부산대학교 도서관

Cubbage, Nichole M.; Schilit, Samantha L. P.; Groff, Allison; Ernst, Stephanie; Nascarella, Marc A.

Healthcare. August, 2025, Vol. 13 Issue 16

Byrne, Alicia; Spurdle, Amanda; Palculict, Blake; Coe, Bradley; Deqiong, Ma; Lyon, Elaine; Groopman, Emily; Qian, Emily; Puffenberger, Erik; Riggs, Erin; Couch, Fergus; Maston, Glenn; Dziadzio, Hannah; Harraway, James; Mester, Jessica; Garcia, John; Lerner-Ellis, Jordan; Benson, Katherine; Avello, Kayleigh; McGoldrick, Kelly; Conlin, Laura; Zec, Lauren; Steeves, Marcie; Richardson, Marcy; Lebo, Matt; Kelly, Melissa; Gollob, Michael; Luo, Minjie; Ganapathi, Mythily; Watkins, Nicholas; Niu, Nifang; Sergouniotis, Panagiotis; Bayrak-Toydemir, Pinar; Schmidt, Ryan; Schilit, Samantha; Richards, Sarah; Pesaran, Tina; Pollin, Toni; Jobanputra, Vaidehi; Zhang, Wenying; Chen, Wuyan; Fan, Yuxin; Schmidt, Ryan J. ; Benson, Katherine A. ; Coe, Bradley P. ; Conlin, Laura K. ; Gollob, Michael H. ; Ma, Deqiong ; Palculict, T. Blake ; Pollin, Toni I. ; Rehm, Heidi L. ; Riggs, Erin R. ; Schilit, Samantha L.P. ; Sergouniotis, Panagiotis I. ; Tvrdik, Tatiana ; Lebo, Matthew S.

In Genetics in Medicine March 2024 26(3)

Miura, Hiromi; Nakamura, Ayaka; Kurosaki, Aki; Kotani, Ai; Motojima, Masaru; Tanaka, Keiko; Kakuta, Shigeru; Ogiwara, Sanae; Ohmi, Yuhsuke; Komaba, Hirotaka; Schilit, Samantha L. P.; Morton, Cynthia C; Gurumurthy, Channabasavaiah B.; Ohtsuka, Masato

BMC Genomics
BMC Genomics, Vol 25, Iss 1, Pp 1-11 (2024)

Carolyn Trunca; Nancy R. Mendell; Samantha L. P. Schilit

Current Protocols. 5

Samantha L. P. Schilit; Courtney Studwell; Pamela Flatley; Marc Listewnik; Lauren Mertens; Azra H. Ligon; Heather Mason‐Suares

Prenatal Diagnosis. 42:1545-1553

Jing-Yi Li; Yan-Yun Ying; Yu-Li Qian; Jian-Peng Chen; Yun Huang; Juan Liu; Ping-Ping Lv; Yi-Feng Liu; Xiao-Ling Hu; Samantha L. P. Schilit; Jian-Zhong Sheng; He-Feng Huang; Dan Zhang

Reproductive Sciences. 28:785-793

Current Sexual Health Reports. 11:331-341

Carolyn, Trunca; Nancy R, Mendell; Samantha L P, Schilit

Current Protocols. 2

Guess, Tiffany; Wheeler, Ferrin C.; Yenamandra, Ashwini; Schilit, Samantha L. P.; Anderson, Hannah S.; Bone, Kathleen M.; Carstens, Billie; Conlin, Laura; Dulik, Matthew C.; Dupont, Barbra R.; Fanning, Elizabeth; Gardner, Juli-Anne; Haag, Mary; Hilton, Benjamin A.; Johnson, Jill; Kogan, Jillene; Murry, Jacyln; Polonis, Katarzyna; Quigley, Denise I.; Repnikova, Elena A.; Rowsey, Ross A.; Spinner, Nancy; Stoeker, Mikayla; Thurston, Virginia; Wiley, Margaret; Zhang, Lei

GENETICS IN MEDICINE; OCT 2024, 26 10, p101212 9p.

