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PloS one, 2018-06, Vol.13 (6), p.e0197976-e0197976
2018
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Frontiers in public health, 2022-03, Vol.10, p.831762-831762
2022
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Clinical rehabilitation, 2021-02, Vol.35 (2), p.253-265
2021
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Genetics in medicine, 2021-04, Vol.23 (4), p.740-750
- Ruiter, Jos P.N.
- van Lint, Alida E.M.
- Pras-Raves, Mia
- Wever, Eric
- Guillen Sacoto, Maria J.
- Begtrup, Amber
- Tarnopolsky, Mark
- Sell, Susan L.
- Nowak, Catherine B.
- Douglas, Jessica
- Perlman, Seth
- Martin, Nicole
- Brault, Jennifer
- Gahl, William A.
- Alejandro, Mercedes E.
- Dai, Hongzheng
- Dhar, Shweta U.
- Hanchard, Neil A.
- Lee, Brendan H.
- Moretti, Paolo M.
- Murdock, David R.
- Nicholas, Sarah K.
- Potocki, Lorraine
- Scott, Daryl A.
- Eng, Christine M.
- Deardorff, Matthew
- Hassey, Kelly
- Sullivan, Kathleen
- Tan, Queenie K.-G.
- Beggs, Alan H.
- Berry, Gerard T.
- Cooper, Cynthia M.
- Pallais, J. Carl
- Rodan, Lance H.
- Kelley, Emily G.
- Morava, Eva
- Forghani, Irman
- Lam, Byron
- Levitt, Roy
- Liu, Xue Zhong
- McCauley, Jacob
- Tekin, Mustafa
- Thorson, Willa
- Findley, Laurie C.
- Krasnewich, Donna M.
- Manolio, Teri A.
- Goldrich, Madison P.
- Draper, David D.
- Nath, Avi
- Pusey, Barbara N.
- Toro, Camilo
- Baker, Eva
- Gochuico, Bernadette
- Mosbrook-Davis, Deborah
- Rossignol, Francis
- Adam, Margaret
- Amendola, Laura
- Cunningham, Michael
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Lam, Christina
- Raskind, Wendy
- Sybert, Virginia
- Ashley, Euan A.
- Coakley, Terra R.
- Hom, Jason
- Majcherska, Marta M.
- Martin, Beth A.
- Marwaha, Shruti
- Ruzhnikov, Maura
- Tabor, Holly K.
- Tucker, Brianna M.
- Zastrow, Diane B.
- Byrd, William E.
- Dell’Angelica, Esteban C.
- Douine, Emilie D.
- Mak, Bryan C.
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- McGee, Elisabeth
- Nelson, Stanley F.
- Parker, Neil H.
- Sinsheimer, Janet S.
- Wang, Lee-kai
- Perry, Katherine Wesseling
- Woods, Jeremy D.
- Pace, Laura
- Marth, Gabor
- Viskochil, Dave
- Bayrak-Toydemir, Pinar
- Duncan, Laura
- Robertson, Amy K.
- Solem, Emily
- Schedl, Timothy
- Shin, Jimann
- Solnica-Krezel, Lilianna
- Waisfisz, Quinten
- Zwijnenburg, Petra J.G.
- Wanders, Ronald J.A.
- Vaz, Frédéric M.
2021
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Proceedings of the National Academy of Sciences - PNAS, 2024-02, Vol.121 (9), p.e2322582121
2024
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American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.473-487
2022
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American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63556-n/a
- Forghani, Irman
- Adam, Margaret
- Azamian, Mahshid S.
- Baker, Eva
- Baldridge, Dustin
- Bale, Jim
- Beck, Anita
- Berg‐Rood, Beverly
- Berry, Gerard T.
- Bican, Anna
- Boyd, Brenna
- Briere, Lauren C.
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byers, Peter
- Carey, John
- Chang, Ta Chen Peter
- Cogan, Joy D.
- Colley, Heather A.
- D'Souza, Precilla
- Dasari, Surendra
- Dell'Angelica, Esteban C.
