Results
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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. [electronic resource] by
- Hiatt, Susan M
- Thompson, Michelle L
- Prokop, Jeremy W
- Lawlor, James M J
- Gray, David E
- Bebin, E Martina
- Rinne, Tuula
- Kempers, Marlies
- Pfundt, Rolph
- van Bon, Bregje W
- Mignot, Cyril
- Nava, Caroline
- Depienne, Christel
- Kalsner, Louisa
- Rauch, Anita
- Joset, Pascal
- Bachmann-Gagescu, Ruxandra
- Wentzensen, Ingrid M
- McWalter, Kirsty
- Cooper, Gregory M
Producer: 20200203
In:
American journal of human genetics vol. 104
Availability: No items available.
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4.
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Genomic sequencing identifies secondary findings in a cohort of parent study participants. [electronic resource] by
- Thompson, Michelle L
- Finnila, Candice R
- Bowling, Kevin M
- Brothers, Kyle B
- Neu, Matthew B
- Amaral, Michelle D
- Hiatt, Susan M
- East, Kelly M
- Gray, David E
- Lawlor, James M J
- Kelley, Whitley V
- Lose, Edward J
- Rich, Carla A
- Simmons, Shirley
- Levy, Shawn E
- Myers, Richard M
- Barsh, Gregory S
- Bebin, E Martina
- Cooper, Gregory M
Producer: 20190514
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
Availability: No items available.
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5.
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Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles. [electronic resource] by
- Cochran, J Nicholas
- McKinley, Emily C
- Cochran, Meagan
- Amaral, Michelle D
- Moyers, Bryan A
- Lasseigne, Brittany N
- Gray, David E
- Lawlor, James M J
- Prokop, Jeremy W
- Geier, Ethan G
- Holt, James M
- Thompson, Michelle L
- Newberry, J Scott
- Yokoyama, Jennifer S
- Worthey, Elizabeth A
- Geldmacher, David S
- Love, Marissa Natelson
- Cooper, Gregory M
- Myers, Richard M
- Roberson, Erik D
Producer: 20200821
In:
Cold Spring Harbor molecular case studies vol. 5
Availability: No items available.
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6.
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Genomic diagnosis for children with intellectual disability and/or developmental delay. [electronic resource] by
- Bowling, Kevin M
- Thompson, Michelle L
- Amaral, Michelle D
- Finnila, Candice R
- Hiatt, Susan M
- Engel, Krysta L
- Cochran, J Nicholas
- Brothers, Kyle B
- East, Kelly M
- Gray, David E
- Kelley, Whitley V
- Lamb, Neil E
- Lose, Edward J
- Rich, Carla A
- Simmons, Shirley
- Whittle, Jana S
- Weaver, Benjamin T
- Nesmith, Amy S
- Myers, Richard M
- Barsh, Gregory S
- Bebin, E Martina
- Cooper, Gregory M
Producer: 20170901
In:
Genome medicine vol. 9
Availability: No items available.
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7.
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Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. [electronic resource] by
- Sanghvi, Rashesh V
- Buhay, Christian J
- Powell, Bradford C
- Tsai, Ellen A
- Dorschner, Michael O
- Hong, Celine S
- Lebo, Matthew S
- Sasson, Ariella
- Hanna, David S
- McGee, Sean
- Bowling, Kevin M
- Cooper, Gregory M
- Gray, David E
- Lonigro, Robert J
- Dunford, Andrew
- Brennan, Christine A
- Cibulskis, Carrie
- Walker, Kimberly
- Carneiro, Mauricio O
- Sailsbery, Joshua
- Hindorff, Lucia A
- Robinson, Dan R
- Santani, Avni
- Sarmady, Mahdi
- Rehm, Heidi L
- Biesecker, Leslie G
- Nickerson, Deborah A
- Hutter, Carolyn M
- Garraway, Levi
- Muzny, Donna M
- Wagle, Nikhil
Producer: 20181228
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
Availability: No items available.
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