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Search Results - Evans, Carey-Anne
Search Results - Evans, Carey-Anne
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Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant
by
Forwood, Caitlin
,
Ashton, Katie
,
Zhu, Ying
,
Zhang, Futao
,
Dias, Kerith-Rae
,
Standen, Krystle
,
Evans, Carey-Anne
,
Carey, Louise
,
Cardamone, Michael
,
Shalhoub, Carolyn
,
Katf, Hala
,
Riveros, Carlos
,
Hsieh, Tzung-Chien
,
Krawitz, Peter
,
Robinson, Peter N
,
Dudding-Byth, Tracy
,
Sadikovic, Bekim
,
Pinner, Jason
,
Buckley, Michael F
,
Roscioli, Tony
Published in
American journal of medical genetics. Part C, Seminars in medical genetics
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Fetal diagnosis of Mowat‐Wilson syndrome by whole exome sequencing
by
Evans, Carey‐Anne
,
Pinner, Jason
,
Chan, Cheng Y.
,
Bowyer, Lucy
,
Mowat, David
,
Buckley, Michael F.
,
Roscioli, Tony
Published in
American journal of medical genetics. Part A
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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
by
Ewans, Lisa J
,
Minoche, Andre E
,
Schofield, Deborah
,
Shrestha, Rupendra
,
Puttick, Clare
,
Zhu, Ying
,
Drew, Alexander
,
Gayevskiy, Velimir
,
Elakis, George
,
Walsh, Corrina
,
Adès, Lesley C
,
Colley, Alison
,
Ellaway, Carolyn
,
Evans, Carey-Anne
,
Freckmann, Mary-Louise
,
Goodwin, Linda
,
Hackett, Anna
,
Kamien, Benjamin
,
Kirk, Edwin P
,
Lipke, Michelle
,
Mowat, David
,
Palmer, Elizabeth
,
Rajagopalan, Sulekha
,
Ronan, Anne
,
Sachdev, Rani
,
Stevenson, William
,
Turner, Anne
,
Wilson, Meredith
,
Worgan, Lisa
,
Morel-Kopp, Marie-Christine
,
Field, Michael
,
Buckley, Michael F
,
Cowley, Mark J
,
Dinger, Marcel E
,
Roscioli, Tony
Published in
European journal of human genetics : EJHG
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Dominant-negative variants in CBX1 cause a neurodevelopmental disorder
by
Kuroda, Yukiko
,
Iwata-Otsubo, Aiko
,
Dias, Kerith-Rae
,
Temple, Suzanna E.L.
,
Nagao, Koji
,
De Hayr, Lachlan
,
Zhu, Ying
,
Isobe, Shin-Ya
,
Nishibuchi, Gohei
,
Fiordaliso, Sarah K.
,
Fujita, Yuki
,
Rippert, Alyssa L.
,
Baker, Samuel W.
,
Leung, Marco L.
,
Koboldt, Daniel C.
,
Harman, Adele
,
Keena, Beth A.
,
Kazama, Izumi
,
Subramanian, Gopinath Musuwadi
,
Manickam, Kandamurugu
,
Schmalz, Betsy
,
Latsko, Maeson
,
Zackai, Elaine H.
,
Edwards, Matt
,
Evans, Carey-Anne
,
Dulik, Matthew C.
,
Buckley, Michael F.
,
Yamashita, Toshihide
,
O'Brien, W. Timothy
,
Harvey, Robert J.
,
Obuse, Chikashi
,
Roscioli, Tony
,
Izumi, Kosuke
Published in
Genetics in medicine
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Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency
by
Sundercombe, Samantha Leigh
,
Berbic, Marina
,
Evans, Carey-Anne
,
Cliffe, Corrina
,
Elakis, George
,
Temple, Suzanna E L
,
Selvanathan, Arthavan
,
Ewans, Lisa
,
Quayum, Nila
,
Nixon, Cheng-Yee
,
Dias, Kerith-Rae
,
Lang, Sarah
,
Richards, Anna
,
Goh, Shuxiang
,
Wilson, Meredith
,
Mowat, David
,
Sachdev, Rani
,
Sandaradura, Sarah
,
Walsh, Maie
,
Farrar, Michelle A
,
Walsh, Rebecca
,
Fletcher, Janice
,
Kirk, Edwin P
,
Teunisse, Guus M
,
Schofield, Deborah
,
Buckley, Michael Francis
,
Zhu, Ying
,
Roscioli, Tony
Published in
The Journal of molecular diagnostics : JMD
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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
by
Dias, Kerith-Rae
,
Carlston, Colleen M.