- Duncan, Laura
- Eckstein, David J.
- Emrick, Lisa T.
- Eng, Christine M.
- Esteves, Cecilia
- Fernandez, Liliana
- Fieg, Elizabeth L.
- Gochuico, Bernadette
- Grajewski, Alana
- Hahn, Sihoun
- Hamid, Rizwan
- High, Frances
- Hing, Anne
- Hisama, Fuki M.
- Holm, Ingrid A.
- Huang, Yong
- Jamal, Fariha
- Jayadev, Suman
- Kohler, Jennefer N.
- Krakow, Deborah
- Kravets, Elijah
- Koziura, Mary
- Lam, Byron
- Lam, Christina
- Lanza, Ian R.
- LeBlanc, Kimberly
- Lee, Brendan H.
- Lee, Hane
- Levitt, Roy
- Liu, Pengfei
- Maas, Richard L.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Majcherska, Marta M.
- Manolio, Teri A.
- Marth, Gabor
- Martínez‐Agosto, Julian A.
- Marwaha, Shruti
- McCauley, Jacob
- McConkie‐Rosell, Allyn
- McGee, Elisabeth
- Might, Matthew
- Mirzaa, Ghayda
- Moretti, Paolo M.
- Mosbrook‐Davis, Deborah
- Murdock, David R.
- Nieves‐Rodriguez, Shirley
- Parker, Neil H.
- Phillips, John A.
- Power, Bradley
- Pusey, Barbara N.
- Quinlan, Aaron
- Raskind, Wendy
- Sacco, Ralph
- Sampson, Jacinda B.
- Saporta, Mario
- Shin, Jimann
- Silverman, Edwin K.
- Sinsheimer, Janet S.
- Solem, Emily
- Stoler, Joan M.
- Sun, Angela
- Tabor, Holly K.
- Tan, Amelia L. M.
- Telischi, Fred
- Tifft, Cynthia J.
- Toro, Camilo
- Tucker, Brianna M.
- Vogel, Tiphanie P.
- Wambach, Jennifer
- Wang, Lee‐kai
- Wegner, Daniel
- Wenger, Tara
- Westerfield, Monte
- Wolfe, Lynne A.
- Zein, Wadih
- Zuchner, Stephan
2024
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Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.210-9, Article 210
2021
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Clinical genetics, 2021-08, Vol.100 (2), p.227-233
2021
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American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2417-2433
- Bowles, Bradley
- Ferrer, Alejandro
- Nishimura, Carla J.
- Pinto e Vairo, Filippo
- Rey, Tristan
- Leheup, Bruno
- Sullivan, Jennifer
- Schoch, Kelly
- Stong, Nicholas
- Agolini, Emanuele
- Cocciadiferro, Dario
- Williams, Abigail
- Cummings, Alex
- Loddo, Sara
- Genovese, Silvia
- Roadhouse, Chelsea
- McWalter, Kirsty
- Wentzensen, Ingrid M.
- Li, Chumei
- Babovic‐Vuksanovic, Dusica
- Lanpher, Brendan C.
- Dentici, Maria Lisa
- Ankala, Arun
- Hamm, J. Austin
- Dallapiccola, Bruno
- Radio, Francesca Clementina
- Shashi, Vandana
- Gérard, Benedicte
- Bloch‐Zupan, Agnes
- Smith, Richard J.
- Klee, Eric W.
2021
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Clinical ethics, 2020-09, Vol.15 (3), p.141-147
2020
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American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1911-1916
- Bivona, Stephanie
- Peart, LéShon
- Guo, Shengru
- Adam, Margaret
- Agrawal, Pankaj B.
- Alvey, Justin
- Balasubramanyam, Ashok
- Bayrak‐Toydemir, Pinar
- Beck, Anita
- Bohnsack, John
- Bonner, Devon
- Botto, Lorenzo
- Butte, Manish J.
- Chanprasert, Sirisak
- Clark, Gary D.
- Coggins, Matthew
- Cope, Heidi
- Craigen, William J.
- Dorrani, Naghmeh
- Doss, Argenia L.
