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201.
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Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. [electronic resource] by
- Tarpey, Patrick S
- Stevens, Claire
- Teague, Jon
- Edkins, Sarah
- O'Meara, Sarah
- Avis, Tim
- Barthorpe, Syd
- Buck, Gemma
- Butler, Adam
- Cole, Jennifer
- Dicks, Ed
- Gray, Kristian
- Halliday, Kelly
- Harrison, Rachel
- Hills, Katy
- Hinton, Jonathon
- Jones, David
- Menzies, Andrew
- Mironenko, Tatiana
- Perry, Janet
- Raine, Keiran
- Richardson, David
- Shepherd, Rebecca
- Small, Alexandra
- Tofts, Calli
- Varian, Jennifer
- West, Sofie
- Widaa, Sara
- Yates, Andy
- Catford, Rachael
- Butler, Julia
- Mallya, Uma
- Moon, Jenny
- Luo, Ying
- Dorkins, Huw
- Thompson, Deborah
- Easton, Douglas F
- Wooster, Richard
- Bobrow, Martin
- Carpenter, Nancy
- Simensen, Richard J
- Schwartz, Charles E
- Stevenson, Roger E
- Turner, Gillian
- Partington, Michael
- Gecz, Jozef
- Stratton, Michael R
- Futreal, P Andrew
- Raymond, F Lucy
Producer: 20070206
In:
American journal of human genetics vol. 79
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202.
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A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. [electronic resource] by
- Jansen, Sandra
- Hoischen, Alexander
- Coe, Bradley P
- Carvill, Gemma L
- Van Esch, Hilde
- Bosch, Daniëlle G M
- Andersen, Ulla A
- Baker, Carl
- Bauters, Marijke
- Bernier, Raphael A
- van Bon, Bregje W
- Claahsen-van der Grinten, Hedi L
- Gecz, Jozef
- Gilissen, Christian
- Grillo, Lucia
- Hackett, Anna
- Kleefstra, Tjitske
- Koolen, David
- Kvarnung, Malin
- Larsen, Martin J
- Marcelis, Carlo
- McKenzie, Fiona
- Monin, Marie-Lorraine
- Nava, Caroline
- Schuurs-Hoeijmakers, Janneke H
- Pfundt, Rolph
- Steehouwer, Marloes
- Stevens, Servi J C
- Stumpel, Connie T
- Vansenne, Fleur
- Vinci, Mirella
- van de Vorst, Maartje
- Vries, Petra de
- Witherspoon, Kali
- Veltman, Joris A
- Brunner, Han G
- Mefford, Heather C
- Romano, Corrado
- Vissers, Lisenka E L M
- Eichler, Evan E
- de Vries, Bert B A
Producer: 20181211
In:
European journal of human genetics : EJHG vol. 26
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203.
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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. [electronic resource] by
- Tarpey, Patrick S
- Raymond, F Lucy
- O'Meara, Sarah
- Edkins, Sarah
- Teague, Jon
- Butler, Adam
- Dicks, Ed
- Stevens, Claire
- Tofts, Calli
- Avis, Tim
- Barthorpe, Syd
- Buck, Gemma
- Cole, Jennifer
- Gray, Kristian
- Halliday, Kelly
- Harrison, Rachel
- Hills, Katy
- Jenkinson, Andrew
- Jones, David
- Menzies, Andrew
- Mironenko, Tatiana
- Perry, Janet
- Raine, Keiran
- Richardson, David
- Shepherd, Rebecca
- Small, Alexandra
- Varian, Jennifer
- West, Sofie
- Widaa, Sara
- Mallya, Uma
- Moon, Jenny
- Luo, Ying
- Holder, Susan
- Smithson, Sarah F
- Hurst, Jane A
- Clayton-Smith, Jill
- Kerr, Bronwyn
- Boyle, Jackie
- Shaw, Marie
- Vandeleur, Lucianne
- Rodriguez, Jayson
- Slaugh, Rachel
- Easton, Douglas F
- Wooster, Richard
- Bobrow, Martin
- Srivastava, Anand K
- Stevenson, Roger E
- Schwartz, Charles E
- Turner, Gillian
- Gecz, Jozef
- Futreal, P Andrew
- Stratton, Michael R
- Partington, Michael
Producer: 20070313
In:
American journal of human genetics vol. 80
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204.