Li, Jinli; Schilit, Samantha L. P.; Liang, Shanshan; Qin, Ningxin; Teng, Xiaoming; Zhang, Junyu

GENES; AUG 2024, 15 8, p1092 10p.

Samantha L. P. Schilit; Cynthia C. Morton

Schilit, S L P & Morton, C C 2018, '3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants', Human Genetics, pp. 1-8. https://doi.org/10.1007/s00439-017-1853-0

Claire Redin; Harrison Brand; Ryan L Collins; Tammy Kammin; Elyse Mitchell; Jennelle C Hodge; Carrie Hanscom; Vamsee Pillalamarri; Catarina M Seabra; Mary-Alice Abbott; Omar A Abdul-Rahman; Erika Aberg; Rhett Adley; Sofia L Alcaraz-Estrada; Fowzan S Alkuraya; Yu An; Mary-Anne Anderson; Caroline Antolik; Kwame Anyane-Yeboa; Joan F Atkin; Tina Bartell; Jonathan A Bernstein; Elizabeth Beyer; Ian Blumenthal; Ernie M H F Bongers; Eva H Brilstra; Chester W Brown; Hennie T Brüggenwirth; Bert Callewaert; Colby Chiang; Ken Corning; Helen Cox; Edwin Cuppen; Benjamin B Currall; Tom Cushing; Dezso David; Matthew A Deardorff; Annelies Dheedene; Marc D'Hooghe; Bert B A de Vries; Dawn L Earl; Heather L Ferguson; Heather Fisher; David R FitzPatrick; Pamela Gerrol; Daniela Giachino; Joseph T Glessner; Troy Gliem; Margo Grady; Brett H Graham; Cristin Griffis; Karen W Gripp; Andrea L Gropman; Andrea Hanson-Kahn; David J Harris; Mark A Hayden; Rosamund Hill; Ron Hochstenbach; Jodi D Hoffman; Robert J Hopkin; Monika W Hubshman; A Micheil Innes; Mira Irons; Melita Irving; Jessie C Jacobsen; Sandra Janssens; Tamison Jewett; John P Johnson; Marjolijn C Jongmans; Stephen G Kahler; David A Koolen; Jerome Korzelius; Peter M Kroisel; Yves Lacassie; William Lawless; Emmanuelle Lemyre; Kathleen Leppig; Alex V Levin; Haibo Li; Hong Li; Eric C Liao; Cynthia Lim; Edward J Lose; Diane Lucente; Michael J Macera; Poornima Manavalan; Giorgia Mandrile; Carlo L Marcelis; Lauren Margolin; Tamara Mason; Diane Masser-Frye; Michael W McClellan; Cinthya J Zepeda Mendoza; Björn Menten; Sjors Middelkamp; Liya R Mikami; Emily Moe; Shehla Mohammed; Tarja Mononen; Megan E Mortenson; Graciela Moya; Aggie W Nieuwint; Zehra Ordulu; Sandhya Parkash; Susan P Pauker; Shahrin Pereira; Danielle Perrin; Katy Phelan; Raul E Piña Aguilar; Pino J Poddighe; Giulia Pregno; Salmo Raskin; Linda Reis; William Rhead; Debra Rita; Ivo Renkens; Filip Roelens; Jayla Ruliera; Patrick Rump; Samantha L P Schilit; Ranad Shaheen; Rebecca Sparkes; Erica Spiegel; Blair Stevens; Matthew R Stone; Julia Tagoe; Joseph V Thakuria; Bregje W van Bon; Jiddeke van de Kamp; Ineke van Der Burgt; Ton van Essen; Conny M van Ravenswaaij-Arts; Markus J van Roosmalen; Sarah Vergult; Catharina M L Volker-Touw; Dorothy P Warburton; Matthew J Waterman; Susan Wiley; Anna Wilson; Maria de la Concepcion A Yerena-de Vega; Roberto T Zori; Brynn Levy; Han G Brunner; Nicole de Leeuw; Wigard P Kloosterman; Erik C Thorland; Cynthia C Morton; James F Gusella; Michael E Talkowski

Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, 'The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies', Nature Genetics, vol. 49, no. 1, pp. 36-45. https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, 'The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies', Nature Genetics, vol. 49, no. 1, pp. 36-45. https://doi.org/10.1038/ng.3720

Channabasavaiah B, Gurumurthy; M'hamed, Grati; Masato, Ohtsuka; Samantha L P, Schilit; Rolen M, Quadros; Xue Zhong, Liu

Human Genetics. 135:971-976

Mbarek, Hamdi; Gordon, Scott D.; Duffy, David L.; Hubers, Nikki; Mortlock, Sally; Beck, Jeffrey J.; Hottenga, Jouke-Jan; Pool, Rene; Dolan, Conor, V; Actkins, Ky'Era, V; Gerring, Zachary F.; Van Dongen, Jenny; Ehli, Erik A.; Iacono, William G.; Mcgue, Matt; Chasman, Daniel, I; Gallagher, C. Scott; Schilit, Samantha L. P.; Morton, Cynthia C.; Pare, Guillaume; Willemsen, Gonneke; Whiteman, David C.; Olsen, Catherine M.; Derom, Catherine; Vlietinck, Robert; Gudbjartsson, Daniel; Cannon-Albright, Lisa; Krapohl, Eva; Plomin, Robert; Magnusson, Patrik K. E.; Pedersen, Nancy L.; Hysi, Pirro; Mangino, Massimo; Spector, Timothy D.; Palviainen, Teemu; Milaneschi, Yuri; Penninnx, Brenda W.; Campos, Adrian, I; Ong, Ken K.; Perry, John R. B.; Lambalk, Cornelis B.; Kaprio, Jaakko; Olafsson, Isleifur; Duroure, Karine; Revenu, Celine; Renteria, Miguel E.; Yengo, Loic; Davis, Lea; Derks, Eske M.; Medland, Sarah E.; Stefansson, Hreinn; Stefansson, Kari; Del Bene, Filippo; Reversade, Bruno; Montgomery, Grant W.; Boomsma, Dorret, I; Martin, Nicholas G.

HUMAN REPRODUCTION; DEC 5 2023, 18p.

Samantha L P, Schilit; Arielle, Schilit Nitenson

Journal of Genetic Counseling. 26:276-278

Mbarek, Hamdi; Gordon, Scott D; Duffy, David L; Hubers, Nikki; Mortlock, Sally; Beck, Jeffrey J; Hottenga, Jouke-Jan; Pool, René; Dolan, Conor V; Actkins, Ky'Era V; Gerring, Zachary F; Dongen, Jenny Van; Ehli, Erik A; Iacono, William G; Mcgue, Matt; Chasman, Daniel I; Gallagher, C Scott; Schilit, Samantha L P; Morton, Cynthia C; Paré, Guillaume; et al

Human Reproduction (HUM REPROD), Jan2024; 39(1): 240-257. (18p)

Samantha L P, Schilit; Masato, Ohtsuka; Rolen M, Quadros; Channabasavaiah B, Gurumurthy

Current Protocols in Human Genetics. 91

Schilit, Samantha L. P.; Studwell, Courtney; Flatley, Pamela; Listewnik, Marc; Mertens, Lauren; Ligon, Azra H.; Mason-Suares, Heather

OBSTETRICAL & GYNECOLOGICAL SURVEY; MAY 2023, 78 5, p264-p266, 3p.

Schilit, Samantha L. P.; Studwell, Courtney; Flatley, Pamela; Listewnik, Marc; Mertens, Lauren; Ligon, Azra H.; Mason‐Suares, Heather

Prenatal Diagnosis (PRENATAL DIAGN), Nov2022; 42(12): 1545-1553. (9p)

Schilit, Samantha L. P.; Menon, Shreya; Friedrich, Corinna; Kammin, Tammy; Wilch, Ellen; Hanscom, Carrie; Jiang, Sizun; Kliesch, Sabine; Talkowski, Michael E.; Tuettelmann, Frank; MacQueen, Amy J.; Morton, Cynthia C.

AMERICAN JOURNAL OF HUMAN GENETICS; JAN 2 2020, 106 1, p41-p57, 17p.