- Douine, Emilie D.
- Earl, Dawn
- Eckstein, David J.
- Emrick, Lisa T.
- Ferreira, Carlos
- Fisher, Paul G.
- Gahl, William A.
- Goldman, Alica M.
- Goldstein, David B.
- Grajewski, Alana
- Groden, Catherine A.
- Hamid, Rizwan
- Hanchard, Neil A.
- Hassey, Kelly
- Hayes, Nichole
- Horike‐Pyne, Martha
- Huang, Alden
- Huang, Yong
- Huryn, Laryssa
- Isasi, Rosario
- Jarvik, Gail P.
- Kennedy, Jennifer
- Kiley, Dana
- Kohane, Isaac S.
- Krakow, Deborah
- Krasnewich, Donna M.
- Kravets, Elijah
- Korrick, Susan
- Koziura, Mary
- Krier, Joel B.
- Lalani, Seema R.
- Lam, Christina
- LaMoure, Grace L.
- Lee, Brendan H.
- Lincoln, Sharyn A.
- Loo, Sandra K.
- Maduro, Valerie V.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Mao, Rong
- Maravilla, Kenneth
- Marom, Ronit
- Martin, Beth A.
- Marwaha, Shruti
- Mefford, Heather
- Morava, Eva
- Mulvihill, John J.
- Nakano‐Okuno, Mariko
- Nath, Avi
- Nickerson, Deborah
- Nieves‐Rodriguez, Shirley
- Pallais, J. Carl
- Raskind, Wendy
- Renteria, Genecee
- Ruzhnikov, Maura
- Samson, Susan L.
- Shashi, Vandana
- Silverman, Edwin K.
- Sisco, Kathy
- Solnica‐Krezel, Lilianna
- Solomon, Ben
- Sun, Angela
- Sweetser, David A.
- Tan, Queenie K.‐G.
- Thorson, Willa
- Thurm, Audrey
- Tran, Alyssa A.
- Vanderver, Adeline
- Velinder, Matt
- Viskochil, Dave
- Wallace, Stephanie
- Walsh, Chris A.
- Wambach, Jennifer
- Wan, Jijun
- Ward, Patricia A.
- Wener, Mark
- Wenger, Tara
- Yang, John
- Yousef, Muhammad
2023
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Journal of genetic counseling, 2021-12, Vol.30 (6), p.1707-1718
2021
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American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2315-2324
2021
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Journal of genetic counseling, 2022-02, Vol.31 (1), p.59-70
- Tan, Queenie K.‐G.
- Palmer, Christina G. S.
- Adams, David R.
- Azamian, Mahshid S.
- Bademci, Guney
- Balasubramanyam, Ashok
- Baldridge, Dustin
- Bayrak‐Toydemir, Pinar
- Beck, Anita
- Berg‐Rood, Beverly
- Berry, Gerard T.
- Bican, Anna
- Bohnsack, John
- Boyd, Brenna
- Briere, Lauren C.
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byrd, William E.
- Carey, John
- Sessions Cole, F.
- Craigen, William J.
- Davids, Mariska
- Dorrani, Naghmeh
- Earl, Dawn
- Ferreira, Carlos
- Fisher, Paul G.
- Gahl, William A.
- Godfrey, Rena A.
- Goldman, Alica M.
- Gutierrez, Irma
- Hassey, Kelly
- Hayes, Nichole
- Hom, Jason
- Horike‐Pyne, Martha
- Huang, Alden
- Isasi, Rosario
- Johnston, Jean M.
- Kennedy, Jennifer
- Kiley, Dana
- Krasnewich, Donna M.
- Krier, Joel B.
- Lee, Hane
- Lincoln, Sharyn A.
- Liu, Xue Zhong
- Maas, Richard L.
- Macnamara, Ellen F.
- MacRae, Calum A.
- Maduro, Valerie V.
- Mak, Bryan
- Markello, Thomas C.
- Marom, Ronit
- Marth, Gabor
- Martínez‐Agosto, Julian A.
- McGee, Elisabeth
- Lawrence Merritt, J.