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. [electronic resource] by
- Stessman, Holly A F
- Xiong, Bo
- Coe, Bradley P
- Wang, Tianyun
- Hoekzema, Kendra
- Fenckova, Michaela
- Kvarnung, Malin
- Gerdts, Jennifer
- Trinh, Sandy
- Cosemans, Nele
- Vives, Laura
- Lin, Janice
- Turner, Tychele N
- Santen, Gijs
- Ruivenkamp, Claudia
- Kriek, Marjolein
- van Haeringen, Arie
- Aten, Emmelien
- Friend, Kathryn
- Liebelt, Jan
- Barnett, Christopher
- Haan, Eric
- Shaw, Marie
- Gecz, Jozef
- Anderlid, Britt-Marie
- Nordgren, Ann
- Lindstrand, Anna
- Schwartz, Charles
- Kooy, R Frank
- Vandeweyer, Geert
- Helsmoortel, Celine
- Romano, Corrado
- Alberti, Antonino
- Vinci, Mirella
- Avola, Emanuela
- Giusto, Stefania
- Courchesne, Eric
- Pramparo, Tiziano
- Pierce, Karen
- Nalabolu, Srinivasa
- Amaral, David G
- Scheffer, Ingrid E
- Delatycki, Martin B
- Lockhart, Paul J
- Hormozdiari, Fereydoun
- Harich, Benjamin
- Castells-Nobau, Anna
- Xia, Kun
- Peeters, Hilde
- Nordenskjöld, Magnus
- Schenck, Annette
- Bernier, Raphael A
- Eichler, Evan E
Producer: 20170905
In:
Nature genetics vol. 49
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205.
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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. [electronic resource] by
- Tarpey, Patrick S
- Raymond, F Lucy
- Nguyen, Lam S
- Rodriguez, Jayson
- Hackett, Anna
- Vandeleur, Lucianne
- Smith, Raffaella
- Shoubridge, Cheryl
- Edkins, Sarah
- Stevens, Claire
- O'Meara, Sarah
- Tofts, Calli
- Barthorpe, Syd
- Buck, Gemma
- Cole, Jennifer
- Halliday, Kelly
- Hills, Katy
- Jones, David
- Mironenko, Tatiana
- Perry, Janet
- Varian, Jennifer
- West, Sofie
- Widaa, Sara
- Teague, John
- Dicks, Ed
- Butler, Adam
- Menzies, Andrew
- Richardson, David
- Jenkinson, Andrew
- Shepherd, Rebecca
- Raine, Keiran
- Moon, Jenny
- Luo, Yin
- Parnau, Josep
- Bhat, Shambhu S
- Gardner, Alison
- Corbett, Mark
- Brooks, Doug
- Thomas, Paul
- Parkinson-Lawrence, Emma
- Porteous, Mary E
- Warner, John P
- Sanderson, Tracy
- Pearson, Pauline
- Simensen, Richard J
- Skinner, Cindy
- Hoganson, George
- Superneau, Duane
- Wooster, Richard
- Bobrow, Martin
- Turner, Gillian
- Stevenson, Roger E
- Schwartz, Charles E
- Futreal, P Andrew
- Srivastava, Anand K
- Stratton, Michael R
- Gécz, Jozef
Producer: 20071127
In:
Nature genetics vol. 39
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206.
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. [electronic resource] by
- Stessman, Holly A F
- Willemsen, Marjolein H
- Fenckova, Michaela
- Penn, Osnat
- Hoischen, Alexander
- Xiong, Bo
- Wang, Tianyun
- Hoekzema, Kendra
- Vives, Laura
- Vogel, Ida
- Brunner, Han G
- van der Burgt, Ineke
- Ockeloen, Charlotte W
- Schuurs-Hoeijmakers, Janneke H
- Klein Wassink-Ruiter, Jolien S
- Stumpel, Connie
- Stevens, Servi J C
- Vles, Hans S
- Marcelis, Carlo M
- van Bokhoven, Hans
- Cantagrel, Vincent
- Colleaux, Laurence
- Nicouleau, Michael
- Lyonnet, Stanislas
- Bernier, Raphael A
- Gerdts, Jennifer
- Coe, Bradley P
- Romano, Corrado
- Alberti, Antonino
- Grillo, Lucia
- Scuderi, Carmela
- Nordenskjöld, Magnus
- Kvarnung, Malin
- Guo, Hui
- Xia, Kun
- Piton, Amélie
- Gerard, Bénédicte
- Genevieve, David
- Delobel, Bruno
- Lehalle, Daphne
- Perrin, Laurence
- Prieur, Fabienne
- Thevenon, Julien
- Gecz, Jozef
- Shaw, Marie
- Pfundt, Rolph
- Keren, Boris
- Jacquette, Aurelia
- Schenck, Annette
- Eichler, Evan E
- Kleefstra, Tjitske
Producer: 20160725
In:
American journal of human genetics vol. 98
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207.
