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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
235 auth.
Tianyun Wang,
Kendra Hoekzema,
D. Vecchio,
Huidan Wu,
Arvis Sulovari,
Bradley P. Coe,
Madelyn A. Gillentine,
Amy B. Wilfert,
L. Pérez-Jurado,
M. Kvarnung,
Yoeri Sleyp,
Rachel K. Earl,
J. Rosenfeld,
Madeleine R. Geisheker,
Lin Han,
...
Bing Du,
C. Barnett,
E. Thompson,
M. Shaw,
Renée Carroll,
K. Friend,
Rachael Catford,
E. Palmer,
Xiaobing Zou,
J. Ou,
Honghui Li,
Hui Guo,
J. Gerdts,
E. Avola,
G. Calabrese,
M. Elia,
D. Greco,
A. Lindstrand,
A. Nordgren,
B. Anderlid,
G. Vandeweyer,
Anke Van Dijck,
N. van der Aa,
Brooke G. McKenna,
M. Hančárová,
Sarka Bendova,
M. Havlovicová,
G. Malerba,
B. Bernardina,
P. Muglia,
A. van Haeringen,
M. Hoffer,
B. Franke,
G. Cappuccio,
M. Delatycki,
P. Lockhart,
M. Manning,
Pengfei Liu,
I. Scheffer,
N. Brunetti‐Pierri,
N. Rommelse,
David G. Amaral,
G. Santen,
E. Trabetti,
Z. Sedlacek,
Jake J. Michaelson,
Karen Pierce,
E. Courchesne,
R. Kooy,
John Acampado,
Andrea J. Ace,
Alpha Amatya,
Irina Astrovskaya,
Asif Bashar,
Elizabeth Brooks,
Martin E. Butler,
Lindsey A. Cartner,
Wubin Chin,
Wendy K. Chung,
A. Daniels,
P. Feliciano,
Christopher Fleisch,
Swami Ganesan,
William Jensen,
A. Lash,
Richard A Marini,
V. J. Myers,
Eirene O’Connor,
Chris Rigby,
B. E. Robertson,
Neelay Shah,
Swapnil Shah,
E. Singer,
L. Snyder,
Alexandra N. Stephens,
Jennifer Tjernagel,
Brianna M. Vernoia,
N. Volfovsky,
L. C. White,
Alexander Hsieh,
Yufeng Shen,
Xueya Zhou,
Tychele N. Turner,
Ethan Bahl,
T. Thomas,
Leo Brueggeman,
T. Koomar,
Jake J. Michaelson,
B. O’Roak,
Rebecca A. Barnard,
R. Gibbs,
D. Muzny,
A. Sabo,
Kelli L Ahmed,
Evan E. Eichler,
M. Siegel,
L. Abbeduto,
David G. Amaral,
Brittani A. Hilscher,
Deana D. Li,
Kaitlin Smith,
Samantha Thompson,
Charles M. Albright,
E. Butter,
S. Eldred,
Nathan Hanna,
Mark Jones,
D. Coury,
Jessica F. Scherr,
Taylor Pifher,
Erin Roby,
Brandy Dennis,
L. Higgins,
Melissa Brown,
M. Alessandri,
Anibal Gutierrez,
Melissa N. Hale,
Lynn M. Herbert,
H. Schneider,
Giancarla David,
R. Annett,
Dustin E Sarver,
Ivette Arriaga,
Alexies Camba,
A. Gulsrud,
Monica Haley,
J. McCracken,
Sophia Sandhu,
Maira Tafolla,
Wha S. Yang,
L. Carpenter,
Catherine C. Bradley,
Frampton Gwynette,
Patricia Manning,
R. Shaffer,
C. Thomas,
R. Bernier,
Emily A. Fox,
J. Gerdts,
Micah Pepper,
Theodore Ho,
Daniel Cho,
J. Piven,
Holly Lechniak,
L. Soorya,
R. Gordon,
Allison L. Wainer,
Lisa Yeh,
Cesar Ochoa-Lubinoff,
Nicole Russo,
E. Berry-Kravis,