- Might, Matthew
- Mirzaa, Ghayda
- Moretti, Paolo M.
- Morimoto, Marie
- Murdock, David R.
- Newman, John H.
- Nickerson, Deborah
- Nieves‐Rodriguez, Shirley
- Novacic, Donna
- Oglesbee, Devin
- Carl Pallais, J.
- Papp, Jeanette C.
- Phillips, John A.
- Posey, Jennifer E.
- Raskind, Wendy
- Renteria, Genecee
- Rives, Lynette
- Rodan, Lance H.
- Rosenfeld, Jill A.
- Sampson, Jacinda B.
- Ron Scott, C.
- Schedl, Timothy
- Scott, Daryl A.
- Sillari, Catherine H.
- Sinsheimer, Janet S.
- Stoler, Joan M.
- Sullivan, Jennifer A.
- Sun, Angela
- Sutton, Shirley
- Tabor, Holly K.
- Tamburro, Cecelia P.
- Thorson, Willa
- Tran, Alyssa A.
- Tucker, Brianna M.
- Velinder, Matt
- Viskochil, Dave
- Vogel, Tiphanie P.
- Walsh, Chris A.
- Wang, Lee‐kai
- Wangler, Michael F.
- Wener, Mark
- Perry, Katherine Wesseling
- Wheeler, Matthew T.
- Whitlock, Jordan
- Woods, Jeremy D.
2022
Link zum Volltext
Journal of genetic counseling, 2021-04, Vol.30 (2), p.439-447
- LeBlanc, Kimberly
- Acosta, Maria T
- Adams, David R.
- Bacino, Carlos A.
- Bademci, Guney
- Bale, Jim
- Bamshad, Michael
- Barbouth, Deborah
- Beggs, Alan H.
- Bejerano, Gill
- Bivona, Stephanie
- Blue, Elizabeth
- Bonnenmann, Carsten
- Brokamp, Elly
- Butte, Manish J.
- Byrd, William E.
- Chang, Ta Chen Peter
- Coakley, Terra R.
- Cobban, Laurel A.
- Cogan, Joy D.
- Coggins, Matthew
- Colley, Heather A.
- Cooper, Cynthia M.
- Cunningham, Michael
- Dasari, Surendra
- Dayal, Jyoti G.
- Deardorff, Matthew
- Dell'Angelica, Esteban C.
- Duncan, Laura
- Eckstein, David J.
- Emrick, Lisa T.
- Eng, Christine M.
- Esteves, Cecilia
- Estwick, Tyra
- Fieg, Elizabeth L.
- Findley, Laurie C.
- Fresard, Laure
- Goldstein, David B.
- Grajewski, Alana
- Gropman, Andrea L.
- Hahn, Sihoun
- Hamid, Rizwan
- High, Frances
- Hing, Anne
- Hisama, Fuki M.
- Holm, Ingrid A.
- Huang, Yong
- Jarvik, Jeffrey
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Krakow, Deborah
- Kravets, Elijah
- Koziura, Mary
- Lam, Byron
- Lam, Christina
- Lanpher, Brendan C.
- Lau, C. Christopher
- Lee, Brendan H.
- Lewis, Richard A.
- Maduro, Valerie V.
- Mamounas, Laura A.
- Maravilla, Kenneth
- Marom, Ronit
- McCormack, Colleen E.
- McCray, Alexa T.
- Mefford, Heather
- Merritt, J. Lawrence
- Nicholas, Sarah K.
- Pak, Stephen
- Pallais, J. Carl
- Palmer, Christina G.S.
- Parker, Neil H.
- Raskind, Wendy
- Rao, Deepak A.
- Sacco, Ralph
- Scott, C. Ron
- Schaechter, Judy
- Schedl, Timothy
- Schoch, Kelly
- Sharma, Prashant
- Shin, Jimann
- Sillari, Catherine H.
- Sinsheimer, Janet S.
- Smith, Kevin S.
- Stoler, Joan M.
- Sullivan, Jennifer A.
- Sun, Angela
- Tamburro, Cecelia P.