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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. [electronic resource] by
- Dibbens, Leanne M
- Tarpey, Patrick S
- Hynes, Kim
- Bayly, Marta A
- Scheffer, Ingrid E
- Smith, Raffaella
- Bomar, Jamee
- Sutton, Edwina
- Vandeleur, Lucianne
- Shoubridge, Cheryl
- Edkins, Sarah
- Turner, Samantha J
- Stevens, Claire
- O'Meara, Sarah
- Tofts, Calli
- Barthorpe, Syd
- Buck, Gemma
- Cole, Jennifer
- Halliday, Kelly
- Jones, David
- Lee, Rebecca
- Madison, Mark
- Mironenko, Tatiana
- Varian, Jennifer
- West, Sofie
- Widaa, Sara
- Wray, Paul
- Teague, John
- Dicks, Ed
- Butler, Adam
- Menzies, Andrew
- Jenkinson, Andrew
- Shepherd, Rebecca
- Gusella, James F
- Afawi, Zaid
- Mazarib, Aziz
- Neufeld, Miriam Y
- Kivity, Sara
- Lev, Dorit
- Lerman-Sagie, Tally
- Korczyn, Amos D
- Derry, Christopher P
- Sutherland, Grant R
- Friend, Kathryn
- Shaw, Marie
- Corbett, Mark
- Kim, Hyung-Goo
- Geschwind, Daniel H
- Thomas, Paul
- Haan, Eric
- Ryan, Stephen
- McKee, Shane
- Berkovic, Samuel F
- Futreal, P Andrew
- Stratton, Michael R
- Mulley, John C
- Gécz, Jozef
Producer: 20080619
In:
Nature genetics vol. 40
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208.
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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. [electronic resource] by
- Koolen, David A
- Pfundt, Rolph
- Linda, Katrin
- Beunders, Gea
- Veenstra-Knol, Hermine E
- Conta, Jessie H
- Fortuna, Ana Maria
- Gillessen-Kaesbach, Gabriele
- Dugan, Sarah
- Halbach, Sara
- Abdul-Rahman, Omar A
- Winesett, Heather M
- Chung, Wendy K
- Dalton, Marguerite
- Dimova, Petia S
- Mattina, Teresa
- Prescott, Katrina
- Zhang, Hui Z
- Saal, Howard M
- Hehir-Kwa, Jayne Y
- Willemsen, Marjolein H
- Ockeloen, Charlotte W
- Jongmans, Marjolijn C
- Van der Aa, Nathalie
- Failla, Pinella
- Barone, Concetta
- Avola, Emanuela
- Brooks, Alice S
- Kant, Sarina G
- Gerkes, Erica H
- Firth, Helen V
- Õunap, Katrin
- Bird, Lynne M
- Masser-Frye, Diane
- Friedman, Jennifer R
- Sokunbi, Modupe A
- Dixit, Abhijit
- Splitt, Miranda
- Kukolich, Mary K
- McGaughran, Julie
- Coe, Bradley P
- Flórez, Jesús
- Nadif Kasri, Nael
- Brunner, Han G
- Thompson, Elizabeth M
- Gecz, Jozef
- Romano, Corrado
- Eichler, Evan E
- de Vries, Bert B A
Producer: 20161226
In:
European journal of human genetics : EJHG vol. 24
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209.
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. [electronic resource] by
- Gabriele, Michele
- Vulto-van Silfhout, Anneke T
- Germain, Pierre-Luc
- Vitriolo, Alessandro
- Kumar, Raman
- Douglas, Evelyn
- Haan, Eric
- Kosaki, Kenjiro
- Takenouchi, Toshiki
- Rauch, Anita
- Steindl, Katharina
- Frengen, Eirik
- Misceo, Doriana
- Pedurupillay, Christeen Ramane J
- Stromme, Petter
- Rosenfeld, Jill A
- Shao, Yunru
- Craigen, William J
- Schaaf, Christian P
- Rodriguez-Buritica, David
- Farach, Laura
- Friedman, Jennifer
- Thulin, Perla
- McLean, Scott D
- Nugent, Kimberly M
- Morton, Jenny
- Nicholl, Jillian
- Andrieux, Joris
- Stray-Pedersen, Asbjørg
- Chambon, Pascal
- Patrier, Sophie
- Lynch, Sally A
- Kjaergaard, Susanne
- Tørring, Pernille M
- Brasch-Andersen, Charlotte
- Ronan, Anne
- van Haeringen, Arie
- Anderson, Peter J
- Powis, Zöe
- Brunner, Han G
- Pfundt, Rolph
- Schuurs-Hoeijmakers, Janneke H M
- van Bon, Bregje W M
- Lelieveld, Stefan
- Gilissen, Christian
- Nillesen, Willy M
- Vissers, Lisenka E L M
- Gecz, Jozef
- Koolen, David A
- Testa, Giuseppe
- de Vries, Bert B A
Producer: 20170731
In:
American journal of human genetics vol. 100
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210.
