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1

Clinical application of whole-exome sequencing across clinical indications

Retterer, Kyle, Juusola, Jane, Cho, Megan T., Vitazka, Patrik, Millan, Francisca, Gibellini, Federica, Vertino-Bell, Annette, Smaoui, Nizar, Neidich, Julie, Monaghan, Kristin G., McKnight, Dianalee, B

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 825 KB

english, 2015

2

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

Khayat, Wujood, Hackett, Anna, Shaw, Marie, Ilie, Alina, Dudding-Byth, Tracy, Kalscheuer, Vera M, Christie, Louise, Corbett, Mark A, Juusola, Jane, Friend, Kathryn L, Kirmse, Brian M, Gecz, Jozef, Fie

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.55 MB

english, 2018

3

Recovery and Stability of RNA in Vaginal Swabs and Blood, Semen, and Saliva Stains

Mindy Setzer, Jane Juusola, Jack Ballantyne

Journal:

Journal of Forensic Sciences

Year:

2008

Language:

english

File:

PDF, 503 KB

english, 2008

4

Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases

Bai, Renkui, Balog, Amanda, Higgs, Jaimie, Retterer, Kyle, Arjona, Dolores, Juusola, Jane, Vitazka, Patrik, Suchy, Sharon, Enns, Gregory M., Haas, Richard, Goldstein, Amy, Tarnopolsky, Mark, Parikh, S

Journal:

Year:

2015

Language:

english

File:

PDF, 52 KB

english, 2015

5

Congenital methemoglobinemia type II in a 5-year-old boy

Mannino, Elizabeth A., Pluim, Thomas, Wessler, Jacob, Cho, Megan T., Juusola, Jane, Schrier Vergano, Samantha A.

Journal:

Clinical Case Reports

Year:

2018

Language:

english

File:

PDF, 747 KB

english, 2018

6

Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia

Gu, Shen, Chen, Chun‐An, Rosenfeld, Jill A., Cope, Heidi, Launay, Nathalie, Flanigan, Kevin, Waldrop, Megan, Schrader, Rachel, Juusola, Jane, Goker‐Alpan, Ozlem, Milunsky, Aubrey, Schlüter, Agatha, Tr

Journal:

Year:

2019

Language:

english

File:

PDF, 378 KB

english, 2019

7

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.24 MB

english, 2015

8

Mutations in COQ4 , an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

Chung, Wendy K, Martin, Kimberly, Jalas, Chaim, Braddock, Stephen R, Juusola, Jane, Monaghan, Kristin G, Warner, Barbara, Franks, Samuel, Yudkoff, Marc, Lulis, Lauren, Rhodes, Roy H, Prasad, Vinay, To

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

9

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

Craddock, Kirsten E, Okur, Volkan, Wilson, Ashley, Gerkes, Erica H., Ramsey, Keri, Heeley, Jennifer M, Juusola, Jane, Vitobello, Antonio, Bonnet Dupeyron, Marie-Noelle, Faivre, Laurence, Chung, Wendy

Journal:

Molecular Case Studies

Year:

2019

Language:

english

File:

PDF, 441 KB

english, 2019

10

Clinical utility of exome sequencing in infantile heart failure

Ritter, Alyssa, Bedoukian, Emma, Berger, Justin H., Copenheaver, Deborah, Gray, Christopher, Krantz, Ian, Izumi, Kosuke, Juusola, Jane, Leonard, Jacqueline, Lin, Kimberly, Medne, Livija, Santani, Avni

Journal:

Genetics in Medicine

Year:

2019

File:

PDF, 408 KB

2019

11

Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency

Sklarz, Tammarah, Hurwitz, Stephanie N, Stanley, Natasha L, Juusola, Jane, Bagg, Adam, Babushok, Daria V

Journal:

Molecular Case Studies

Year:

2020

File:

PDF, 2.52 MB

2020

12

ChemInform Abstract: Influence of Polyamine Architecture on the Transport and Topoisomerase II Inhibitory Properties of Polyamine DNA-Intercalator Conjugates.

Lu Wang, Harry L. Price, Jane Juusola, Martin Kline, Otto Phanstiel IV

Journal:

Year:

2002

File:

PDF, 26 KB

2002

13

Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway

Marble, Michael, Guillen Sacoto, Maria J., Chikarmane, Rashmi, Gargiulo, Dominic, Juusola, Jane

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 320 KB

english, 2017

14

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Schneeberger, Pauline E, KortÃ¼m, Fanny, Korenke, Georg Christoph, Alawi, Malik, Santer, RenÃ©, Woidy, Mathias, Buhas, Daniela, Fox, Stephanie, Juusola, Jane, Alfadhel, Majid, Webb, Bryn D, Coci, Eman

Journal:

Year:

2020

File:

PDF, 1.08 MB

2020

15

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim,

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 788 KB

english, 2016

16

The importance of managing the patient and not the gene: expanded phenotype of GLE1 -associated arthrogryposis