- Telischi, Fred
- Toro, Camilo
- Vogel, Tiphanie P.
- Wahl, Colleen E.
- Perry, Katherine Wesseling
- Westerfield, Monte
- Wheeler, Matthew T.
- Whitlock, Jordan
- Woods, Jeremy D.
- Yamamoto, Shinya
- Yu, Guoyun
- Zhao, Chunli
2021
Link zum Volltext
Science advances, 2022-01, Vol.8 (3), p.eabl5613
- Marcogliese, Paul C
- Dutta, Debdeep
- Ray, Shrestha Sinha
- Dang, Nghi D P
- Zuo, Zhongyuan
- Wang, Yuchun
- Lu, Di
- Fazal, Fatima
- Ravenscroft, Thomas A
- Chung, Hyunglok
- Kanca, Oguz
- Wan, JiJun
- Douine, Emilie D
- Network, Undiagnosed Diseases
- Pena, Loren D M
- Yamamoto, Shinya
- Nelson, Stanley F
- Might, Matthew
- Meyer, Kathrin C
- Yeo, Nan Cher
- Bellen, Hugo J
2022
Link zum Volltext
Molecular genetics & genomic medicine, 2022-04, Vol.10 (4), p.e1892-n/a
- Adams, David R.
- Bademci, Guney
- Baker, Eva
- Baldridge, Dustin
- Bale, Jim
- Barbouth, Deborah
- Beck, Anita
- Berg‐Rood, Beverly
- Berry, Gerard T.
- Brokamp, Elly
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byers, Peter
- Carey, John
- Chang, Ta Chen Peter
- Coakley, Terra R.
- Colley, Heather A.
- Cooper, Cynthia M.
- Dasari, Surendra
- Dayal, Jyoti G.
- Duncan, Laura
- Eng, Christine M.
- Esteves, Cecilia
- Fernandez, Liliana
- Fieg, Elizabeth L.
- Forghani, Irman
- Glass, Ian
- Gochuico, Bernadette
- Golden‐Grant, Katie
- Goldrich, Madison P.
- Grajewski, Alana
- Hahn, Sihoun
- Hamid, Rizwan
- Hing, Anne
- Holm, Ingrid A.
- Huang, Yong
- Jamal, Fariha
- Jayadev, Suman
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Kravets, Elijah
- Lam, Byron
- Lam, Christina
- Lee, Hane
- Levitt, Roy
- Liu, Pengfei
- Liu, Xue Zhong
- Longo, Nicola
- Maas, Richard L.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Manolio, Teri A.
- Marth, Gabor
- Martínez‐Agosto, Julian A.
- McCauley, Jacob
- McConkie‐Rosell, Allyn
- McGee, Elisabeth
- Might, Matthew
- Moretti, Paolo M.
- Mosbrook‐Davis, Deborah
- Nagy, Anna
- Nelson, Stan F.
- Nicholas, Sarah K.
- Orengo, James P.
- Pace, Laura
- Pallais, J. Carl
- Parker, Neil H.
- Phillips, John A.
- Power, Bradley
- Pusey, Barbara N.
- Quinlan, Aaron
- Rao, Deepak A.
- Robertson, Amy K.
- Rosenwasser, Natalie
- Rossignol, Francis
- Sacco, Ralph
- Sampson, Jacinda B.
- Saporta, Mario
- Scott, C. Ron
- Scott, Daryl A.
- Shin, Jimann
- Silverman, Edwin K.
- Sinsheimer, Janet S.
- Solem, Emily
- Stoler, Joan M.
- Sullivan, Jennifer A.
- Tifft, Cynthia J.
- Toro, Camilo
- Vanderver, Adeline
- Vogel, Tiphanie P.
- Walker, Melissa
- Wambach, Jennifer
- Wang, Lee‐kai
- Ward, Patricia A.
- Wegner, Daniel
- Wenger, Tara
- Westerfield, Monte
- Wolfe, Lynne A.
- Woods, Jeremy D.
- Yang, John
2022
Link zum Volltext
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