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Author/Creator Gahl, William A.

3. A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. Issue 5 (9th March 2020)

Authors:
Burke, Elizabeth A.; Reichard, Kyle E.; Wolfe, Lynne A.; Brooks, Brian P.; DiGiovanna, John J.; Hadley, Donald W.; Lehky, Tanya J.; Gropman, Andrea L.; Tifft, Cynthia J.; Gahl, William A.; Toro, Camilo; Adams, David
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 5(2020)
Page Start:
1278
Record Type:
Journal Article
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4. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency. Issue 1 (8th November 2017)

Authors:
Malicdan, May Christine V.; Vilboux, Thierry; Ben‐Zeev, Bruria; Guo, Jennifer; Eliyahu, Aviva; Pode‐Shakked, Ben; Dori, Amir; Kakani, Sravan; Chandrasekharappa, Settara C.; Ferreira, Carlos R.; Shelestovich, Natalia; Marek‐Yagel, Dina; Pri‐Chen, Hadass; Blatt, Ilan; Niederhuber, John E.; He, Lang...
Journal:
Human mutation
Issue:
Volume 39:Issue 1(2018)
Page Start:
69
Record Type:
Journal Article
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5. A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching. (2nd January 2018)

Authors:
Wang, Chen; Brancusi, Flavia; Valivullah, Zaheer M.; Anderson, Michael G.; Cunningham, Denise; Hedberg-Buenz, Adam; Power, Bradley; Simeonov, Dimitre; Gahl, William A.; Zein, Wadih M.; Adams, David R.; Brooks, Brian
Journal:
Ophthalmic genetics
Issue:
Volume 39:Number 1(2018)
Page Start:
41
Record Type:
Journal Article
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6. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. Issue 7 (4th June 2021)

Authors:
Debs, Sarah; Ferreira, Carlos R.; Groden, Catherine; Kim, H. Jeffrey; King, Kelly A.; King, Monique C.; Lehky, Tanya; Cowen, Edward W.; Brown, Laura H.; Merideth, Melissa; Owen, Carter M.; Macnamara, Ellen; Toro, Camilo; Gahl, William A.; Soldatos, Ariane
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 7(2021)
Page Start:
2102
Record Type:
Journal Article
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7. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016)

Authors:
Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
653
Record Type:
Journal Article
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8. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018)

Authors:
Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U...
Journal:
Neurology
Issue:
Volume 4:Number 4(2018)
Page Start:
Record Type:
Journal Article
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9. Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients. Issue 8 (1st June 2017)

Authors:
Lindsey, Spencer; Brewer, Carmen; Stakhovskaya, Olga; Kim, Hung Jeffrey; Zalewski, Chris; Bryant, Joy; King, Kelly A.; Naggert, Jürgen K.; Gahl, William A.; Marshall, Jan D.; Gunay‐Aygun, Meral
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 8(2017)
Page Start:
2210
Record Type:
Journal Article
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10. Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Issue 1 (20th December 2016)

Authors:
Kambouris, Marios; Thevenon, Julien; Soldatos, Ariane; Cox, Allison; Stephen, Joshi; Ben‐Omran, Tawfeg; Al‐Sarraj, Yasser; Boulos, Hala; Bone, William; Mullikin, James C.; Masurel‐Paulet, Alice; St‐Onge, Judith; Dufford, Yannis; Chantegret, Corrine; Thauvin‐Robinet, Christel; Al‐Alami, Jamil; Fai...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 4:Issue 1(2017)
Page Start:
26
Record Type:
Journal Article
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