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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. [electronic resource] by
- Noor, Abdul
- Whibley, Annabel
- Marshall, Christian R
- Gianakopoulos, Peter J
- Piton, Amelie
- Carson, Andrew R
- Orlic-Milacic, Marija
- Lionel, Anath C
- Sato, Daisuke
- Pinto, Dalila
- Drmic, Irene
- Noakes, Carolyn
- Senman, Lili
- Zhang, Xiaoyun
- Mo, Rong
- Gauthier, Julie
- Crosbie, Jennifer
- Pagnamenta, Alistair T
- Munson, Jeffrey
- Estes, Annette M
- Fiebig, Andreas
- Franke, Andre
- Schreiber, Stefan
- Stewart, Alexandre F R
- Roberts, Robert
- McPherson, Ruth
- Guter, Stephen J
- Cook, Edwin H
- Dawson, Geraldine
- Schellenberg, Gerard D
- Battaglia, Agatino
- Maestrini, Elena
- Jeng, Linda
- Hutchison, Terry
- Rajcan-Separovic, Evica
- Chudley, Albert E
- Lewis, Suzanne M E
- Liu, Xudong
- Holden, Jeanette J
- Fernandez, Bridget
- Zwaigenbaum, Lonnie
- Bryson, Susan E
- Roberts, Wendy
- Szatmari, Peter
- Gallagher, Louise
- Stratton, Michael R
- Gecz, Jozef
- Brady, Angela F
- Schwartz, Charles E
- Schachar, Russell J
- Monaco, Anthony P
- Rouleau, Guy A
- Hui, Chi-Chung
- Lucy Raymond, F
- Scherer, Stephen W
- Vincent, John B
Producer: 20101229
In:
Science translational medicine vol. 2
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211.
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TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. [electronic resource] by
- Balestrini, Simona
- Milh, Mathieu
- Castiglioni, Claudia
- Lüthy, Kevin
- Finelli, Mattea J
- Verstreken, Patrik
- Cardon, Aaron
- Stražišar, Barbara Gnidovec
- Holder, J Lloyd
- Lesca, Gaetan
- Mancardi, Maria M
- Poulat, Anne L
- Repetto, Gabriela M
- Banka, Siddharth
- Bilo, Leonilda
- Birkeland, Laura E
- Bosch, Friedrich
- Brockmann, Knut
- Cross, J Helen
- Doummar, Diane
- Félix, Temis M
- Giuliano, Fabienne
- Hori, Mutsuki
- Hüning, Irina
- Kayserili, Hulia
- Kini, Usha
- Lees, Melissa M
- Meenakshi, Girish
- Mewasingh, Leena
- Pagnamenta, Alistair T
- Peluso, Silvio
- Mey, Antje
- Rice, Gregory M
- Rosenfeld, Jill A
- Taylor, Jenny C
- Troester, Matthew M
- Stanley, Christine M
- Ville, Dorothee
- Walkiewicz, Magdalena
- Falace, Antonio
- Fassio, Anna
- Lemke, Johannes R
- Biskup, Saskia
- Tardif, Jessica
- Ajeawung, Norbert F
- Tolun, Aslihan
- Corbett, Mark
- Gecz, Jozef
- Afawi, Zaid
- Howell, Katherine B
- Oliver, Karen L
- Berkovic, Samuel F
- Scheffer, Ingrid E
- de Falco, Fabrizio A
- Oliver, Peter L
- Striano, Pasquale
- Zara, Federico
- Campeau, Phillipe M
- Sisodiya, S M
Producer: 20170505
In:
Neurology vol. 87
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212.