,
Blok, Laura E.R.
,
De Hayr, Lachlan
,
Nawaz, Urwah
,
Evans, Carey-Anne
,
Bayrak-Toydemir, Pinar
,
Htun, Stephanie
,
Zhu, Ying
,
Ma, Alan
,
Lynch, Sally Ann
,
Moorwood, Catherine
,
Stals, Karen
,
Ellard, Sian
,
Bainbridge, Matthew N.
,
Friedman, Jennifer
,
Pappas, John G.
,
Rabin, Rachel
,
Nowak, Catherine B.
,
Douglas, Jessica
,
Wilson, Theodore E.
,
Guillen Sacoto, Maria J.
,
Mullegama, Sureni V.
,
Palculict, Timothy Blake
,
Kirk, Edwin P.
,
Pinner, Jason R.
,
Edwards, Matthew
,
Montanari, Francesca
,
Graziano, Claudio
,
Pippucci, Tommaso
,
Dingmann, Bri
,
Glass, Ian
,
Mefford, Heather C.
,
Shimoji, Takeyoshi
,
Suzuki, Toshimitsu
,
Yamakawa, Kazuhiro
,
Streff, Haley
,
Schaaf, Christian P.
,
Slavotinek, Anne M.
,
Voineagu, Irina
,
Carey, John C.
,
Buckley, Michael F.
,
Schenck, Annette
,
Harvey, Robert J.
,
Roscioli, Tony
Published in
Genetics in medicine
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Germline AGO2 mutations impair RNA interference and human neurological development
by
Lessel, Davor
,
Zeitler, Daniela M.
,
Reijnders, Margot R. F.
,
Kazantsev, Andriy
,
Hassani Nia, Fatemeh
,
Bartholomäus, Alexander
,
Martens, Victoria
,
Bruckmann, Astrid
,
Graus, Veronika
,
McConkie-Rosell, Allyn
,
McDonald, Marie
,
Lozic, Bernarda
,
Tan, Ee-Shien
,
Gerkes, Erica
,
Johannsen, Jessika
,
Denecke, Jonas
,
Telegrafi, Aida
,
Zonneveld-Huijssoon, Evelien
,
Lemmink, Henny H.
,
Cham, Breana W. M.
,
Kovacevic, Tanja
,
Ramsdell, Linda
,
Foss, Kimberly
,
Le Duc, Diana
,
Mitter, Diana
,
Syrbe, Steffen
,
Merkenschlager, Andreas
,
Sinnema, Margje
,
Panis, Bianca
,
Lazier, Joanna
,
Osmond, Matthew
,
Hartley, Taila
,
Mortreux, Jeremie
,
Busa, Tiffany
,
Missirian, Chantal
,
Prasun, Pankaj
,
Lüttgen, Sabine
,
Mannucci, Ilaria
,
Lessel, Ivana
,
Schob, Claudia
,
Kindler, Stefan
,
Pappas, John
,
Rabin, Rachel
,
Willemsen, Marjolein
,
Gardeitchik, Thatjana
,
Löhner, Katharina
,
Rump, Patrick
,
Dias, Kerith-Rae
,
Evans, Carey-Anne
,
Andrews, Peter Ian
,
Roscioli, Tony
,
Brunner, Han G.
,
Chijiwa, Chieko
,
Lewis, M. E. Suzanne
,
Jamra, Rami Abou
,
Dyment, David A.
,
Boycott, Kym M.
,
Stegmann, Alexander P. A.
,
Kubisch, Christian
,
Tan, Ene-Choo
,
Mirzaa, Ghayda M.