Tan, Queenie K.-G., McConkie-Rosell, Allyn, Juusola, Jane, Gustafson, Kathryn E, Pizoli, Carolyn E, Buckley, Anne F, Jiang, Yong-Hui

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 4.58 MB

english, 2017

17

Multiplex mRNA profiling for the identification of body fluids

Jane Juusola, Jack Ballantyne

Journal:

Forensic Science International

Year:

2005

Language:

english

File:

PDF, 793 KB

english, 2005

18

De novo PHIP predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

Webster, Emily, Cho, Megan T, Alexander, Nora, Desai, Sonal, Naidu, Sakkubai, Bekheirnia, Mir Reza, Lewis, Andrea, Retterer, Kyle, Juusola, Jane, Chung, Wendy K

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 315 KB

english, 2016

19

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome

Dines, Jennifer N., Liu, Yajuan J., Neufeld‐Kaiser, Whitney, Sawyer, Taylor, Ishak, Gisele E., Tully, Hannah M., Racobaldo, Melissa, Sanchez‐Valle, Amarilis, Disteche, Christine M., Juusola, Jane, Tor

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.92 MB

english, 2019

20

The Effect of Polyamine Homologation on the Transport and Cytotoxicity Properties of Polyamine−(DNA-Intercalator) Conjugates

Phanstiel,, Price, Harry L., Wang, Lu, Juusola, Jane, Kline, Martin, Shah, Sapna Majmundar

Journal:

Journal of Organic Chemistry

Year:

2000

Language:

english

File:

PDF, 221 KB

english, 2000

21

The Effect of Polyamine Homologation on the Transport and Cytotoxicity Properties of Polyamine−(DNA-Intercalator) Conjugates.

Phanstiel,, Price, Harry L., Wang, Lu, Juusola, Jane, Kline, Martin, Shah, Sapna Majmundar

Journal:

Journal of Organic Chemistry

Year:

2000

Language:

english

File:

PDF, 9 KB

english, 2000

22

Mutations in SLC1A4 , encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Damseh, Nadirah, Simonin, Alexandre, Jalas, Chaim, Picoraro, Joseph A, Shaag, Avraham, Cho, Megan T, Yaacov, Barak, Neidich, Julie, Al-Ashhab, Motee, Juusola, Jane, Bale, Sherri, Telegrafi, Aida, Rett

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 2.57 MB

english, 2015

23

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T.

Journal:

Year:

2016

Language:

english

File:

PDF, 718 KB

english, 2016

24

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R.F., Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenk

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

25

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

Sega, Annalisa G, Mis, Emily K, Lindstrom, Kristin, Mercimek-Andrews, Saadet, Ji, Weizhen, Cho, Megan T, Juusola, Jane, Konstantino, Monica, Jeffries, Lauren, Khokha, Mustafa K, Lakhani, Saquib Ali

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 2.56 MB

english, 2018

26

mRNA Profiling for Body Fluid Identification by Multiplex Quantitative RT-PCR

Jane Juusola, Jack Ballantyne

Journal:

Journal of Forensic Sciences

Year:

2007

Language:

english

File:

PDF, 438 KB

english, 2007

27

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Fregeau, Brieana, Kim, Bum Jun, Hernández-García, Andrés, Jordan, Valerie K., Cho, Megan T., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rosenfeld, Jill A., Bhoj, Elizabeth, Zackai, Elaine

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 818 KB

english, 2016

28

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome

Reynolds, Kara K., Juusola, Jane, Rice, Gregory M., Giampietro, Philip F.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 447 KB

english, 2017

29

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK

Cheon, Solmi, Kaur, Kiran, Nijem, Nadine, Tuncay, Islam Oguz, Kumar, Pooja, Dean, Milan, Juusola, Jane, Guillen-Sacoto, Maria J., Bedoukian, Emma, Ierardi-Curto, Lynne, Kaplan, Paige, Schaefer, G. Bra

Journal:

Proceedings of the National Academy of Sciences

Year:

2019

Language:

english

File:

PDF, 1014 KB

english, 2019

30

Influence of Polyamine Architecture on the Transport and Topoisomerase II Inhibitory Properties of Polyamine DNA−Intercalator Conjugates

Wang, Lu, Price, Harry L., Juusola, Jane, Kline, Martin, Phanstiel,

Journal:

Journal of Medicinal Chemistry

Year:

2001

Language:

english

File:

PDF, 178 KB

english, 2001

31

Holoprosencephaly: A clinical genomics perspective

Solomon, Benjamin D., Retterer, Kyle, Juusola, Jane

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2018

Language:

english

File:

PDF, 577 KB

english, 2018

32

Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy

Kanani, Farah, Titheradge, Hannah, Cooper, Nicola, Elmslie, Frances, Lees, Melissa M., Juusola, Jane, Pisani, Laura, McKenna, Carolyn, Mignot, Cyril, Valence, Stephanie, Keren, Boris, Lachlan, Katheri

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.31 MB

2020

33

Messenger RNA profiling: a prototype method to supplant conventional methods for body fluid identification

