Results
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1.
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SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. [electronic resource] by
- Schilit, Samantha L P
- Menon, Shreya
- Friedrich, Corinna
- Kammin, Tammy
- Wilch, Ellen
- Hanscom, Carrie
- Jiang, Sizun
- Kliesch, Sabine
- Talkowski, Michael E
- Tüttelmann, Frank
- MacQueen, Amy J
- Morton, Cynthia C
Producer: 20200417
In:
American journal of human genetics vol. 106
Availability: No items available.
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2.
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Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. [electronic resource] by
- Talkowski, Michael E
- Ernst, Carl
- Heilbut, Adrian
- Chiang, Colby
- Hanscom, Carrie
- Lindgren, Amelia
- Kirby, Andrew
- Liu, Shangtao
- Muddukrishna, Bhavana
- Ohsumi, Toshiro K
- Shen, Yiping
- Borowsky, Mark
- Daly, Mark J
- Morton, Cynthia C
- Gusella, James F
Producer: 20110606
In:
American journal of human genetics vol. 88
Availability: No items available.
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3.
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Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. [electronic resource] by
- Brand, Harrison
- Collins, Ryan L
- Hanscom, Carrie
- Rosenfeld, Jill A
- Pillalamarri, Vamsee
- Stone, Matthew R
- Kelley, Fontina
- Mason, Tamara
- Margolin, Lauren
- Eggert, Stacey
- Mitchell, Elyse
- Hodge, Jennelle C
- Gusella, James F
- Sanders, Stephan J
- Talkowski, Michael E
Producer: 20150925
In:
American journal of human genetics vol. 97
Availability: No items available.
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4.
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Clinical diagnosis by whole-genome sequencing of a prenatal sample. [electronic resource] by
- Talkowski, Michael E
- Ordulu, Zehra
- Pillalamarri, Vamsee
- Benson, Carol B
- Blumenthal, Ian
- Connolly, Susan
- Hanscom, Carrie
- Hussain, Naveed
- Pereira, Shahrin
- Picker, Jonathan
- Rosenfeld, Jill A
- Shaffer, Lisa G
- Wilkins-Haug, Louise E
- Gusella, James F
- Morton, Cynthia C
Producer: 20121214
In:
The New England journal of medicine vol. 367
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5.
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Potential molecular consequences of transgene integration: The R6/2 mouse example. [electronic resource] by
- Jacobsen, Jessie C
- Erdin, Serkan
- Chiang, Colby
- Hanscom, Carrie
- Handley, Renee R
- Barker, Douglas D
- Stortchevoi, Alex
- Blumenthal, Ian
- Reid, Suzanne J
- Snell, Russell G
- MacDonald, Marcy E
- Morton, A Jennifer
- Ernst, Carl
- Gusella, James F
- Talkowski, Michael E
Producer: 20181015
In:
Scientific reports vol. 7
Availability: No items available.
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6.
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Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. [electronic resource] by
- Schilit, Samantha Lp
- Currall, Benjamin B
- Yao, Ruen
- Hanscom, Carrie
- Collins, Ryan L
- Pillalamarri, Vamsee
- Lee, Dong-Young
- Kammin, Tammy
- Zepeda-Mendoza, Cinthya J
- Mononen, Tarja
- Nolan, Lisa S
- Gusella, James F
- Talkowski, Michael E
- Shen, Jun
- Morton, Cynthia C
Producer: 20170707
In:
European journal of human genetics : EJHG vol. 24
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7.
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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. [electronic resource] by
- Lindgren, Amelia M
- Hoyos, Tatiana
- Talkowski, Michael E
- Hanscom, Carrie
- Blumenthal, Ian
- Chiang, Colby
- Ernst, Carl
- Pereira, Shahrin
- Ordulu, Zehra
- Clericuzio, Carol
- Drautz, Joanne M
- Rosenfeld, Jill A
- Shaffer, Lisa G
- Velsher, Lea
- Pynn, Tania
- Vermeesch, Joris
- Harris, David J
- Gusella, James F
- Liao, Eric C
- Morton, Cynthia C
Producer: 20130618
In:
Human genetics vol. 132
Availability: No items available.
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8.
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Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. [electronic resource] by
- Brand, Harrison
- Pillalamarri, Vamsee
- Collins, Ryan L
- Eggert, Stacey
- O'Dushlaine, Colm
- Braaten, Ellen B
- Stone, Matthew R
- Chambert, Kimberly
- Doty, Nathan D
- Hanscom, Carrie
- Rosenfeld, Jill A
- Ditmars, Hillary
- Blais, Jessica
- Mills, Ryan
- Lee, Charles
- Gusella, James F
- McCarroll, Steven
- Smoller, Jordan W
- Talkowski, Michael E
- Doyle, Alysa E
Producer: 20141209
In:
American journal of human genetics vol. 95
Availability: No items available.