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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. [electronic resource] by
- Girirajan, Santhosh
- Rosenfeld, Jill A
- Cooper, Gregory M
- Antonacci, Francesca
- Siswara, Priscillia
- Itsara, Andy
- Vives, Laura
- Walsh, Tom
- McCarthy, Shane E
- Baker, Carl
- Mefford, Heather C
- Kidd, Jeffrey M
- Browning, Sharon R
- Browning, Brian L
- Dickel, Diane E
- Levy, Deborah L
- Ballif, Blake C
- Platky, Kathryn
- Farber, Darren M
- Gowans, Gordon C
- Wetherbee, Jessica J
- Asamoah, Alexander
- Weaver, David D
- Mark, Paul R
- Dickerson, Jennifer
- Garg, Bhuwan P
- Ellingwood, Sara A
- Smith, Rosemarie
- Banks, Valerie C
- Smith, Wendy
- McDonald, Marie T
- Hoo, Joe J
- French, Beatrice N
- Hudson, Cindy
- Johnson, John P
- Ozmore, Jillian R
- Moeschler, John B
- Surti, Urvashi
- Escobar, Luis F
- El-Khechen, Dima
- Gorski, Jerome L
- Kussmann, Jennifer
- Salbert, Bonnie
- Lacassie, Yves
- Biser, Alisha
- McDonald-McGinn, Donna M
- Zackai, Elaine H
- Deardorff, Matthew A
- Shaikh, Tamim H
- Haan, Eric
- Friend, Kathryn L
- Fichera, Marco
- Romano, Corrado
- Gécz, Jozef
- DeLisi, Lynn E
- Sebat, Jonathan
- King, Mary-Claire
- Shaffer, Lisa G
- Eichler, Evan E
Producer: 20100415
In:
Nature genetics vol. 42
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213.
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. [electronic resource] by
- Aref-Eshghi, Erfan
- Kerkhof, Jennifer
- Pedro, Victor P
- Barat-Houari, Mouna
- Ruiz-Pallares, Nathalie
- Andrau, Jean-Christophe
- Lacombe, Didier
- Van-Gils, Julien
- Fergelot, Patricia
- Dubourg, Christèle
- Cormier-Daire, Valerie
- Rondeau, Sophie
- Lecoquierre, François
- Saugier-Veber, Pascale
- Nicolas, Gaël
- Lesca, Gaetan
- Chatron, Nicolas
- Sanlaville, Damien
- Vitobello, Antonio
- Faivre, Laurence
- Thauvin-Robinet, Christel
- Laumonnier, Frederic
- Raynaud, Martine
- Alders, Mariëlle
- Mannens, Marcel
- Henneman, Peter
- Hennekam, Raoul C
- Velasco, Guillaume
- Francastel, Claire
- Ulveling, Damien
- Ciolfi, Andrea
- Pizzi, Simone
- Tartaglia, Marco
- Heide, Solveig
- Héron, Delphine
- Mignot, Cyril
- Keren, Boris
- Whalen, Sandra
- Afenjar, Alexandra
- Bienvenu, Thierry
- Campeau, Philippe M
- Rousseau, Justine
- Levy, Michael A
- Brick, Lauren
- Kozenko, Mariya
- Balci, Tugce B
- Siu, Victoria Mok
- Stuart, Alan
- Kadour, Mike
- Masters, Jennifer
- Takano, Kyoko
- Kleefstra, Tjitske
- de Leeuw, Nicole
- Field, Michael
- Shaw, Marie
- Gecz, Jozef
- Ainsworth, Peter J
- Lin, Hanxin
- Rodenhiser, David I
- Friez, Michael J
- Tedder, Matt
- Lee, Jennifer A
- DuPont, Barbara R
- Stevenson, Roger E
- Skinner, Steven A
- Schwartz, Charles E
- Genevieve, David
- Sadikovic, Bekim
Producer: 20200505
In:
American journal of human genetics vol. 106
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214.
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. [electronic resource] by
- Guo, Hui
- Bettella, Elisa
- Marcogliese, Paul C
- Zhao, Rongjuan
- Andrews, Jonathan C
- Nowakowski, Tomasz J
- Gillentine, Madelyn A
- Hoekzema, Kendra
- Wang, Tianyun
- Wu, Huidan
- Jangam, Sharayu
- Liu, Cenying
- Ni, Hailun
- Willemsen, Marjolein H
- van Bon, Bregje W
- Rinne, Tuula
- Stevens, Servi J C
- Kleefstra, Tjitske
- Brunner, Han G
- Yntema, Helger G
- Long, Min
- Zhao, Wenjing
- Hu, Zhengmao
- Colson, Cindy
- Richard, Nicolas
- Schwartz, Charles E
- Romano, Corrado
- Castiglia, Lucia
- Bottitta, Maria
- Dhar, Shweta U
- Erwin, Deanna J
- Emrick, Lisa
- Keren, Boris
- Afenjar, Alexandra
- Zhu, Baosheng
- Bai, Bing
- Stankiewicz, Pawel
- Herman, Kristin
- Mercimek-Andrews, Saadet
- Juusola, Jane
- Wilfert, Amy B
- Abou Jamra, Rami
- Büttner, Benjamin
- Mefford, Heather C
- Muir, Alison M
- Scheffer, Ingrid E
- Regan, Brigid M
- Malone, Stephen
- Gecz, Jozef
- Cobben, Jan
- Weiss, Marjan M
- Waisfisz, Quinten
- Bijlsma, Emilia K
- Hoffer, Mariëtte J V
- Ruivenkamp, Claudia A L
- Sartori, Stefano
- Xia, Fan
- Rosenfeld, Jill A
- Bernier, Raphael A
- Wangler, Michael F
- Yamamoto, Shinya
- Xia, Kun
- Stegmann, Alexander P A
- Bellen, Hugo J
- Murgia, Alessandra
- Eichler, Evan E
Producer: 20200114
In:
Nature communications vol. 10
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215.