Jane Juusola, Jack Ballantyne

Journal:

Forensic Science International

Year:

2003

Language:

english

File:

PDF, 594 KB

english, 2003

34

An mRNA and DNA co-isolation method for forensic casework samples

Michelle Alvarez, Jane Juusola, Jack Ballantyne

Journal:

Analytical Biochemistry

Year:

2004

Language:

english

File:

PDF, 1.35 MB

english, 2004

35

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum

Calloni, Sonia F., Cohen, Julie S., Meoded, Avner, Juusola, Jane, Triulzi, Fabio M., Huisman, Thierry A.G.M., Poretti, Andrea, Fatemi, Ali

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

36

Lessons from a pair of siblings with BPAN

Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 813 KB

english, 2015

37

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haerin

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 1.27 MB

english, 2016

38

Clinical utility of exome sequencing in infantile heart failure

Ritter, Alyssa, Bedoukian, Emma, Berger, Justin H., Copenheaver, Deborah, Gray, Christopher, Krantz, Ian, Izumi, Kosuke, Juusola, Jane, Leonard, Jacqueline, Lin, Kimberly, Medne, Livija, Santani, Avni

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 408 KB

english, 2019

39

Lessons from a pair of siblings with BPAN

Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 107 KB

english, 2016

40

MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of lowâlevel mosaicism in an unaffected parent

Su, Julia X., Velsher, Lea S., Juusola, Jane, Nezarati, Marjan M.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 2.67 MB

2020

41

De novo variants in MPP5 cause global developmental delay and behavioral changes

Sterling, Noelle, Duncan, Anna R, Park, Raehee, Koolen, David A, Shi, Jiahai, Cho, Seo-Hee, Benke, Paul J, Grant, Patricia E, Genetti, Casie A, VanNoy, Grace E, Juusola, Jane, McWalter, Kirsty, Parboo

Journal:

Human Molecular Genetics

Year:

2020

File:

PDF, 1.56 MB

2020

42

An unusual case of nephrotic syndrome in a microcephalic infant: Questions

Baker, Elizabeth, Weaver, Donald, Massengill, Susan, Mittag, Dana, Juusola, Jane, Demmer, Laurie

Journal:

Pediatric Nephrology

Year:

2019

Language:

english

File:

PDF, 148 KB

english, 2019

43

An unusual case of nephrotic syndrome in a microcephalic infant: Questions

Baker, Elizabeth, Weaver, Donald, Massengill, Susan, Mittag, Dana, Juusola, Jane, Demmer, Laurie

Journal:

Pediatric Nephrology

Year:

2019

File:

PDF, 148 KB

2019

44

An unusual case of nephrotic syndrome in a microcephalic infant: Answers

Baker, Elizabeth, Weaver, Donald, Massengill, Susan, Mittag, Dana, Juusola, Jane, Demmer, Laurie

Journal:

Pediatric Nephrology

Year:

2019

Language:

english

File:

PDF, 151 KB

english, 2019

45

An unusual case of nephrotic syndrome in a microcephalic infant: Answers

Baker, Elizabeth, Weaver, Donald, Massengill, Susan, Mittag, Dana, Juusola, Jane, Demmer, Laurie

Journal:

Pediatric Nephrology

Year:

2019

File:

PDF, 151 KB

2019

46

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

Yates, Carin L, Monaghan, Kristin G, Copenheaver, Deborah, Retterer, Kyle, Scuffins, Julie, Kucera, Cathlin R, Friedman, Bethany, Richard, Gabriele, Juusola, Jane

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 172 KB

english, 2017

47

Autosomal dominant inheritance in a recently described ZMIZ1‐ related neurodevelopmental disorder: Case report of siblings and an affected parent

Latchman, Kumarie, Calder, Madison, Morel, Dayna, Rhodes, Lindsay, Juusola, Jane, Tekin, Mustafa

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 1.11 MB

2019

48

Performance Evaluation of Two Methods Using Commercially Available Reagents for PCR-Based Detection of FMR1 Mutation

Juusola, Jane S., Anderson, Paula, Sabato, Fernanda, Wilkinson, David S., Pandya, Arti, Ferreira-Gonzalez, Andrea

Journal:

The Journal of Molecular Diagnostics

Year:

2012

Language:

english

File:

PDF, 1.31 MB

english, 2012

49

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

Kloth, Katja, Bierhals, Tatjana, Johannsen, Jessika, Harms, Frederike L., Juusola, Jane, Johnson, Mark C., Grange, Dorothy K., Kutsche, Kerstin

Journal:

Year:

2019

File:

PDF, 1.48 MB

2019

50

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction

Shao, Qing, Lindstrom, Kristin, Shi, Ruoyang, Kelly, John, Schroeder, Audrey, Juusola, Jane, Levine, Kara L., Esseltine, Jessica L., Penuela, Silvia, Jackson, Michael F., Laird, Dale W.

Journal:

Journal of Biological Chemistry

Year:

2016

Language:

english

File:

PDF, 1.52 MB

english, 2016

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