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Janet Hall
Shaw et al., 2017
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@article{Shaw2017, author = {Shaw, Natalie D. and Brand, Harrison and Kupchinsky, Zachary A. and Bengani, Hemant and Plummer, Lacey and Jones, Takako I. and Erdin, Serkan and Williamson, Kathleen A. and Rainger, Joe and Stortchevoi, Alexei and Samocha, Kaitlin and Currall, Benjamin B. and Dunican, Donncha S. and Collins, Ryan L. and Willer, Jason R. and Lek, Angela and Lek, Monkol and Nassan, Malik and Pereira, Shahrin and Kammin, Tammy and Lucente, Diane and Silva, Alexandra and Seabra, Catarina M. and Chiang, Colby and An, Yu and Ansari, Morad and Rainger, Jacqueline K. and Joss, Shelagh and Smith, Jill Clayton and Lippincott, Margaret F. and Singh, Syliva S. and Patel, Nirav and Jing, Jenny W. and Law, Jennifer R. and Ferraro, Nalton and Verloes, Alain and Rauch, Anita and Steindl, Katharina and Zweier, Markus and Scheer, Ianina and Sato, Daisuke and Okamoto, Nobuhiko and Jacobsen, Christiana and Tryggestad, Jeanine and Chernausek, Steven D. and Schimmenti, Lisa A. and Brasseur, Benjamin and Cesaretti, Claudia and Garcia-Ortiz, Jose E. and Pineda Buitrago, Tatiana and Perez Silva, Orlando and Hoffman, Jodi D. and Muhlbauer, Wolfgang and Ruprecht, Klaus W. and Loeys, Bart L. and Shino, Masato and Kaindl, Angela M. and Balasubramanian, Ravikumar and Hall, Janet E. and Seminara, Stephanie B. and Macarthur, Daniel and Moore, Steven A. and Yoshiura, Koh-Ichiro and Gusella, James F. and Marsh, Joseph A. and Graham, John M. and Lin, Angela E. and Katsanis, Nicholas and Jones, Peter L. and Crowley, William F. and Davis, Erica E. and Fitzpatrick, David R. and Talkowski, Michael E. and Cho, Chie-Hee and Morton, Cynthia C. and Meehan, Richard R. and Van Heyningen, Veronica and Liao, Eric C.}, month = {jan}, title = {Identification of Smchd1 Mutations in a Severe Form of Kallmann Syndrome (Ks) With Absence of the Nose (Arhinia) Attests to the Power of Extreme Phenotypes in Human Reproductive Gene Discovery}, year = {2017} }
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Identification of Smchd1 Mutations in a Severe Form of Kallmann Syndrome (Ks) With Absence of the Nose (Arhinia) Attests to the Power of Extreme Phenotypes in Human Reproductive Gene Discovery
Journal article published in 2017 by
Natalie D. Shaw
,
Harrison Brand
,
Zachary A. Kupchinsky
,
Hemant Bengani
,
Lacey Plummer
,
Takako I. Jones
,
Serkan Erdin
,
Kathleen A. Williamson
,
Joe Rainger
,
Alexei Stortchevoi
,
Kaitlin Samocha
,
Benjamin B. Currall
,
Donncha S. Dunican
,
Ryan L. Collins
,
Jason R. Willer
and
other authors.
Natalie D. Shaw
,
Harrison Brand
,
Zachary A. Kupchinsky
,
Hemant Bengani
,
Lacey Plummer
,
Takako I. Jones
,
Serkan Erdin
,
Kathleen A. Williamson
,
Joe Rainger
,
Alexei Stortchevoi
,
Kaitlin Samocha
,
Benjamin B. Currall
,
Donncha S. Dunican
,
Ryan L. Collins
,
Jason R. Willer
,
Angela Lek
,
Monkol Lek
,
Malik Nassan
,
Shahrin Pereira
,
Tammy Kammin
,
Diane Lucente
,
Alexandra Silva
,
Catarina M. Seabra
,
Colby Chiang
,
Yu An
,
Morad Ansari
,
Jacqueline K. Rainger
,
Shelagh Joss
,
Jill Clayton Smith
,
Margaret F. Lippincott
,
Syliva S. Singh
,
Nirav Patel
,
Jenny W. Jing
,
Jennifer R. Law
,
Nalton Ferraro
,
Alain Verloes
,
Anita Rauch
,
Katharina Steindl
,
Markus Zweier
,
Ianina Scheer
,
Daisuke Sato
,
Nobuhiko Okamoto
,
Christiana Jacobsen
,
Jeanine Tryggestad
,
Steven D. Chernausek
,
Lisa A. Schimmenti
,
Benjamin Brasseur
,
Claudia Cesaretti
,
Jose E. Garcia-Ortiz
,
Tatiana Pineda Buitrago
,
Orlando Perez Silva
,
Jodi D. Hoffman
,
Wolfgang Muhlbauer
,
Klaus W. Ruprecht
,
Bart L. Loeys
,
Masato Shino
,
Angela M. Kaindl
,
Ravikumar Balasubramanian
,
Janet E. Hall
,
Stephanie B. Seminara
,
Daniel Macarthur
,
Steven A. Moore
,
Koh-Ichiro Yoshiura
,
James F. Gusella
,
Joseph A. Marsh
,
John M. Graham
,
Angela E. Lin
,
Nicholas Katsanis
,
Peter L. Jones
,
William F. Crowley
,
Erica E. Davis
,
David R. Fitzpatrick
,
Michael E. Talkowski
,
Chie-Hee Cho
,
Cynthia C. Morton
,
Richard R. Meehan
,
Veronica Van Heyningen
,
Eric C. Liao
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