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. [electronic resource] by
- Tarpey, Patrick S
- Smith, Raffaella
- Pleasance, Erin
- Whibley, Annabel
- Edkins, Sarah
- Hardy, Claire
- O'Meara, Sarah
- Latimer, Calli
- Dicks, Ed
- Menzies, Andrew
- Stephens, Phil
- Blow, Matt
- Greenman, Chris
- Xue, Yali
- Tyler-Smith, Chris
- Thompson, Deborah
- Gray, Kristian
- Andrews, Jenny
- Barthorpe, Syd
- Buck, Gemma
- Cole, Jennifer
- Dunmore, Rebecca
- Jones, David
- Maddison, Mark
- Mironenko, Tatiana
- Turner, Rachel
- Turrell, Kelly
- Varian, Jennifer
- West, Sofie
- Widaa, Sara
- Wray, Paul
- Teague, Jon
- Butler, Adam
- Jenkinson, Andrew
- Jia, Mingming
- Richardson, David
- Shepherd, Rebecca
- Wooster, Richard
- Tejada, M Isabel
- Martinez, Francisco
- Carvill, Gemma
- Goliath, Rene
- de Brouwer, Arjan P M
- van Bokhoven, Hans
- Van Esch, Hilde
- Chelly, Jamel
- Raynaud, Martine
- Ropers, Hans-Hilger
- Abidi, Fatima E
- Srivastava, Anand K
- Cox, James
- Luo, Ying
- Mallya, Uma
- Moon, Jenny
- Parnau, Josef
- Mohammed, Shehla
- Tolmie, John L
- Shoubridge, Cheryl
- Corbett, Mark
- Gardner, Alison
- Haan, Eric
- Rujirabanjerd, Sinitdhorn
- Shaw, Marie
- Vandeleur, Lucianne
- Fullston, Tod
- Easton, Douglas F
- Boyle, Jackie
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- Gecz, Jozef
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- Zhang, Yu
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- Shieh, Joseph T
- McWalter, Kirsty
- Monaghan, Kristin G
- van Hasselt, Peter M
- van Gassen, Koen
- Bai, Ting
- Long, Min
- Han, Lin
- Quan, Yingting
- Chen, Meilin
- Zhang, Yaowen
- Li, Kuokuo
- Zhang, Qiumeng
- Tan, Jieqiong
- Zhu, Tengfei
- Liu, Yaning
- Pang, Nan
- Peng, Jing
- Scott, Daryl A
- Lalani, Seema R
- Azamian, Mahshid
- Mancini, Grazia M S
- Adams, Darius J
- Kvarnung, Malin
- Lindstrand, Anna
- Nordgren, Ann
- Pevsner, Jonathan
- Osei-Owusu, Ikeoluwa A
- Romano, Corrado
- Calabrese, Giuseppe
- Galesi, Ornella
- Gecz, Jozef
- Haan, Eric
- Ranells, Judith
- Racobaldo, Melissa
- Nordenskjold, Magnus
- Madan-Khetarpal, Suneeta
- Sebastian, Jessica
- Ball, Susie
- Zou, Xiaobing
- Zhao, Jingping
- Hu, Zhengmao
- Xia, Fan
- Liu, Pengfei
- Rosenfeld, Jill A
- de Vries, Bert B A
- Bernier, Raphael A
- Xu, Zhi-Qing David
- Li, Honghui
- Xie, Wei
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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. [electronic resource] by
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- Tan, Tiong Yang
- Cameron, Fergus
- Werther, George
- Hutson, John
- O'Connell, Michele
- Grover, Sonia R
- Heloury, Yves
- Zacharin, Margaret
- Bergman, Philip
- Kimber, Chris
- Brown, Justin
- Webb, Nathalie
- Hunter, Matthew F
- Srinivasan, Shubha
- Titmuss, Angela
- Verge, Charles F
- Mowat, David
- Smith, Grahame
- Smith, Janine
- Ewans, Lisa
- Shalhoub, Carolyn
- Crock, Patricia
- Cowell, Chris
- Leong, Gary M
- Ono, Makato
- Lafferty, Antony R
- Huynh, Tony
- Visser, Uma
- Choong, Catherine S
- McKenzie, Fiona
- Pachter, Nicholas
- Thompson, Elizabeth M