Stephanie Booker,
C. Erickson,
Lisa M. Prock,
Katherine Pawlowski,
Emily T. Matthews,
S. Brewster,
M. Hojlo,
E. Abada,
Elena Lamarche,
Tianyun Wang,
S. Murali,
W. T. Harvey,
Hannah E. Kaplan,
Karen Pierce,
L. DeMarco,
S. Horner,
J. Pandey,
S. Plate,
M. Sahin,
K. Riley,
Erin Carmody,
J. Constantini,
A. Esler,
Ali Fatemi,
H. Hutter,
R. Landa,
Alexander P. McKenzie,
J. Neely,
Vini Singh,
Bonnie Van Metre,
Ericka L. Wodka,
E. Fombonne,
L. Huang-Storms,
Lillian D. Pacheco,
Sarah A. Mastel,
L. Coppola,
S. Francis,
Andrea Jarrett,
Suma Jacob,
Natasha Lillie,
Jaclyn A. Gunderson,
Dalia Istephanous,
Laura Simon,
Ori Wasserberg,
A. Rachubinski,
C. Rosenberg,
S. Kanne,
Amanda D. Shocklee,
N. Takahashi,
Shelby L. Bridwell,
Rebecca L. Klimczac,
M. A. Mahurin,
Hannah E. Cotrell,
Cortaiga A. Grant,
Samantha G. Hunter,
C. Martin,
Cora M. Taylor,
L. Walsh,
K. A. Dent,
Andrew Mason,
Anthony Sziklay,
Christopher J. Smith,
M. Nordenskjöld,
C. Romano,
H. Peeters,
R. Bernier,
J. Gécz,
K. Xia,
Evan E. Eichler
|
7 |
2020 |
7
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Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
12 auth.
C. Martin,
K. Wain,
M. Oetjens,
K. Tolwinski,
Emily Palen,
Abby E. Hare-Harris,
...
L. Habegger,
E. Maxwell,
J. Reid,
L. Walsh,
S. Myers,
D. Ledbetter
|
5 |
2020 |
5
🐜
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Availability of Services and Caregiver Burden: Supporting Individuals With Neurogenetic Conditions During the COVID-19 Pandemic
24 auth.
Michelle Kowanda,
Lindsey A. Cartner,
C. Kentros,
Alexa R. Geltzeiler,
Kaitlyn E. Singer,
W. C. Weaver,
Christopher D Lehman,
Simone Smith,
R. Smith,
L. Walsh,
...
Katharine Diehl,
Natalie Nagpal,
Elizabeth Brooks,
C. Mebane,
Ashley L. Wilson,
Alison R. Marvin,
L. C. White,
J. K. Law,
William Jensen,
A. Daniels,
Jennifer Tjernagel,
L. Snyder,
Cora M. Taylor,
W. Chung
|
4 |
2021 |
4
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Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population.
9 auth.
Hermela Shimelis,
M. Oetjens,
L. Walsh,
K. Wain,
Masa Znidarsic,
S. Myers,
...
B. Finucane,
D. Ledbetter,
C. Martin
|
3 |
2022 |
3
🐜
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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
235 auth.
Tianyun Wang,
Kendra Hoekzema,
D. Vecchio,
Huidan Wu,
Arvis Sulovari,
Bradley P. Coe,
Madelyn A. Gillentine,
Amy B. Wilfert,
L. Pérez-Jurado,
M. Kvarnung,
Yoeri Sleyp,
Rachel K. Earl,
J. Rosenfeld,
Madeleine R. Geisheker,
Lin Han,
...
