Researcher
Kaitlin Samocha
Massachusetts General Hospital
Statistics
46 papers found
All papers authored by Kaitlin Samocha
Refreshing results…
2024
Qin Huang 
,
Emilie M. Wigdor,
Daniel S. Malawsky,
Patrick Campbell,
Kaitlin E. Samocha ,
V. Kartik Chundru ,
Petr Danecek,
Sarah Lindsay ,
Thomas Marchant,
Mahmoud Koko ,
Sana Amanat,
Davide Bonfanti,
Eamonn Sheridan,
Elizabeth J. Radford ,
Jeffrey C. Barrett
and 6 other authors
,
Emilie M. Wigdor,
Daniel S. Malawsky,
Patrick Campbell,
Kaitlin E. Samocha ,
V. Kartik Chundru ,
Petr Danecek,
Sarah Lindsay ,
Thomas Marchant,
Mahmoud Koko ,
Sana Amanat,
Davide Bonfanti,
Eamonn Sheridan,
Elizabeth J. Radford ,
Jeffrey C. Barrett
and 6 other authors
Examining the role of common variants in rare neurodevelopmental conditions
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V. Kartik Chundru ,
Zhancheng Zhang,
Klaudia Walter ,
Sarah J. Lindsay ,
Petr Danecek,
Ruth Y. Eberhardt ,
Eugene J. Gardner ,
Daniel S. Malawsky,
Emilie M. Wigdor,
Rebecca Torene ,
Kyle Retterer,
Caroline F. Wright ,
Hildur Ólafsdóttir,
Maria J. Guillen Sacoto,
Akif Ayaz
and 14 other authors
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,
Zhancheng Zhang,
Klaudia Walter ,
Sarah J. Lindsay ,
Petr Danecek,
Ruth Y. Eberhardt ,
Eugene J. Gardner ,
Daniel S. Malawsky,
Emilie M. Wigdor,
Rebecca Torene ,
Kyle Retterer,
Caroline F. Wright ,
Hildur Ólafsdóttir,
Maria J. Guillen Sacoto,
Akif Ayaz
and 14 other authors
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2023
Emilie M. Wigdor,
Kaitlin E. Samocha ,
Ruth Y. Eberhardt,
V. Kartik Chundru,
Helen V. Firth,
Caroline F. Wright,
Matthew E. Hurles,
Hilary C. Martin
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,
Ruth Y. Eberhardt,
V. Kartik Chundru,
Helen V. Firth,
Caroline F. Wright,
Matthew E. Hurles,
Hilary C. Martin
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2022
Ryan L. Collins ,
Joseph T. Glessner ,
Eleonora Porcu,
Maarja Lepamets,
Rhonda Brandon,
Christopher Lauricella,
Lide Han,
Theodore Morley,
Lisa-Marie Niestroj ,
Jacob Ulirsch ,
Selin Everett,
Daniel P. Howrigan ,
Philip M. Boone ,
Jack Fu,
Konrad J. Karczewski
and 36 other authors
,
Joseph T. Glessner ,
Eleonora Porcu,
Maarja Lepamets,
Rhonda Brandon,
Christopher Lauricella,
Lide Han,
Theodore Morley,
Lisa-Marie Niestroj ,
Jacob Ulirsch ,
Selin Everett,
Daniel P. Howrigan ,
Philip M. Boone ,
Jack Fu,
Konrad J. Karczewski
and 36 other authors
A cross-disorder dosage sensitivity map of the human genome
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Eugene J. Gardner,
Matthew D. C. Neville ,
Kaitlin E. Samocha ,
Kieron Barclay,
Martin Kolk ,
Mari E. K. Niemi ,
George Kirov,
Hilary C. Martin ,
Matthew E. Hurles
,
Kaitlin E. Samocha ,
Kieron Barclay,
Martin Kolk ,
Mari E. K. Niemi ,
George Kirov,
Hilary C. Martin ,
Matthew E. Hurles
Reduced reproductive success is associated with selective constraint on human genes
Download from doi.org
2021
Hilary C. Martin,
Silvia Borras,
Caroline Clark,
Eugene J. Gardner,
John Dean,
Zosia Miedzybrodzka,
Alison Ross,
Stephen Tennant,
Tabib Dabir,
Kaitlin E. Samocha ,
Deirdre Donnelly,
Mervyn Humphreys,
Alex Magee,
Vivienne McConnell,
Shane McKee
and 252 other authors
,
Deirdre Donnelly,
Mervyn Humphreys,
Alex Magee,