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9.
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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. [electronic resource] by
- Chiang, Colby
- Jacobsen, Jessie C
- Ernst, Carl
- Hanscom, Carrie
- Heilbut, Adrian
- Blumenthal, Ian
- Mills, Ryan E
- Kirby, Andrew
- Lindgren, Amelia M
- Rudiger, Skye R
- McLaughlan, Clive J
- Bawden, C Simon
- Reid, Suzanne J
- Faull, Richard L M
- Snell, Russell G
- Hall, Ira M
- Shen, Yiping
- Ohsumi, Toshiro K
- Borowsky, Mark L
- Daly, Mark J
- Lee, Charles
- Morton, Cynthia C
- MacDonald, Marcy E
- Gusella, James F
- Talkowski, Michael E
Producer: 20120530
In:
Nature genetics vol. 44
Availability: No items available.
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10.
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Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. [electronic resource] by
- Ordulu, Zehra
- Kammin, Tammy
- Brand, Harrison
- Pillalamarri, Vamsee
- Redin, Claire E
- Collins, Ryan L
- Blumenthal, Ian
- Hanscom, Carrie
- Pereira, Shahrin
- Bradley, India
- Crandall, Barbara F
- Gerrol, Pamela
- Hayden, Mark A
- Hussain, Naveed
- Kanengisser-Pines, Bibi
- Kantarci, Sibel
- Levy, Brynn
- Macera, Michael J
- Quintero-Rivera, Fabiola
- Spiegel, Erica
- Stevens, Blair
- Ulm, Janet E
- Warburton, Dorothy
- Wilkins-Haug, Louise E
- Yachelevich, Naomi
- Gusella, James F
- Talkowski, Michael E
- Morton, Cynthia C
Producer: 20170519
In:
American journal of human genetics vol. 99
Availability: No items available.
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11.
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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. [electronic resource] by
- Collins, Ryan L
- Brand, Harrison
- Redin, Claire E
- Hanscom, Carrie
- Antolik, Caroline
- Stone, Matthew R
- Glessner, Joseph T
- Mason, Tamara
- Pregno, Giulia
- Dorrani, Naghmeh
- Mandrile, Giorgia
- Giachino, Daniela
- Perrin, Danielle
- Walsh, Cole
- Cipicchio, Michelle
- Costello, Maura
- Stortchevoi, Alexei
- An, Joon-Yong
- Currall, Benjamin B
- Seabra, Catarina M
- Ragavendran, Ashok
- Margolin, Lauren
- Martinez-Agosto, Julian A
- Lucente, Diane
- Levy, Brynn
- Sanders, Stephan J
- Wapner, Ronald J
- Quintero-Rivera, Fabiola
- Kloosterman, Wigard
- Talkowski, Michael E
Producer: 20170707
In:
Genome biology vol. 18
Availability: No items available.
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12.
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Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. [electronic resource] by
- Talkowski, Michael E
- Maussion, Gilles
- Crapper, Liam
- Rosenfeld, Jill A
- Blumenthal, Ian
- Hanscom, Carrie
- Chiang, Colby
- Lindgren, Amelia
- Pereira, Shahrin
- Ruderfer, Douglas
- Diallo, Alpha B
- Lopez, Juan Pablo
- Turecki, Gustavo
- Chen, Elizabeth S
- Gigek, Carolina
- Harris, David J
- Lip, Va
- An, Yu
- Biagioli, Marta
- Macdonald, Marcy E
- Lin, Michael
- Haggarty, Stephen J
- Sklar, Pamela
- Purcell, Shaun
- Kellis, Manolis
- Schwartz, Stuart
- Shaffer, Lisa G
- Natowicz, Marvin R
- Shen, Yiping
- Morton, Cynthia C
- Gusella, James F
- Ernst, Carl
Producer: 20130214
In:
American journal of human genetics vol. 91
Availability: No items available.
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13.