Bing Du,
C. Barnett,
E. Thompson,
M. Shaw,
Renée Carroll,
K. Friend,
Rachael Catford,
E. Palmer,
Xiaobing Zou,
J. Ou,
Honghui Li,
Hui Guo,
J. Gerdts,
E. Avola,
G. Calabrese,
M. Elia,
D. Greco,
A. Lindstrand,
A. Nordgren,
B. Anderlid,
G. Vandeweyer,
Anke Van Dijck,
N. van der Aa,
Brooke G. McKenna,
M. Hančárová,
Sarka Bendova,
M. Havlovicová,
G. Malerba,
B. Bernardina,
P. Muglia,
A. van Haeringen,
M. Hoffer,
B. Franke,
G. Cappuccio,
M. Delatycki,
P. Lockhart,
M. Manning,
Pengfei Liu,
I. Scheffer,
N. Brunetti‐Pierri,
N. Rommelse,
David G. Amaral,
G. Santen,
E. Trabetti,
Z. Sedlacek,
J. Michaelson,
K. Pierce,
E. Courchesne,
R. Kooy,
John Acampado,
Andrea J. Ace,
Alpha Amatya,
Irina Astrovskaya,
Asif Bashar,
Elizabeth Brooks,
Martin E. Butler,
Lindsey A. Cartner,
Wubin Chin,
Wendy K. Chung,
A. Daniels,
P. Feliciano,
Christopher Fleisch,
Swami Ganesan,
William Jensen,
A. Lash,
Richard A Marini,
V. J. Myers,
Eirene O’Connor,
Chris Rigby,
B. E. Robertson,
Neelay Shah,
Swapnil Shah,
E. Singer,
L. Snyder,
Alexandra N. Stephens,
Jennifer Tjernagel,
Brianna M. Vernoia,
N. Volfovsky,
L. C. White,
Alexander Hsieh,
Yufeng Shen,
Xueya Zhou,
Tychele N. Turner,
Ethan Bahl,
T. Thomas,
Leo Brueggeman,
T. Koomar,
J. Michaelson,
B. O’Roak,
Rebecca A. Barnard,
R. Gibbs,
D. Muzny,
A. Sabo,
K. B. Ahmed,
Evan E. Eichler,
M. Siegel,
L. Abbeduto,
David G. Amaral,
Brittani A. Hilscher,
Deana D. Li,
Kaitlin Smith,
Samantha Thompson,
Charles M. Albright,
E. Butter,
S. Eldred,
Nathan Hanna,
Mark Jones,
D. Coury,
Jessica F. Scherr,
Taylor Pifher,
Erin Roby,
Brandy Dennis,
L. Higgins,
Melissa Brown,
M. Alessandri,
Anibal Gutierrez,
Melissa N. Hale,
Lynn M. Herbert,
H. Schneider,
Giancarla David,
R. Annett,
Dustin E Sarver,
Ivette Arriaga,
Alexies Camba,
A. Gulsrud,
Monica Haley,
J. McCracken,
Sophia Sandhu,
Maira Tafolla,
Wha S. Yang,
L. Carpenter,
Catherine C. Bradley,
Frampton Gwynette,
Patricia Manning,
R. Shaffer,
C. Thomas,
R. Bernier,
Emily A. Fox,
J. Gerdts,
Micah Pepper,
Theodore Ho,
Daniel Cho,
J. Piven,
Holly Lechniak,
L. Soorya,
R. Gordon,
Allison L. Wainer,
Lisa Yeh,
Cesar Ochoa-Lubinoff,
Nicole Russo,
E. Berry-Kravis,
Stephanie Booker,
C. Erickson,
Lisa M. Prock,
Katherine Pawlowski,
Emily T. Matthews,
S. Brewster,
M. Hojlo,
E. Abada,
Elena Lamarche,
Tianyun Wang,
S. Murali,
W. T. Harvey,
Hannah E. Kaplan,
K. Pierce,
L. DeMarco,
S. Horner,
J. Pandey,
S. Plate,
M. Sahin,
K. Riley,
Erin Carmody,