Vivienne McConnell,
Shane McKee
and 252 other authors
The contribution of X-linked coding variation to severe developmental disorders
Download from www.nature.com
2020
Caroline F. Wright,
Nicholas M. Quaife,
Laura Ramos-Hernández,
Petr Danecek,
Matteo P. Ferla,
Kaitlin E. Samocha ,
Joanna Kaplanis,
Eugene J. Gardner,
Ruth Y. Eberhardt,
Katherine R. Chao,
Konrad J. Karczewski,
Joannella Morales,
Meena Balasubramanian,
Siddharth Banka,
Lianne Gompertz
and 17 other authors
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,
Joanna Kaplanis,
Eugene J. Gardner,
Ruth Y. Eberhardt,
Katherine R. Chao,
Konrad J. Karczewski,
Joannella Morales,
Meena Balasubramanian,
Siddharth Banka,
Lianne Gompertz
and 17 other authors
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Joanna Kaplanis,
Kaitlin E. Samocha ,
Laurens Wiel ,
Zhancheng Zhang,
Ruth Y. Eberhardt,
Giuseppe Gallone,
Stefan H. Lelieveld,
Hilary C. Martin,
Jeremy F. McRae,
Patrick J. Short,
Rebecca I. Torene,
Elke de Boer,
Petr Danecek,
Eugene J. Gardner,
Ni Huang
and 268 other authors
,
Laurens Wiel ,
Zhancheng Zhang,
Ruth Y. Eberhardt,
Giuseppe Gallone,
Stefan H. Lelieveld,
Hilary C. Martin,
Jeremy F. McRae,
Patrick J. Short,
Rebecca I. Torene,
Elke de Boer,
Petr Danecek,
Eugene J. Gardner,
Ni Huang
and 268 other authors
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Download from www.nature.com
2019
Joanna Kaplanis,
Kaitlin E. Samocha ,
Laurens Wiel,
Zhancheng Zhang,
Kevin J. Arvai,
Ruth Y. Eberhardt,
Giuseppe Gallone,
Stefan H. Lelieveld,
Hilary C. Martin,
Jeremy F. McRae,
Patrick J. Short,
Rebecca I. Torene,
Elke de Boer,
Petr Danecek,
Eugene J. Gardner
and 18 other authors
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,
Laurens Wiel,
Zhancheng Zhang,
Kevin J. Arvai,
Ruth Y. Eberhardt,
Giuseppe Gallone,
Stefan H. Lelieveld,
Hilary C. Martin,
Jeremy F. McRae,
Patrick J. Short,
Rebecca I. Torene,
Elke de Boer,
Petr Danecek,
Eugene J. Gardner
and 18 other authors
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Eugene J. Gardner ,
Elena Prigmore,
Giuseppe Gallone,
Petr Danecek,
Kaitlin E. Samocha ,
Juliet Handsaker,
Sebastian S. Gerety ,
Holly Ironfield,
Patrick J. Short ,
Alejandro Sifrim,
Tarjinder Singh ,
Kate E. Chandler,
Emma Clement,
Katherine L. Lachlan,
Katrina Prescott
and 4 other authors
,
Elena Prigmore,
Giuseppe Gallone,
Petr Danecek,
Kaitlin E. Samocha ,
Juliet Handsaker,
Sebastian S. Gerety ,
Holly Ironfield,
Patrick J. Short ,
Alejandro Sifrim,
Tarjinder Singh ,
Kate E. Chandler,
Emma Clement,
Katherine L. Lachlan,
Katrina Prescott
and 4 other authors
Contribution of retrotransposition to developmental disorders
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2018
Daniel P. Howrigan,
Samuel A. Rose,
Kaitlin E. Samocha ,
Menachem Fromer,
Felecia Cerrato,
Wei J. Chen,
Claire Churchhouse,
Kimberly Chambert,
Sharon D. Chandler,
Mark J. Daly,
Ashley Dumont,
Giulio Genovese,
Hai-Gwo Hwu,
Nan Laird,
Jack A. Kosmicki
and 9 other authors
,
Menachem Fromer,
Felecia Cerrato,
Wei J. Chen,
Claire Churchhouse,
Kimberly Chambert,
Sharon D. Chandler,
Mark J. Daly,
Ashley Dumont,
Giulio Genovese,
Hai-Gwo Hwu,
Nan Laird,
Jack A. Kosmicki
and 9 other authors
Schizophrenia risk conferred by protein-coding de novo mutations