- Couper, Jennifer
- Baxendale, Anne
- Gecz, Jozef
- Wheeler, Benjamin J
- Jefferies, Craig
- MacKenzie, Karen
- Hofman, Paul
- Carter, Philippa
- King, Richard I
- Krausz, Csilla
- van Ravenswaaij-Arts, Conny M A
- Looijenga, Leendert
- Drop, Sten
- Riedl, Stefan
- Cools, Martine
- Dawson, Angelika
- Juniarto, Achmad Zulfa
- Khadilkar, Vaman
- Khadilkar, Anuradha
- Bhatia, Vijayalakshmi
- Dũng, Vũ Chí
- Atta, Irum
- Raza, Jamal
- Thi Diem Chi, Nguyen
- Hao, Tran Kiem
- Harley, Vincent
- Koopman, Peter
- Warne, Garry
- Faradz, Sultana
- Oshlack, Alicia
- Ayers, Katie L
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Producer: 20170621
In:
Genome biology vol. 17
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. [electronic resource] by
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- Dharmadhikari, Avinash V
- Varland, Sylvia
- Ma, Ning
- Domingo, Deepti
- Kleyner, Robert
- Rope, Alan F
- Yoon, Margaret
- Stray-Pedersen, Asbjørg
- Posey, Jennifer E
- Crews, Sarah R
- Eldomery, Mohammad K
- Akdemir, Zeynep Coban
- Lewis, Andrea M
- Sutton, Vernon R
- Rosenfeld, Jill A
- Conboy, Erin
- Agre, Katherine
- Xia, Fan
- Walkiewicz, Magdalena
- Longoni, Mauro
- High, Frances A
- van Slegtenhorst, Marjon A
- Mancini, Grazia M S
- Finnila, Candice R
- van Haeringen, Arie
- den Hollander, Nicolette
- Ruivenkamp, Claudia
- Naidu, Sakkubai
- Mahida, Sonal
- Palmer, Elizabeth E
- Murray, Lucinda
- Lim, Derek
- Jayakar, Parul
- Parker, Michael J
- Giusto, Stefania
- Stracuzzi, Emanuela
- Romano, Corrado
- Beighley, Jennifer S
- Bernier, Raphael A
- Küry, Sébastien
- Nizon, Mathilde
- Corbett, Mark A
- Shaw, Marie
- Gardner, Alison
- Barnett, Christopher
- Armstrong, Ruth
- Kassahn, Karin S
- Van Dijck, Anke
- Vandeweyer, Geert
- Kleefstra, Tjitske
- Schieving, Jolanda
- Jongmans, Marjolijn J
- de Vries, Bert B A
- Pfundt, Rolph
- Kerr, Bronwyn
- Rojas, Samantha K
- Boycott, Kym M
- Person, Richard
- Willaert, Rebecca
- Eichler, Evan E
- Kooy, R Frank
- Yang, Yaping
- Wu, Joseph C
- Lupski, James R
- Arnesen, Thomas
- Cooper, Gregory M
- Chung, Wendy K
- Gecz, Jozef
- Stessman, Holly A F
- Meng, Linyan
- Lyon, Gholson J
Producer: 20181211
In:
American journal of human genetics vol. 102
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- Madsen, Erik
- Juusola, Jane
- Gilissen, Christian
- Baralle, Diana
- Reijnders, Margot R F
- Venselaar, Hanka
- Helsmoortel, Céline
- Cho, Megan T
- Hoischen, Alexander
- Vissers, Lisenka E L M
- Koemans, Tom S
- Wissink-Lindhout, Willemijn
- Eichler, Evan E
- Romano, Corrado
- Van Esch, Hilde
- Stumpel, Connie
- Vreeburg, Maaike
- Smeets, Eric
- Oberndorff, Karin
- van Bon, Bregje W M
- Shaw, Marie
- Gecz, Jozef
- Haan, Eric
- Bienek, Melanie
- Jensen, Corinna
- Loeys, Bart L
- Van Dijck, Anke
- Innes, A Micheil
- Racher, Hilary
- Vermeer, Sascha
- Di Donato, Nataliya
- Rump, Andreas
- Tatton-Brown, Katrina
- Parker, Michael J
- Henderson, Alex
- Lynch, Sally A
- Fryer, Alan
- Ross, Alison
- Vasudevan, Pradeep
- Kini, Usha
- Newbury-Ecob, Ruth
- Chandler, Kate