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Implication of LRRC4C and DPP6 in neurodevelopmental disorders. [electronic resource] by
- Maussion, Gilles
- Cruceanu, Cristiana
- Rosenfeld, Jill A
- Bell, Scott C
- Jollant, Fabrice
- Szatkiewicz, Jin
- Collins, Ryan L
- Hanscom, Carrie
- Kolobova, Ilaria
- de Champfleur, Nicolas Menjot
- Blumenthal, Ian
- Chiang, Colby
- Ota, Vanessa
- Hultman, Christina
- O'Dushlaine, Colm
- McCarroll, Steve
- Alda, Martin
- Jacquemont, Sebastien
- Ordulu, Zehra
- Marshall, Christian R
- Carter, Melissa T
- Shaffer, Lisa G
- Sklar, Pamela
- Girirajan, Santhosh
- Morton, Cynthia C
- Gusella, James F
- Turecki, Gustavo
- Stavropoulos, Dimitri J
- Sullivan, Patrick F
- Scherer, Stephen W
- Talkowski, Michael E
- Ernst, Carl
Producer: 20171024
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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14.
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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. [electronic resource] by
- Talkowski, Michael E
- Rosenfeld, Jill A
- Blumenthal, Ian
- Pillalamarri, Vamsee
- Chiang, Colby
- Heilbut, Adrian
- Ernst, Carl
- Hanscom, Carrie
- Rossin, Elizabeth
- Lindgren, Amelia M
- Pereira, Shahrin
- Ruderfer, Douglas
- Kirby, Andrew
- Ripke, Stephan
- Harris, David J
- Lee, Ji-Hyun
- Ha, Kyungsoo
- Kim, Hyung-Goo
- Solomon, Benjamin D
- Gropman, Andrea L
- Lucente, Diane
- Sims, Katherine
- Ohsumi, Toshiro K
- Borowsky, Mark L
- Loranger, Stephanie
- Quade, Bradley
- Lage, Kasper
- Miles, Judith
- Wu, Bai-Lin
- Shen, Yiping
- Neale, Benjamin
- Shaffer, Lisa G
- Daly, Mark J
- Morton, Cynthia C
- Gusella, James F
Producer: 20120622
In:
Cell vol. 149
Availability: No items available.
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15.
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Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. [electronic resource] by
- Talkowski, Michael E
- Mullegama, Sureni V
- Rosenfeld, Jill A
- van Bon, Bregje W M
- Shen, Yiping
- Repnikova, Elena A
- Gastier-Foster, Julie
- Thrush, Devon Lamb
- Kathiresan, Sekar
- Ruderfer, Douglas M
- Chiang, Colby
- Hanscom, Carrie
- Ernst, Carl
- Lindgren, Amelia M
- Morton, Cynthia C
- An, Yu
- Astbury, Caroline
- Brueton, Louise A
- Lichtenbelt, Klaske D
- Ades, Lesley C
- Fichera, Marco
- Romano, Corrado
- Innis, Jeffrey W
- Williams, Charles A
- Bartholomew, Dennis
- Van Allen, Margot I
- Parikh, Aditi
- Zhang, Lilei
- Wu, Bai-Lin
- Pyatt, Robert E
- Schwartz, Stuart
- Shaffer, Lisa G
- de Vries, Bert B A
- Gusella, James F
- Elsea, Sarah H
Producer: 20111212
In:
American journal of human genetics vol. 89
Availability: No items available.
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16.
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Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. [electronic resource] by
- Aneichyk, Tatsiana
- Hendriks, William T
- Yadav, Rachita
- Shin, David
- Gao, Dadi
- Vaine, Christine A
- Collins, Ryan L
- Domingo, Aloysius
- Currall, Benjamin
- Stortchevoi, Alexei
- Multhaupt-Buell, Trisha
- Penney, Ellen B
- Cruz, Lilian
- Dhakal, Jyotsna
- Brand, Harrison
- Hanscom, Carrie
- Antolik, Caroline
- Dy, Marisela
- Ragavendran, Ashok
- Underwood, Jason
- Cantsilieris, Stuart
- Munson, Katherine M
- Eichler, Evan E
- Acuña, Patrick
- Go, Criscely
- Jamora, R Dominic G
- Rosales, Raymond L
- Church, Deanna M
- Williams, Stephen R
- Garcia, Sarah
- Klein, Christine
- Müller, Ulrich
- Wilhelmsen, Kirk C
- Timmers, H T Marc
- Sapir, Yechiam
- Wainger, Brian J
- Henderson, Daniel
- Ito, Naoto
- Weisenfeld, Neil
- Jaffe, David
- Sharma, Nutan
- Breakefield, Xandra O
- Ozelius, Laurie J
- Bragg, D Cristopher
- Talkowski, Michael E
Producer: 20190121
In:
Cell vol. 172
Availability: No items available.
