Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
Soden, Sarah E, Saunders, Carol J, Willig, Laurel K, Farrow, Emily G, Smith, Laurie D, Petrikin, Josh E, LePichon, Jean-Baptiste, Miller, Neil A, Thiffault, Isabelle, Dinwiddie, Darrell L, Twist, Greyson, Noll, Aaron, Heese, Bryce A, Zellmer, Lee, Atherton, Andrea M, Abdelmoity, Ahmed T, Safina, Nicole, Nyp, Sarah S, Zuccarelli, Britton, Larson, Ingrid A, Modrcin, Ann, Herd, Suzanne, Creed, Mitchell, Ye, Zhaohui, Yuan, Xuan, Brodsky, Robert A, Kingsmore, Stephen F
Published in Science translational medicine (03.12.2014)
Published in Science translational medicine (03.12.2014)
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Journal Article
Diagnostic yield of genetic testing in 324 infants with hypotonia
Sharma, Sonal, Repnikova, Elena, Noel‐MacDonnell, Janelle R., LePichon, Jean‐Baptiste
Published in Clinical genetics (01.12.2021)
Published in Clinical genetics (01.12.2021)
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Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A2γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse
Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F., Gross, Richard W.
Published in Human mutation (01.03.2015)
Published in Human mutation (01.03.2015)
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A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes
LePichon, Jean‐Baptiste, Bittel, Douglas C., Graf, William D., Yu, Shihui
Published in American journal of medical genetics. Part A (01.05.2010)
Published in American journal of medical genetics. Part A (01.05.2010)
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The 2018 Pediatric Neurology Trainee Publication Award
Scher, Mark S., Breningstall, Galen, Gilbert, Donald, Jordan, Lori, Khakoo, Yasmin, LePichon, Jean-Baptiste
Published in Pediatric neurology (01.12.2019)
Published in Pediatric neurology (01.12.2019)
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The 2017 Pediatric Neurology Training Publication Award
Scher, Mark S., Breningstall, Galen, Gilbert, Donald, Jordan, Lori, Khakoo, Yasmin, LePichon, Jean-Baptiste
Published in Pediatric neurology (01.09.2018)
Published in Pediatric neurology (01.09.2018)
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Editorial: The 2016 Pediatric Neurology Trainee Publication Award
Scher, Mark S., Breningstall, Galen, Gilbert, Donald L., Jordan, Lori, Khakoo, Yasmin, LePichon, Jean-Baptiste
Published in Pediatric neurology (01.10.2017)
Published in Pediatric neurology (01.10.2017)
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Journal Article
15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features
Abdelmoity, Ahmed T, LePichon, Jean-Baptiste, Nyp, Sarah S, Soden, Sarah E, Daniel, Carol A, Yu, Shihui
Published in Journal of developmental and behavioral pediatrics (01.09.2012)
Published in Journal of developmental and behavioral pediatrics (01.09.2012)
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Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A2γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse
Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F., Gross, Richard W.
Published in Human mutation (01.06.2015)
Published in Human mutation (01.06.2015)
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Journal Article
A Hypothesis for Using Pathway Genetic Load Analysis for Understanding Complex Outcomes in Bilirubin Encephalopathy
Riordan, Sean M, Bittel, Douglas C, Le Pichon, Jean-Baptiste, Gazzin, Silvia, Tiribelli, Claudio, Watchko, Jon F, Wennberg, Richard P, Shapiro, Steven M
Published in Frontiers in neuroscience (18.08.2016)
Published in Frontiers in neuroscience (18.08.2016)
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Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A2[gamma] Recapitulate the Mitochondriopathy of the Homologous Null Mouse
Saunders, Carol J, Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D, Farrow, Emily G, Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F, Gross, Richard W
Published in Human mutation (01.06.2015)
Published in Human mutation (01.06.2015)
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Journal Article
Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A 2 γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse
Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F., Gross, Richard W.
Published in Human mutation (01.06.2015)
Published in Human mutation (01.06.2015)
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Journal Article
Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A 2 γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse
Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F., Gross, Richard W.
Published in Human mutation (01.03.2015)
Published in Human mutation (01.03.2015)
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Journal Article
Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A sub(2) gamma Recapitulate the Mitochondriopathy of the Homologous Null Mouse
Saunders, Carol J, Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D, Farrow, Emily G, Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F, Gross, Richard W
Published in Human mutation (01.03.2015)
Published in Human mutation (01.03.2015)
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Journal Article
Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A2[gamma] Recapitulate the Mitochondriopathy of the Homologous Null Mouse
Saunders, Carol J, Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D, Farrow, Emily G, Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F, Gross, Richard W
Published in Human mutation (01.03.2015)
Published in Human mutation (01.03.2015)
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Journal Article
A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes
LePichon, Jean-Baptiste, Bittel, Douglas C., Graf, William D., Yu, Shihui
Published in American Journal of Medical Genetics Part A (01.05.2010)
Published in American Journal of Medical Genetics Part A (01.05.2010)
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