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Search life-sciences literature (45,100,050 articles, preprints and more)

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1-14 of 14 results

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An examination of psychosocial and professional effects of the COVID-19 pandemic on genetic counselors.
Gostic N, Groepper D, Trinkle-Tucker M, Johnson M, Niendorf KB
J Genet Couns, 33(2):269-280, 25 Apr 2023
Cited by: 0 articles | PMID: 37096772
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Newborn screening for mucopolysaccharidosis type II: Lessons learned.
Burton BK, Shively V, Quadri A, Warn L, Burton J, Grange DK, Christensen K, Groepper D, Ashbaugh L, Ehrhardt J, Basheeruddin K
Mol Genet Metab, 140(1-2):107557, 06 Mar 2023
Cited by: 3 articles | PMID: 36907694
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Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Poll SR, Martin R, Wohler E, Partan ES, Walek E, Salman S, Groepper D, Kratz L, Cernach M, Jesus-Garcia R, Haldeman-Englert C, Choi YJ, Morris CD, Cohen B, Hoover-Fong J, Valle D, Semenza GL, Sobreira NLM
PLoS Genet, 18(12):e1010504, 08 Dec 2022
Cited by: 3 articles | PMID: 36480544 | PMCID: PMC9767349
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.
Fry D, Groepper D, MacCarrick G, Demo EM, Thomas MJ, Wilkes MJ, Lyons MJ, Tucker ME, Steding C, Fleischer J, Fleischer J
Am J Med Genet A, 188(7):2237-2241, 15 Apr 2022
Cited by: 0 articles | PMID: 35426477
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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, [...] Aggarwal V
Epilepsia, 62(7):e103-e109, 26 May 2021
Cited by: 12 articles | PMID: 34041744 | PMCID: PMC9189716
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Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, [...] Lessel D
Genome Med, 13(1):90, 21 May 2021
Cited by: 15 articles | PMID: 34020708 | PMCID: PMC8140440
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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, [...] Kleefstra T
Hum Mutat, 42(4):445-459, 01 Mar 2021
Cited by: 16 articles | PMID: 33565190 | PMCID: PMC8248425
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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, L. Busk Ø, Chenbhanich J, Denecke J, [...] Lessel D
medRxiv, 25 Sep 2020
Cited by: 0 articles | PPR: PPR219134
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Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
Burton BK, Hoganson GE, Fleischer J, Grange DK, Braddock SR, Hickey R, Hitchins L, Groepper D, Christensen KM, Kirby A, Moody C, Shryock H, Ashbaugh L, Shao R, Basheeruddin K
J Pediatr, 214:165-167.e1, 30 Aug 2019
Cited by: 14 articles | PMID: 31477379
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Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Burton BK, Charrow J, Hoganson GE, Fleischer J, Grange DK, Braddock SR, Hitchins L, Hickey R, Christensen KM, Groepper D, Shryock H, Smith P, Shao R, Basheeruddin K
Int J Neonatal Screen, 6(1):4, 21 Jan 2020
Cited by: 16 articles | PMID: 33073003 | PMCID: PMC7422983
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De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, [...] Chung WK
Am J Med Genet A, 182(5):962-973, 07 Feb 2020
Cited by: 5 articles | PMID: 32031333
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Ethical and Professional Challenges Encountered by Laboratory Genetic Counselors.
Groepper D, McCarthy Veach P, LeRoy BS, Bower M
J Genet Couns, 24(4):580-596, 16 Nov 2014
Cited by: 6 articles | PMID: 25398381
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Pharmacokinetic modeling of an induction regimen for in vivo combined testing of novel drugs against pediatric acute lymphoblastic leukemia xenografts.
Szymanska B, Wilczynska-Kalak U, Kang MH, Liem NL, Carol H, Boehm I, Groepper D, Reynolds CP, Stewart CF, Lock RB
PLoS One, 7(3):e33894, 29 Mar 2012
Cited by: 41 articles | PMID: 22479469 | PMCID: PMC3315513
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Stability of cyclophosphamide in extemporaneous oral suspensions.
Kennedy R, Groepper D, Tagen M, Christensen R, Navid F, Gajjar A, Stewart CF
Ann Pharmacother, 44(2):295-301, 26 Jan 2010
Cited by: 8 articles | PMID: 20103616 | PMCID: PMC2835970
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1-14 of 14 results

Search life-sciences literature (45,100,050 articles, preprints and more)

Search results

An examination of psychosocial and professional effects of the COVID-19 pandemic on genetic counselors.

Newborn screening for mucopolysaccharidosis type II: Lessons learned.

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.

Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Ethical and Professional Challenges Encountered by Laboratory Genetic Counselors.

Pharmacokinetic modeling of an induction regimen for in vivo combined testing of novel drugs against pediatric acute lymphoblastic leukemia xenografts.

Stability of cyclophosphamide in extemporaneous oral suspensions.

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