J. Constantini,
A. Esler,
Ali Fatemi,
H. Hutter,
R. Landa,
Alexander P. McKenzie,
J. Neely,
Vini Singh,
Bonnie Van Metre,
Ericka L. Wodka,
E. Fombonne,
L. Huang-Storms,
Lillian D. Pacheco,
Sarah A. Mastel,
L. Coppola,
S. Francis,
Andrea Jarrett,
Suma Jacob,
Natasha Lillie,
Jaclyn A. Gunderson,
Dalia Istephanous,
Laura Simon,
Ori Wasserberg,
A. Rachubinski,
C. Rosenberg,
S. Kanne,
Amanda D. Shocklee,
N. Takahashi,
Shelby L. Bridwell,
Rebecca L. Klimczac,
M. A. Mahurin,
Hannah E. Cotrell,
Cortaiga A. Grant,
Samantha G. Hunter,
C. Martin,
Cora M. Taylor,
L. Walsh,
K. A. Dent,
Andrew Mason,
Anthony Sziklay,
Christopher J. Smith,
M. Nordenskjöld,
C. Romano,
H. Peeters,
R. Bernier,
J. Gécz,
K. Xia,
Evan E. Eichler
|
3 |
2020 |
3
🐜
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🐜
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
262 auth.
Madelyn A. Gillentine,
Tianyun Wang,
Kendra Hoekzema,
J. Rosenfeld,
Pengfei Liu,
Hui Guo,
Chang Kim,
B. D. de Vries,
L. Vissers,
M. Nordenskjold,
M. Kvarnung,
A. Lindstrand,
A. Nordgren,
J. Gécz,
M. Iascone,
...
A. Cereda,
Agnese Scatigno,
S. Maitz,
G. Zanni,
E. Bertini,
C. Zweier,
S. Schuhmann,
Antje Wiesener,
Micah Pepper,
Heena Panjwani,
E. Torti,
Farida Abid,
I. Anselm,
S. Srivastava,
P. Atwal,
C. Bacino,
Gifty Bhat,
Katherine Cobian,
L. Bird,
J. Friedman,
M. Wright,
B. Callewaert,
F. Petit,
Sophie Mathieu,
A. Afenjar,
Celenie K. Christensen,
Kerry M. White,
O. Elpeleg,
Itai Berger,
Edward Espineli,
C. Fagerberg,
C. Brasch-Andersen,
L. K. Hansen,
T. Feyma,
S. Hughes,
I. Thiffault,
Bonnie R. Sullivan,
Shuang Yan,
Kory Keller,
B. Keren,
C. Mignot,
F. Kooy,
M. Meuwissen,
Alice A. Basinger,
M. Kukolich,
Meredith Philips,
Lucia Ortega,
M. Drummond-Borg,
Mathilde F Lauridsen,
K. Sørensen,
A. Lehman,
E. Lopez-Rangel,
Paul Levy,
D. Lessel,
T. Lotze,
Suneeta Madan‐Khetarpal,
Jessica Sebastian,
Jodie M. Vento,
D. Vats,
L. M. Benman,
S. McKee,
G. Mirzaa,
Candace Muss,
J. Pappas,
H. Peeters,
C. Romano,
M. Elia,
O. Galesi,
Marleen E. H. Simon,
K. V. van Gassen,
Kara L Simpson,
R. Stratton,
Sabeena Syed,
J. Thevenon,
I. V. Palafoll,
A. Vitobello,
M. Bournez,
L. Faivre,
K. Xia,
John Acampado,
Andrea J. Ace,
Alpha Amatya,
Irina Astrovskaya,
Asif Bashar,
Elizabeth Brooks,
Martin E. Butler,
Lindsey A. Cartner,
Wubin Chin,
Wendy K. Chung,
A. Daniels,
P. Feliciano,
Christopher Fleisch,
Swami Ganesan,
William Jensen,
A. Lash,
Richard A Marini,