- Male, Alison
- Dijkstra, Sybe
- Schieving, Jolanda
- Giltay, Jacques
- van Gassen, Koen L I
- Schuurs-Hoeijmakers, Janneke
- Tan, Perciliz L
- Pediaditakis, Igor
- Haas, Stefan A
- Retterer, Kyle
- Reed, Patrick
- Monaghan, Kristin G
- Haverfield, Eden
- Natowicz, Marvin
- Myers, Angela
- Kruer, Michael C
- Stein, Quinn
- Strauss, Kevin A
- Brigatti, Karlla W
- Keating, Katherine
- Burton, Barbara K
- Kim, Katherine H
- Charrow, Joel
- Norman, Jennifer
- Foster-Barber, Audrey
- Kline, Antonie D
- Kimball, Amy
- Zackai, Elaine
- Harr, Margaret
- Fox, Joyce
- McLaughlin, Julie
- Lindstrom, Kristin
- Haude, Katrina M
- van Roozendaal, Kees
- Brunner, Han
- Chung, Wendy K
- Kooy, R Frank
- Pfundt, Rolph
- Kalscheuer, Vera
- Mehta, Sarju G
- Katsanis, Nicholas
- Kleefstra, Tjitske
Producer: 20151029
In:
American journal of human genetics vol. 97
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. [electronic resource] by
- Helbig, Katherine L
- Lauerer, Robert J
- Bahr, Jacqueline C
- Souza, Ivana A
- Myers, Candace T
- Uysal, Betül
- Schwarz, Niklas
- Gandini, Maria A
- Huang, Sun
- Keren, Boris
- Mignot, Cyril
- Afenjar, Alexandra
- Billette de Villemeur, Thierry
- Héron, Delphine
- Nava, Caroline
- Valence, Stéphanie
- Buratti, Julien
- Fagerberg, Christina R
- Soerensen, Kristina P
- Kibaek, Maria
- Kamsteeg, Erik-Jan
- Koolen, David A
- Gunning, Boudewijn
- Schelhaas, H Jurgen
- Kruer, Michael C
- Fox, Jordana
- Bakhtiari, Somayeh
- Jarrar, Randa
- Padilla-Lopez, Sergio
- Lindstrom, Kristin
- Jin, Sheng Chih
- Zeng, Xue
- Bilguvar, Kaya
- Papavasileiou, Antigone
- Xing, Qinghe
- Zhu, Changlian
- Boysen, Katja
- Vairo, Filippo
- Lanpher, Brendan C
- Klee, Eric W
- Tillema, Jan-Mendelt
- Payne, Eric T
- Cousin, Margot A
- Kruisselbrink, Teresa M
- Wick, Myra J
- Baker, Joshua
- Haan, Eric
- Smith, Nicholas
- Sadeghpour, Azita
- Davis, Erica E
- Katsanis, Nicholas
- Corbett, Mark A
- MacLennan, Alastair H
- Gecz, Jozef
- Biskup, Saskia
- Goldmann, Eva
- Rodan, Lance H
- Kichula, Elizabeth
- Segal, Eric
- Jackson, Kelly E
- Asamoah, Alexander
- Dimmock, David
- McCarrier, Julie
- Botto, Lorenzo D
- Filloux, Francis
- Tvrdik, Tatiana
- Cascino, Gregory D
- Klingerman, Sherry
- Neumann, Catherine
- Wang, Raymond
- Jacobsen, Jessie C
- Nolan, Melinda A
- Snell, Russell G
- Lehnert, Klaus
- Sadleir, Lynette G
- Anderlid, Britt-Marie
- Kvarnung, Malin
- Guerrini, Renzo
- Friez, Michael J
- Lyons, Michael J
- Leonhard, Jennifer
- Kringlen, Gabriel
- Casas, Kari
- El Achkar, Christelle M
- Smith, Lacey A
- Rotenberg, Alexander
- Poduri, Annapurna
- Sanchis-Juan, Alba
- Carss, Keren J
- Rankin, Julia
- Zeman, Adam
- Raymond, F Lucy
- Blyth, Moira
- Kerr, Bronwyn
- Ruiz, Karla
- Urquhart, Jill
- Hughes, Imelda
- Banka, Siddharth
- Hedrich, Ulrike B S
- Scheffer, Ingrid E
- Helbig, Ingo
- Zamponi, Gerald W
- Lerche, Holger
- Mefford, Heather C
Producer: 20190514
In:
American journal of human genetics vol. 103
Availability: No items available.
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