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17.
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. [electronic resource] by
- Redin, Claire
- Brand, Harrison
- Collins, Ryan L
- Kammin, Tammy
- Mitchell, Elyse
- Hodge, Jennelle C
- Hanscom, Carrie
- Pillalamarri, Vamsee
- Seabra, Catarina M
- Abbott, Mary-Alice
- Abdul-Rahman, Omar A
- Aberg, Erika
- Adley, Rhett
- Alcaraz-Estrada, Sofia L
- Alkuraya, Fowzan S
- An, Yu
- Anderson, Mary-Anne
- Antolik, Caroline
- Anyane-Yeboa, Kwame
- Atkin, Joan F
- Bartell, Tina
- Bernstein, Jonathan A
- Beyer, Elizabeth
- Blumenthal, Ian
- Bongers, Ernie M H F
- Brilstra, Eva H
- Brown, Chester W
- Brüggenwirth, Hennie T
- Callewaert, Bert
- Chiang, Colby
- Corning, Ken
- Cox, Helen
- Cuppen, Edwin
- Currall, Benjamin B
- Cushing, Tom
- David, Dezso
- Deardorff, Matthew A
- Dheedene, Annelies
- D'Hooghe, Marc
- de Vries, Bert B A
- Earl, Dawn L
- Ferguson, Heather L
- Fisher, Heather
- FitzPatrick, David R
- Gerrol, Pamela
- Giachino, Daniela
- Glessner, Joseph T
- Gliem, Troy
- Grady, Margo
- Graham, Brett H
- Griffis, Cristin
- Gripp, Karen W
- Gropman, Andrea L
- Hanson-Kahn, Andrea
- Harris, David J
- Hayden, Mark A
- Hill, Rosamund
- Hochstenbach, Ron
- Hoffman, Jodi D
- Hopkin, Robert J
- Hubshman, Monika W
- Innes, A Micheil
- Irons, Mira
- Irving, Melita
- Jacobsen, Jessie C
- Janssens, Sandra
- Jewett, Tamison
- Johnson, John P
- Jongmans, Marjolijn C
- Kahler, Stephen G
- Koolen, David A
- Korzelius, Jerome
- Kroisel, Peter M
- Lacassie, Yves
- Lawless, William
- Lemyre, Emmanuelle
- Leppig, Kathleen
- Levin, Alex V
- Li, Haibo
- Li, Hong
- Liao, Eric C
- Lim, Cynthia
- Lose, Edward J
- Lucente, Diane
- Macera, Michael J
- Manavalan, Poornima
- Mandrile, Giorgia
- Marcelis, Carlo L
- Margolin, Lauren
- Mason, Tamara
- Masser-Frye, Diane
- McClellan, Michael W
- Mendoza, Cinthya J Zepeda
- Menten, Björn
- Middelkamp, Sjors
- Mikami, Liya R
- Moe, Emily
- Mohammed, Shehla
- Mononen, Tarja
- Mortenson, Megan E
- Moya, Graciela
- Nieuwint, Aggie W
- Ordulu, Zehra
- Parkash, Sandhya
- Pauker, Susan P
- Pereira, Shahrin
- Perrin, Danielle
- Phelan, Katy
- Aguilar, Raul E Piña
- Poddighe, Pino J
- Pregno, Giulia
- Raskin, Salmo
- Reis, Linda
- Rhead, William
- Rita, Debra
- Renkens, Ivo
- Roelens, Filip
- Ruliera, Jayla
- Rump, Patrick
- Schilit, Samantha L P
- Shaheen, Ranad
- Sparkes, Rebecca
- Spiegel, Erica
- Stevens, Blair
- Stone, Matthew R
- Tagoe, Julia
- Thakuria, Joseph V
- van Bon, Bregje W
- van de Kamp, Jiddeke
- van Der Burgt, Ineke
- van Essen, Ton
- van Ravenswaaij-Arts, Conny M
- van Roosmalen, Markus J
- Vergult, Sarah
- Volker-Touw, Catharina M L
- Warburton, Dorothy P
- Waterman, Matthew J
- Wiley, Susan
- Wilson, Anna
- Yerena-de Vega, Maria de la Concepcion A
- Zori, Roberto T
- Levy, Brynn
- Brunner, Han G
- de Leeuw, Nicole
- Kloosterman, Wigard P
- Thorland, Erik C
- Morton, Cynthia C
- Gusella, James F
- Talkowski, Michael E
Producer: 20170907
In:
Nature genetics vol. 49
Availability: No items available.
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