,
McWalter, Kirsty
,
Kleefstra, Tjitske
,
Pfundt, Rolph
,
Ignatova, Zoya
,
Meister, Gunter
,
Kreienkamp, Hans-Jürgen
Published in
Nature communications
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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
by
Serey-Gaut, Margaux
,
Cortes, Marisol
,
Makrythanasis, Periklis
,
Suri, Mohnish
,
Taylor, Alexander M.R.
,
Sullivan, Jennifer A.
,
Asleh, Ayat N.
,
Mitra, Jaba
,
Dar, Mohamad A.
,
McNamara, Amy
,
Shashi, Vandana
,
Dugan, Sarah
,
Song, Xiaofei
,
Rosenfeld, Jill A.
,
Cabrol, Christelle
,
Iwaszkiewicz, Justyna
,
Zoete, Vincent
,
Pehlivan, Davut
,
Akdemir, Zeynep Coban
,
Roeder, Elizabeth R.
,
Littlejohn, Rebecca Okashah
,
Dibra, Harpreet K.
,
Byrd, Philip J.
,
Stewart, Grant S.
,
Geckinli, Bilgen B.
,
Posey, Jennifer
,
Westman, Rachel
,
Jungbluth, Chelsy
,
Eason, Jacqueline
,
Sachdev, Rani
,
Evans, Carey-Anne
,
Lemire, Gabrielle
,
VanNoy, Grace E.
,
O’Donnell-Luria, Anne
,
Mau-Them, Frédéric Tran
,
Juven, Aurélien
,
Piard, Juliette
,
Nixon, Cheng Yee
,
Zhu, Ying
,
Ha, Taekjip
,
Buckley, Michael F.
,
Thauvin, Christel
,
Essien Umanah, George K.
,
Van Maldergem, Lionel
,
Lupski, James R.
,
Roscioli, Tony
,
Dawson, Valina L.
,
Dawson, Ted M.
,
Antonarakis, Stylianos E.
Published in
American journal of human genetics
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Clinically Responsive Genomic Analysis Pipelines
by
Sundercombe, Samantha Leigh
,
Berbic, Marina
,
Evans, Carey-Anne
,
Cliffe, Corrina
,
Elakis, George
,
Temple, Suzanna E.L.
,
Selvanathan, Arthavan
,
Ewans, Lisa
,
Quayum, Nila
,
Nixon, Cheng-Yee
,
Dias, Kerith-Rae
,
Lang, Sarah
,
Richards, Anna
,
Goh, Shuxiang
,
Wilson, Meredith
,
Mowat, David
,
Sachdev, Rani
,
Sandaradura, Sarah
,
Walsh, Maie
,
Farrar, Michelle A.
,
Walsh, Rebecca
,
Fletcher, Janice
,
Kirk, Edwin P.
,
Teunisse, Guus M.
,
Schofield, Deborah
,
Buckley, Michael Francis
,
Zhu, Ying
,
Roscioli, Tony
Published in
The Journal of molecular diagnostics : JMD
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10
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Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant
by
wood, Caitlin
,
Ashton, Katie
,
Zhu, Ying
,
Zhang, Futao
,
Dias, Kerith-Rae
,
Standen, Krystle
,
Evans, Carey-Anne
,
Carey, Louise
,
Cardamone, Michael
,
Shalhoub, Carolyn
,
Katf, Hala
,
Riveros, Carlos
,
Hsieh, Tzung-Chien
,
Krawitz, Peter
,
Robinson, Peter N
,
Dudding-Byth, Tracy
,
Sadikovic, Bekim
,
Pinner, Jason
,
Buckley, Michael F
,
Roscioli, Tony
Published in
American journal of medical genetics. Part C, Seminars in medical genetics
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The impact of childhood maltreatment history on parenting: A comparison of maltreatment types and assessment methods
by
Bailey, Heidi N
,
DeOliveira, Carey Anne
,
Wolfe, Vicky Veitch
,
Evans, Elspeth M
,
Hartwick, Cailey
Published in
Child abuse & neglect
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