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A. Jeremy Willsey,
Thomas V. Fernandez,
Dongmei Yu,
Robert A. King,
Andrea Dietrich ,
Jinchuan Xing,
Stephan J. Sanders,
Jeffrey D. Mandell,
Alden Y. Huang,
Petra Richer,
Louw Smith,
Shan Dong,
Kaitlin E. Samocha ,
Benjamin M. Neale,
Giovanni Coppola
and 91 other authors
,
Jinchuan Xing,
Stephan J. Sanders,
Jeffrey D. Mandell,
Alden Y. Huang,
Petra Richer,
Louw Smith,
Shan Dong,
Kaitlin E. Samocha ,
Benjamin M. Neale,
Giovanni Coppola
and 91 other authors
De Novo Coding Variants Are Strongly Associated with Tourette Disorder
Download from europepmc.org
Christopher A. Cassa,
Donate Weghorn,
Daniel J. Balick,
Daniel M. Jordan,
David Nusinow ,
Kaitlin E. Samocha ,
Anne O'Donnell-Luria,
Daniel G. MacArthur,
Mark J. Daly ,
David R. Beier,
Shamil R. Sunyaev
,
Kaitlin E. Samocha ,
Anne O'Donnell-Luria,
Daniel G. MacArthur,
Mark J. Daly ,
David R. Beier,
Shamil R. Sunyaev
Estimating the selective effects of heterozygous protein-truncating variants from human exome data
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Danish Saleheen,
Pradeep Natarajan,
Irina M. Armean,
Wei Zhao,
Asif Rasheed,
Sumeet A. Khetarpal,
Hong-Hee Won,
Konrad J. Karczewski,
Anne H. O’Donnell-Luria,
Kaitlin E. Samocha ,
Benjamin Weisburd,
Namrata Gupta,
Mozzam Zaidi,
Maria Samuel,
Atif Imran
and 28 other authors
,
Benjamin Weisburd,
Namrata Gupta,
Mozzam Zaidi,
Maria Samuel,
Atif Imran
and 28 other authors
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
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Jack A. Kosmicki,
Kaitlin E. Samocha ,
Daniel P. Howrigan,
Stephan J. Sanders ,
Kamil Slowikowski,
Monkol Lek,
Konrad J. Karczewski,
David J. Cutler,
Bernie Devlin,
Kathryn Roeder ,
Joseph D. Buxbaum,
Benjamin M. Neale ,
Daniel G. MacArthur,
Dennis P. Wall,
Elise B. Robinson
and 1 other authors
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,
Daniel P. Howrigan,
Stephan J. Sanders ,
Kamil Slowikowski,
Monkol Lek,
Konrad J. Karczewski,
David J. Cutler,
Bernie Devlin,
Kathryn Roeder ,
Joseph D. Buxbaum,
Benjamin M. Neale ,
Daniel G. MacArthur,
Dennis P. Wall,
Elise B. Robinson
and 1 other authors
Download from www.nature.com
Nd D. Shaw,
Harrison Brand,
Za A. Kupchinsky,
Hemant Bengani,
Ti Jones,
Lacey Plummer,
Takako I. Jones,
Serkan Erdin ,
Ka A. Williamson,
Alexei Stortchevoi,
Kaitlin Samocha ,
Ds S. Dunican,
Benjamin Bb Currall,
Rl L. Collins ,
Jason R. Willer
and 65 other authors
Download from www.nature.com
,
Ka A. Williamson,
Alexei Stortchevoi,
Kaitlin Samocha ,
Ds S. Dunican,
Benjamin Bb Currall,
Rl L. Collins ,
Jason R. Willer
and 65 other authors
Download from www.nature.com
Dennis Lal,
Patrick May,
Kaitlin Samocha ,
Jack Kosmicki,
Elise Robinson,
Rikke Moller,
Roland Krause,
Peter Nuernberg,
Sarah Weckhuysen,
Peter De Jonghe,
Renzo Guerrini,
Lisa-Marie Neupert,
Juliana Du,
Eduardo Perez-Palma,
Carla Marini
and 16 other authors
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,
Jack Kosmicki,
Elise Robinson,
Rikke Moller,
Roland Krause,
Peter Nuernberg,
Sarah Weckhuysen,
Peter De Jonghe,
Renzo Guerrini,
Lisa-Marie Neupert,
Juliana Du,
Eduardo Perez-Palma,
Carla Marini
and 16 other authors
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