V. J. Myers,
Eirene O’Connor,
Chris Rigby,
B. E. Robertson,
Neelay Shah,
Swapnil Shah,
Emily R. Singer,
Lee Anne G. Snyder,
Alexandra N. Stephens,
Jennifer Tjernagel,
Brianna M. Vernoia,
N. Volfovsky,
L. C. White,
Alexander Hsieh,
Yufeng Shen,
Xueya Zhou,
Tychele N. Turner,
Ethan Bahl,
T. Thomas,
Leo Brueggeman,
T. Koomar,
J. Michaelson,
B. O’Roak,
Rebecca A. Barnard,
R. Gibbs,
D. Muzny,
A. Sabo,
Kelli L. Baalman Ahmed,
Evan E. Eichler,
M. Siegel,
L. Abbeduto,
David G. Amaral,
Brittani A. Hilscher,
Deana D. Li,
Kaitlin Smith,
Samantha Thompson,
Charles M. Albright,
E. Butter,
S. Eldred,
Nathan Hanna,
Mark Jones,
D. Coury,
Jessica F. Scherr,
Taylor Pifher,
Erin Roby,
Brandy Dennis,
L. Higgins,
Melissa Brown,
M. Alessandri,
Anibal Gutierrez,
Melissa N. Hale,
Lynn M. Herbert,
H. Schneider,
Giancarla David,
R. Annett,
Dustin E Sarver,
Ivette Arriaga,
Alexies Camba,
A. Gulsrud,
Monica Haley,
J. McCracken,
Sophia Sandhu,
Maira Tafolla,
Wha S. Yang,
L. Carpenter,
Catherine C. Bradley,
Frampton Gwynette,
Patricia Manning,
R. Shaffer,
C. Thomas,
R. Bernier,
Emily A. Fox,
J. Gerdts,
Micah Pepper,
Theodore Ho,
Daniel Cho,
J. Piven,
Holly Lechniak,
L. Soorya,
R. Gordon,
Allison L. Wainer,
Lisa Yeh,
Cesar Ochoa-Lubinoff,
Nicole Russo,
E. Berry-Kravis,
Stephanie Booker,
C. Erickson,
Lisa M. Prock,
Katherine Pawlowski,
Emily T. Matthews,
S. Brewster,
M. Hojlo,
E. Abada,
Elena Lamarche,
Tianyun Wang,
S. Murali,
William T. Harvey,
Hannah E. Kaplan,
K. Pierce,
L. DeMarco,
S. Horner,
J. Pandey,
S. Plate,
M. Sahin,
K. Riley,
Erin Carmody,
J. Constantini,
A. Esler,
A. Fatemi,
H. Hutter,
R. Landa,
Alexander P. McKenzie,
J. Neely,
Vini Singh,
Bonnie Van Metre,
Ericka L. Wodka,
E. Fombonne,
L. Huang-Storms,
Lillian D. Pacheco,
Sarah A. Mastel,
L. Coppola,
S. Francis,
Andrea Jarrett,
Suma Jacob,
Natasha Lillie,
Jaclyn A. Gunderson,
Dalia Istephanous,
Laura Simon,
Ori Wasserberg,
A. Rachubinski,
C. Rosenberg,
S. Kanne,
Amanda D. Shocklee,
N. Takahashi,
Shelby L. Bridwell,
Rebecca L. Klimczac,
M. A. Mahurin,
Hannah E. Cotrell,
Cortaiga A. Grant,
Samantha G. Hunter,
C. Martin,
Cora M. Taylor,
L. Walsh,
K. A. Dent,
Andrew Mason,
Anthony Sziklay,
Christopher J. Smith,
Rachel K. Earl,
T. Nowakowski,
R. Bernier,
Evan E. Eichler
|
2 |
2021 |
2
🐜
|
|
🐬
|
Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.
Cora M. Taylor,
B. Finucane,
A. Moreno-De-Luca,
L. Walsh,
C. Martin,
D. Ledbetter
|
2 |
2022 |
2
🐬
|
