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The genetics of cerebellar malformations mā Kimberly A. Aldinger, Dan Doherty

I whakaputaina 2016

Whiwhi kuputuhi katoa
Revisão

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2

Human Cerebellar Development and Transcriptomics: Implications for Neurodevelopmental Disorders mā Parthiv Haldipur, Kathleen J. Millen, Kimberly A. Aldinger

I whakaputaina 2022

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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3

Patterns of Risk for Multiple Co‐Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder mā Kimberly A. Aldinger, Christianne J. Lane, Jeremy Veenstra‐VanderWeele, Pat Levitt

I whakaputaina 2015

Whiwhi kuputuhi katoa
Artigo

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4

Genetic Variation and Population Substructure in Outbred CD-1 Mice: Implications for Genome-Wide Association Studies mā Kimberly A. Aldinger, Greta Sokoloff, David M. Rosenberg, Abraham A. Palmer, Kathleen J. Millen

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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5

Lissencephaly: Expanded imaging and clinical classification mā Nataliya Di Donato, Sara Chiari, Ghayda Mirzaa, Kimberly A. Aldinger, Elena Parrini, Carissa Olds, A. James Barkovich, Renzo Guerrini, William B. Dobyns

I whakaputaina 2017

Whiwhi kuputuhi katoa
Artigo

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6

Population genetic study of the brain-derived neurotrophic factor (BDNF) gene mā Tracey L. Petryshen, Pardis C. Sabeti, Kimberly A. Aldinger, Ben Fry, Jinbo B. Fan, S. F. Schaffner, Skye G. Waggoner, A R Tahl, Pamela Sklar

I whakaputaina 2009

Whiwhi kuputuhi katoa
Artigo

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7

Lmx1a regulates fates and location of cells originating from the cerebellar rhombic lip and telencephalic cortical hem mā Victor V. Chizhikov, Anne Lindgren, Yuriko Mishima, Richard W. Roberts, Kimberly A. Aldinger, George R. Miesegaes, D. Spencer Currle, Edwin S. Monuki, Kathleen J. Millen

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive<i>WNT1</i>mutations mā Kimberly A. Aldinger, Nancy J. Mendelsohn, Brian HY Chung, Wenjuan Zhang, Daniel H. Cohn, Bridget A. Fernandez, Fowzan S. Alkuraya, William B. Dobyns, Cynthia J. Curry

I whakaputaina 2015

Whiwhi kuputuhi katoa
Artigo

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9

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation mā Kimberly A. Aldinger, Ordan J. Lehmann, Louanne Hudgins, Victor V. Chizhikov, Alexander G. Bassuk, Lesley C. Adès, Ian D. Krantz, William B. Dobyns, Kathleen J. Millen

I whakaputaina 2009

Whiwhi kuputuhi katoa
Artigo

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10

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms mā Parthiv Haldipur, Derek Dang, Kimberly A. Aldinger, Olivia K Janson, Fabien Guimiot, Homa Adle-Biasette, William B. Dobyns, Joseph R. Siebert, Rosa Russo, Kathleen J. Millen

I whakaputaina 2017

Whiwhi kuputuhi katoa
Artigo

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11

A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair mā Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett, Laura Baker, Jessica Tusi, Nina Powell‐Hamilton, Deborah L. Stabley, Katia Sol‐Church, Andrew E. Timms, William B. Dobyns

I whakaputaina 2016

Whiwhi kuputuhi katoa
Artigo

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12

Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion mā Kimberly A. Aldinger, Jillene Kogan, Virginia Kimonis, Bridget A. Fernandez, Denise Horn, Eva Klopocki, Brian Hon‐Yin Chung, Annick Toutain, Rosanna Weksberg, Kathleen J. Millen, A. James Barkovich, William B. Dobyns

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

Pleiotropic Mechanisms Indicated for Sex Differences in Autism mā Ileena Mitra, Kathryn Tsang, Christine Ladd‐Acosta, Lisa Croen, Kimberly A. Aldinger, Robert L. Hendren, Michela Traglia, Alinoë Lavillaureix, Noah Zaitlen, Michael C. Oldham, Pat Levitt, Stanley F. Nelson, David G. Amaral, Irva Herz-Picciotto, M. Daniele Fallin, Lauren A. Weiss

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

Association and Mutation Analyses of 16p11.2 Autism Candidate Genes mā Ravinesh A. Kumar, Christian R. Marshall, Judith A. Badner, Timothy D. Babatz, Zohar Mukamel, Kimberly A. Aldinger, Jyotsna Sudi, Camille W. Brune, Gerald Goh, Samer Karamohamed, James S. Sutcliffe, Edwin H. Cook, Daniel H. Geschwind, William B. Dobyns, Stephen W. Scherer, Susan L. Christian

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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15

A human cell atlas of fetal chromatin accessibility mā Silvia Domcke, Andrew J. Hill, Riza M. Daza, Junyue Cao, Diana R. O’Day, Hannah A. Pliner, Kimberly A. Aldinger, Dmitry Pokholok, Fan Zhang, Jennifer H. Milbank, Michael Zager, Ian Glass, Frank J. Steemers, Dan Doherty, Cole Trapnell, Darren A. Cusanovich, Jay Shendure

I whakaputaina 2020

Whiwhi kuputuhi katoa
Artigo

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16

A human cell atlas of fetal gene expression mā Junyue Cao, Diana R. O’Day, Hannah A. Pliner, Paul D. Kingsley, Mei Deng, Riza M. Daza, Michael Zager, Kimberly A. Aldinger, Ronnie Blecher‐Gonen, Fan Zhang, Malte Spielmann, James Palis, Dan Doherty, Frank J. Steemers, Ian Glass, Cole Trapnell, Jay Shendure

I whakaputaina 2020

Whiwhi kuputuhi katoa
Artigo

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17

Medulloblastoma group 3 and 4 tumors comprise a clinically and biologically significant expression continuum reflecting human cerebellar development mā Daniel Williamson, Ed C. Schwalbe, Debbie Hicks, Kimberly A. Aldinger, Janet C. Lindsey, Stephen Crosier, Stacey Richardson, Jack Goddard, Rebecca M. Hill, Jemma Castle, Yura Grabovska, James Hacking, Barry Pizer, Stephen B. Wharton, Thomas S. Jacques, Abhijit Joshi, Simon Bailey, Steven C. Clifford

I whakaputaina 2022

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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18

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype mā Matthew T. Whitehead, Matthew J. Barkovich, Jai Sidpra, César Augusto Pinheiro Ferreira Alves, David M. Mirsky, Özgür Öztekin, Debarata Bhattacharya, Leandro Tavares Lucato, Sniya Sudhakar, Ajay Taranath, Savvas Andronikou, Sanjay P. Prabhu, Kimberly A. Aldinger, Parthiv Haldipur, Kathleen J. Millen, A. James Barkovich, Eugen Boltshauser, William B. Dobyns, Kshitij Mankad

I whakaputaina 2022

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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19

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy mā Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C. Dempsey, Gisele E. Ishak, Taila Hartley, Ian G. Phelps, Ryan E. Lamont, Diana R. O’Day, Donald Basel, Karen W. Gripp, Laura Baker, Mark J. Stephan, François Bernier, Kym M. Boycott, Jacek Majewski, Jillian S. Parboosingh, A. Micheil Innes, Dan Doherty

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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20

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly mā Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma L. Carvill, Candace T. Myers, Jean‐Baptiste Rivière, Maha S. Zaki, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns

I whakaputaina 2018

Whiwhi kuputuhi katoa
Artigo

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