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Can incorporating molecular testing improve the accuracy of newborn screening for congenital adrenal hyperplasia?
by
Sarafoglou, Kyriakie
,
Gaviglio, Amy
,
Wolf, Carrie
,
Lorentz, Cindy P
,
Lteif, Aida
,
Kyllo, Jennifer
,
Radloff, Gretchen
,
Detwiler, Zachary
,
Cuthbert, Carla D
,
Hodges, James S
,
Grosse, Scott D
,
Greene, Christopher N
,
Cordovado, Suzanne
Published in
The journal of clinical endocrinology and metabolism
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Subtelomere deletions and translocations are frequently familial
by
Adeyinka, Adewale
,
Adams, S. Annie
,
Lorentz, Cindy P.
,
Van Dyke, Daniel L.
,
Jalal, Syed M.
Published in
American journal of medical genetics. Part A
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Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb
by
Adeyinka, Adewale
,
Stockero, Kimberly J.
,
Flynn, Heather C.
,
Lorentz, Cindy P.
,
Ketterling, Rhett P.
,
Jalal, Syed M.
Published in
Genetics in medicine
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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients
by
Ensenauer, Regina E.
,
Adeyinka, Adewale
,
Flynn, Heather C.
,
Michels, Virginia V.
,
Lindor, Noralane M.
,
Dawson, D. Brian
,
Thorland, Erik C.
,
Lorentz, Cindy Pham
,
Goldstein, Jennifer L.
,
McDonald, Marie T.
,
Smith, Wendy E.
,
Simon-Fayard, Elba
,
Alexander, Alan A.
,
Kulharya, Anita S.
,
Ketterling, Rhett P.
,
Clark, Robin D.
,
Jalal, Syed M.
Published in
American journal of human genetics
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Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients
by
Jalal, Syed M.
,
Harwood, Aaron R.
,
Sekhon, Gurbax S.
,
Lorentz, Cindy Pham
,
Ketterling, Rhett P.
,
Babovic-Vuksanovic, Dusica
,
Meyer, Reid G.
,
Ensenauer, Regina
,
Anderson, Marvin H.
,
Michels, Virginia V.
Published in
Genetics in medicine
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Primer on Medical Genomics Part I: History of Genetics and Sequencing of the Human Genome
by
Lorentz, Cindy Pham
,
Wieben, Eric D.
,
Tefferi, Ayalew
,
Whiteman, David A.H.
,
Dewald, Gordon W.
Published in
Mayo Clinic proceedings
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