerety, Sebastian S
- Hitz, Marc-Phillip
- Lindsay, Sarah
- D'Alessandro, Lisa C A
- Swaminathan, G Jawahar
- Bentham, Jamie
- Arndt, Anne-Karin
- Louw, Jacoba
- Low, Jacoba
- Breckpot, Jeroen
- Gewillig, Marc
- Thienpont, Bernard
- Abdul-Khaliq, Hashim
- Harnack, Christine
- Hoff, Kirstin
- Kramer, Hans-Heiner
- Schubert, Stephan
- Siebert, Reiner
- Toka, Okan
- Cosgrove, Catherine
- Watkins, Hugh
- Lucassen, Anneke M
- O'Kelly, Ita M
- Salmon, Anthony P
- Bu'lock, Frances A
- Granados-Riveron, Javier
- Setchfield, Kerry
- Thornborough, Chris
- Brook, J David
- Mulder, Barbara
- Klaassen, Sabine
- Bhattacharya, Shoumo
- Devriendt, Koen
- Fitzpatrick, David F
- Wilson, David I
- Mital, Seema
- Hurles, Matthew E
Producer: 20140530
In:
American journal of human genetics vol. 94
Availability: No items available.
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15.
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Recommendations for the integration of genomics into clinical practice. [electronic resource] by
- Bowdin, Sarah
- Gilbert, Adel
- Bedoukian, Emma
- Carew, Christopher
- Adam, Margaret P
- Belmont, John
- Bernhardt, Barbara
- Biesecker, Leslie
- Bjornsson, Hans T
- Blitzer, Miriam
- D'Alessandro, Lisa C A
- Deardorff, Matthew A
- Demmer, Laurie
- Elliott, Alison
- Feldman, Gerald L
- Glass, Ian A
- Herman, Gail
- Hindorff, Lucia
- Hisama, Fuki
- Hudgins, Louanne
- Innes, A Micheil
- Jackson, Laird
- Jarvik, Gail
- Kim, Raymond
- Korf, Bruce
- Ledbetter, David H
- Li, Mindy
- Liston, Eriskay
- Marshall, Christian
- Medne, Livija
- Meyn, M Stephen
- Monfared, Nasim
- Morton, Cynthia
- Mulvihill, John J
- Plon, Sharon E
- Rehm, Heidi
- Roberts, Amy
- Shuman, Cheryl
- Spinner, Nancy B
- Stavropoulos, D James
- Valverde, Kathleen
- Waggoner, Darrel J
- Wilkens, Alisha
- Cohn, Ronald D
- Krantz, Ian D
Producer: 20170915
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 18
Availability: No items available.
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16.
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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. [electronic resource] by
- Hanchard, Neil A
- Swaminathan, Shanker
- Bucasas, Kristine
- Furthner, Dieter
- Fernbach, Susan
- Azamian, Mahshid S
- Wang, Xueqing
- Lewin, Mark
- Towbin, Jeffrey A
- D'Alessandro, Lisa C A
- Morris, Shaine A
- Dreyer, William
- Denfield, Susan
- Ayres, Nancy A
- Franklin, Wayne J
- Justino, Henri
- Lantin-Hermoso, M Regina
- Ocampo, Elena C
- Santos, Alexia B
- Parekh, Dhaval
- Moodie, Douglas
- Jeewa, Aamir
- Lawrence, Emily
- Allen, Hugh D
- Penny, Daniel J
- Fraser, Charles D
- Lupski, James R
- Popoola, Mojisola
- Wadhwa, Lalita
- Brook, J David
- Bu'Lock, Frances A
- Bhattacharya, Shoumo
- Lalani, Seema R
- Zender, Gloria A
- Fitzgerald-Butt, Sara M
- Bowman, Jessica
- Corsmeier, Don
- White, Peter
- Lecerf, Kelsey
- Zapata, Gladys
- Hernandez, Patricia
- Goodship, Judith A
- Garg, Vidu
- Keavney, Bernard D
- Leal, Suzanne M
- Cordell, Heather J
- Belmont, John W
- McBride, Kim L
Producer: 20170925
In:
Human molecular genetics vol. 25
Availability: No items available.
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