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Genetics and Pathogenesis of Parkinson's Syndrome
Genetics and Pathogenesis of Parkinson's Syndrome
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Genetics and Pathogenesis of Parkinson's Syndrome

Ye, Hui ; Robak, Laurie A ; Yu, Meigen ; Cykowski, Matthew ; Shulman, Joshua M

Annual review of pathology, 2023-01, Vol.18 (1), p.95-121 [Periódico revisado por pares]

United States: Annual Reviews

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2
The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome
The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome
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The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome

Chen, Chun‐An ; Crutcher, Emeline ; Gill, Harinder ; Nelson, Tanya N. ; Robak, Laurie A. ; Jongmans, Marjolijn C. J. ; Pfundt, Rolph ; Prasad, Chitra ; Berard, Roberta A. ; Fannemel, Madeleine ; Frengen, Eirik ; Misceo, Doriana ; Ramsey, Keri ; Yang, Yaping ; Schaaf, Christian P. ; Wang, Xia

Human mutation, 2020-10, Vol.41 (10), p.1738-1744 [Periódico revisado por pares]

United States: Hindawi Limited

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3
P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome
P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome
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P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome

Kin Chau, Matthew Hoi ; Mizerik, Elizabeth ; Robak, Laurie ; Liu, Pengfei ; Vossaert, Liesbeth ; Owen, Nichole

Genetics in Medicine Open, 2023, Vol.1 (1), p.100486, Article 100486 [Periódico revisado por pares]

Elsevier Inc

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4
P871: Genetic insight, social impact: Transforming care through Sotos syndrome diagnosis
P871: Genetic insight, social impact: Transforming care through Sotos syndrome diagnosis
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P871: Genetic insight, social impact: Transforming care through Sotos syndrome diagnosis

Brooks, Dan ; Mizerik, Elizabeth ; Vossaert, Liesbeth ; Lalani, Seema ; Weisz-Hubshman, Monika ; Potocki, Lorraine ; Robak, Laurie

Genetics in Medicine Open, 2024, Vol.2, p.101785 [Periódico revisado por pares]

Elsevier Inc

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5
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
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De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Assia Batzir, Nurit ; Bhagwat, Pranjali K ; Eble, Tanya N ; Liu, Pengfei ; Eng, Christine M ; Elsea, Sarah H ; Robak, Laurie A ; Scaglia, Fernando ; Goldman, Alica M ; Dhar, Shweta U ; Wangler, Michael F

Cold Spring Harbor molecular case studies, 2019-06, Vol.5 (3), p.a003673 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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6
Genome Sequencing in the Parkinson Disease Clinic
Genome Sequencing in the Parkinson Disease Clinic
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Genome Sequencing in the Parkinson Disease Clinic

Hill, Emily J. ; Robak, Laurie A. ; Al-Ouran, Rami ; Deger, Jennifer ; Fong, Jamie C. ; Vandeventer, Paul Jerrod ; Schulman, Emily ; Rao, Sindhu ; Saade, Hiba ; Savitt, Joseph M. ; von Coelln, Rainer ; Desai, Neeja ; Doddapaneni, Harshavardhan ; Salvi, Sejal ; Dugan-Perez, Shannon ; Muzny, Donna M. ; McGuire, Amy L. ; Liu, Zhandong ; Gibbs, Richard A. ; Shaw, Chad ; Jankovic, Joseph ; Shulman, Lisa M. ; Shulman, Joshua M.

Neurology. Genetics, 2022-08, Vol.8 (4), p.e200002-e200002 [Periódico revisado por pares]

Baltimore: Wolters Kluwer

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7
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
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Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

Robak, Laurie A ; Du, Renqian ; Yuan, Bo ; Gu, Shen ; Alfradique-Dunham, Isabel ; Kondapalli, Vismaya ; Hinojosa, Evelyn ; Stillwell, Amanda ; Young, Emily ; Zhang, Chaofan ; Song, Xiaofei ; Du, Haowei ; Gambin, Tomasz ; Jhangiani, Shalini N ; Coban Akdemir, Zeynep ; Muzny, Donna M ; Tejomurtula, Anusha ; Ross, Owen A ; Shaw, Chad ; Jankovic, Joseph ; Bi, Weimin ; Posey, Jennifer E ; Lupski, James R ; Shulman, Joshua M

Neurology. Genetics, 2020-10, Vol.6 (5), p.e498-e498 [Periódico revisado por pares]

United States: Wolters Kluwer

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8
ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
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ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

Thomas, Ajay X. ; Link, Nichole ; Robak, Laurie A. ; Demmler‐Harrison, Gail ; Pao, Emily C. ; Squire, Audrey E. ; Michels, Savannah ; Cohen, Julie S. ; Comi, Anne ; Prontera, Paolo ; Verrotti di Pianella, Alberto ; Di Cara, Giuseppe ; Garavelli, Livia ; Caraffi, Stefano Giuseppe ; Fusco, Carlo ; Zuntini, Roberta ; Parks, Kendall C. ; Sherr, Elliott H. ; Hashem, Mais O. ; Maddirevula, Sateesh ; Alkuraya, Fowzan S. ; Contractar, Isphana A. F. ; Neil, Jennifer E. ; Walsh, Christopher A. ; Bellen, Hugo J. ; Chao, Hsiao‐Tuan ; Clark, Robin D. ; Mirzaa, Ghayda M.

Annals of clinical and translational neurology, 2022-08, Vol.9 (8), p.1276-1288 [Periódico revisado por pares]

Bognor Regis: John Wiley & Sons, Inc

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9
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets
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Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets

Kia, Demis A ; Zhang, David ; Guelfi, Sebastian ; Manzoni, Claudia ; Hubbard, Leon ; Reynolds, Regina H ; Botía, Juan ; Ryten, Mina ; Ferrari, Raffaele ; Lewis, Patrick A ; Williams, Nigel ; Trabzuni, Daniah ; Hardy, John ; Wood, Nicholas W

Archives of neurology (Chicago), 2021-04, Vol.78 (4), p.464-472 [Periódico revisado por pares]

United States: American Medical Association

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10
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome
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Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome

Storm, Catherine S ; Kia, Demis A ; Almramhi, Mona M ; Bandres-Ciga, Sara ; Finan, Chris ; Hingorani, Aroon D ; Wood, Nicholas W

Nature communications, 2021-12, Vol.12 (1), p.7342-7342, Article 7342 [Periódico revisado por pares]

England: Nature Publishing Group

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